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Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:[email protected]

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Page 1: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com
Page 2: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Paternity Test

The college of Forensic Medicine in Kunming Medical University

Bingying Xu, Tel:13769175605

Email:[email protected]

Page 3: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

This is precisely what's going on ?

Page 4: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

.

This is your son!!!This boy is not my son.

Page 5: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

The course content

• Three ClassicThree Classic casescases

• The overview of parentage The overview of parentage

testtest

• The principle of parentage The principle of parentage

testtest

Page 6: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

• The principle of paternity The principle of paternity

inclusion inclusion

• The principle of paternity The principle of paternity

exclusion exclusion

The course content

Page 7: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part Ⅰ

Three ClassicThree Classic CasesCases

Page 8: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part Ⅰ Three ClassicThree Classic CasesCases

1.Case 1— Saddam’s identification

2. Case 2—last Russian Czar ’s identification

3. Case 3—Genetic legacy of Genghis Khan

Page 9: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1 Saddam’s identification.

Verifying the identity of

Saddam Hussein

Page 10: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Saddam Hussein

( 28 April 1937 – 30 December 2006 )

The former

President of Iraqi

Page 11: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification.

Saddam Hussein was killed or captured by

the United States military .

The United States military must verified

the identity of Saddam Hussein.

Page 12: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification

Saddam was known to have many

‘stunt doubles’ to protect his life

from assassins.

Page 13: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification.

The ability to verify his identity through

genetic testing was essential to knowing that

the United States in fact ‘had their man.’

Page 14: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

?

Page 15: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1 Saddam’s identification

What methods they use ?

Forensic DNA testing using short tandem repeat

(STR) markers played an important role in the

identification effort.

Forensic DNA testing : autosomal STR profiles

Y chromosome STR profiles

Page 16: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification

In this case, DNA samples from Saddam’s two

sons provided the family reference samples.

Uday Qusay

Page 17: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification

Uday and Qusay were killed in a gunfight before.

DNA samples were collected from their remains

shortly after they were killed for use as reference

samples in verifying the identity of their Father.

Page 18: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification

Scientists extracted DNA from Saddam’s 、 Uday’s

and Qusay’s biological samples and then amplified

the DNA samples using the autosomal STR kit to

obtain a full 13 loci STR profile. Saddam’s STR

profiles possessed alleles in common with STR

profiles of Saddam’s two sons.

Page 19: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 1

Saddam’s identification

Additionally, the Y chromosome STR kit also

showed full allele sharing between Saddam and

his two sons indicating that the sample in question

was from their same paternal lineage. Saddam and

his two sons have common Y chromosome STR

loci.

Page 20: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com
Page 21: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2 last Russian Czar ’s identification

Identifying the remains of the last

Russian Czar

Page 22: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Last Russian Czar :

Nicholas II 

( 18 May 1868 – 17

July 1918 )

Page 23: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Hotchpotch in 1911

Page 24: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2

last Russian Czar ’s identification

Nicholas II, his wife, his son, his four daughters

, the family's medical doctor, the Emperor's

footman, the Empress' maidservant, and the

family's cook were executed in the same room

by the Bolsheviks on the night of 17 July 1918.

Page 25: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2

last Russian Czar ’s identification

Nicholas II and his family were removed from

power and murdered during the Bolshevik

Revolution of 1918. They were shot by a firing

squad , doused with sulfuric acid to render their

bodies unrecognizable, and disposed of in a

shallow pit under a road.

Page 26: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2

last Russian Czar ’s identification

Their remains were lost to history until July 1991 when nine

skeletons were uncovered from a shallow grave near

Ekaterinburg, Russia. A number of forensic tests were

attempted involving computer aided reconstructions and

odontological analysis, but as the facial areas of the skulls

were destroyed, classical facial identification techniques

were difficult at best and not conclusive.

Page 27: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2

last Russian Czar ’s identification • DNA analysis

Five autosomal STR markers (VWA, F13A1,FES,ACTBP2,

TH01,) were used to examine the nine skeletons.

Approximately one gram of bone from each of the skeletons

yielded about 50 pg of DNA, just enough for PCR

amplification of several STR markers.

Page 28: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2

last Russian Czar ’s identification

What have scientists discovered ?

The remains of the Romanov family members

consisting of the Tsar, the Tsarina, and three

children were distinguishable from those of three

servants and the family doctor by their STR

genotypes.

Page 29: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 2

last Russian Czar ’s identification

While the STR analysis served to establish

family relationships between the remains

through comparing matching alleles, a link still

had to be made with a known descendant of

the Romanov family to verify that the remains

were indeed those of the Russian royal family.

Page 30: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Mitochondrial DNA(mtDNA ) analysis was used to answer

this question.Mitochondrial DNA was extracted from

the femur of each skeleton and sequenced. Blood

samples were then obtained from maternally related

descendants of the Romanov family and sequenced

in the same manner.

Case 2 last Russian Czar ’s identification

Page 31: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Prince Philip, Duke of Edinburgh

Who can provide biological sample?

Page 32: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

He is the

husband of

present British

Queen Elizabeth

Page 33: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Prince Philip is a grand nephew of unbroken

maternal descent from Tsarina Alexandra. His

blood sample thus provided the comparison to

confirm the sibling status of the children and the

linkage of the mother to the Tsarina’s family.

Tsarina,children

Page 34: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

The sequences of all 740 tested nucleotides

from the mtDNA control region matched

between Prince Philip and the putative Tsarina

and the three children.

Tsarina, children

Page 35: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

The mtDNA sequence from the putative Tsar

was compared with two relatives of unbroken

maternal descent from Tsar Nicholas II’s

grandmother, Louise of Hesse-Cassel. The two

relatives had the same mtDNA sequence.

Tsar

Page 36: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Lineage of Romanov Family.

Pedigree

Page 37: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Case 3Genetic legacy of Genghis Khan

Page 38: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Genghis Khan was the founder and Great Khan

(emperor) of the Mongol Empire, which became the

largest contiguous empire in history after his demise.

Genghis Khan

( 1162—1227 )

Page 39: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

He came to power by uniting

many of the nomadic tribes of

northeast Asia. After founding

the Mongol Empire and he

started the Mongol invasions

that resulted in the conquest of

most of Eurasia.

Page 40: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

By the end of his life, the

Mongol Empire occupied a

substantial portion of Central

Asia and China.

Page 41: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Map of Genghis Khan's expedition

Page 42: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

In a study of more than 2100 males from Central Asia ,Chris

Tyler-Smith from the University of Oxford used variation on

the Y chromosome to provide insights into aspects of human

history and evolution.He found that approximately 8% of

those studied had a unique Y chromosome lineage.

How to find the clue?

Page 43: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

What have they analysed?

1.Y-STR (short tandem repeats,STR)profile

2.Y-SNPs(Single nucleotide

polymorphisms ,SNPs)

Page 44: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

What have they analysed?

1.Y-STR profile : 15 Y-STR loci

DYS389I (10), DYS389II (26), DYS390 (25),

DYS391 (10), DYS392 (11), DYS393 (13),

DYS388 (14), DYS425 (12), DYS426 (11),

DYS434 (11), DYS435 (11), DYS436 (12),

DYS437 (8), DYS438 (10), DYS439 (10)

Page 45: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com
Page 46: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

What have they analysed? 2.Y-SNPs(Single nucleotide polymorphisms ,SNPs)

They analysed at least 16 Y-SNPs loci.

They are placed all of these samples in

haplogroup C*(xC3c), which is common in

Asia.

Page 47: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com
Page 48: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

What is the clue from the Y-STR&Y-SNPs analysis?

The highest frequency was in Mongolia

leading to the assumption that it was the

source of these particular male lineages.

Page 49: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Conclusion the geographical distribution of these populations

closely matches the area of Genghis Khan’s

former Mongol Empire. The evidence that this Y-

lineage was from Genghis Khan and his close

male-line relatives was strengthened by a match

to a group in Pakistan who by oral tradition

consider Themselves direct male-line

descendants of Genghis Khan.

Page 50: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part Ⅱ

Summary of Parentage test

Page 51: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part SummaryⅡ

Every year in China , more than 300,

000 paternity cases are performed where

the identity of the father of a child is in

dispute. These cases typically involve the

mother, the child, and one or more alleged

fathers.

Page 52: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part SummaryⅡ

The determination of parentage is made

based on whether or not alleles are shared

between the child and the alleged father

when a number of genetic laws of

Inheritance.

Page 53: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part SummaryⅡ

(Ⅰ) Parentage test

a kind of identification that

determines the blood

relationship between alleged

parents and the child according

to genetic law via genetic

markers analysis.

Page 54: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅱ) The reasons for parentage test

in China usually include:

1. Illegitimate child, the mother accused that a man

was the biological father of her child.

2. The husband suspected the child was not his

own.

3. It is suspected that the newborn baby was

confused in hospital.

Page 55: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

( Ⅱ ) The reasons for parentage test

in China usually include:

4. Confirmation of missing children or relatives.

5. Identification of the children beyond family

planning.

6. Inheritance disputes.( Children can inherit the

parents' heritage .)

7. Immigration cases.

Page 56: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

( Ⅱ ) The reasons for parentage test in China usually include:

8. Children abduction cases.

9. Pregnancy caused by rape.(Who is the fetus ’father?)

10. Identification of cadaver source(Who is missing

persons ?)

11. mass disaster investigations.(9.11 events occurred in the

United States ; Southeast Asia the tsunami )

Page 57: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

9.11 events wenchuan earthquake

Page 58: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

the tsunami of Southeast Asia

Page 59: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Fertilization

Father’s Sperm Mother’s Egg

Child’s Cell

(Ⅲ) The basic principle of parentage testing

Page 60: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

male’s chromosome

22 pairs of autosomal

a pair of sex chromosomes(X,Y)

Page 61: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Female’s chromosome

22 pairs of autosomala pair of sex chromosomes(X,X)

Page 62: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Father,22+X

Mother,22+X

Daughter

22(pairs)+XX

Son

22(pairs)+XY

Father,22+Y

Mother,22+X

Page 63: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅲ) The basic knowledge of parentage testing

The Mendelian inheritance law is the basis of

paternity testing.

The child inherits 23 chromosomes from the

mother and another set of 23 chromosomes from

the biological father.

Page 64: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅲ) The basic knowledge of parentage testing

Since, the mother contributes half of the child’s

nuclear DNA, the father must contribute the other

half of the child’s nuclear DNA. To human genetic

markers, such as STRs, each person’s DNA

contains two copies of these markers.one copy

inherited from the father and the other from the

mother.

Page 65: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅲ) The basic knowledge of parentage testing

The laboratory performs a series of DNA tests each

for a different genetic marker. First, the analyst

identifies the alleles that are shared between the

mother and child, called maternal obligatory genes

or maternal alleles. The child’s alleles that are not

shared with the mother must come from the

true biological father.

Page 66: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅲ) The basic knowledge of parentage testing

These are called paternal obligatory genes or

paternal alleles. Theoretically, if the alleged

father does not share any one of the paternal

alleles with the child, he will be excluded or found

not to be the child’s biological father.

Page 67: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅲ) The basic knowledge of parentage testing

If the alleged father shares all of the paternal

alleles with the child, he cannot be excluded and

calculations can be made as to his likelihood of

being the father as well as the probability that he

and the mother produced a child with the tested

characteristics.

Page 68: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅳ)The basic principle of parentage testing

1.Child has two alleles for each autosomal marker.

(one from mother and one from biological father)

2.Child will have mother's mitochondrial DNA

haplotype. (barring mutation)

3. Child, if a son, will have father's Y chromosome

haplotype. (barring mutation)

Page 69: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅳ)The basic principle of parentage testing

The basis of paternity comes down to the

fact that in the absence of mutation a child

receives one allele matching each parent at

every genetic locus examined.

Page 70: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part Ⅲ

Parentage Test

Page 71: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part Parentage TestingⅢ

Paternity testing, uses results from a alleged

father ,a mother and a child to answer the

question if the alleged father could have

Fathered the child versus a random man.

Who is my Who is my father?father?

Page 72: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Part Parentage TestⅢ

Paternity testing laboratories often utilize the

same short tandem repeat (STR) multiplexes

and commercial kits to examine markers of child

,one or both parent .The outcome of parentage

test is simply inclusion or exclusion.

Page 73: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅰ) The principle of parentage test

1.The GM in autosome : The Mendelian inheritance law

2.The GM in Y- chromosome: Paternal inheritance

3.The GM in mtDNA: Maternal inheritance

Page 74: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

1.The GM in autosome : Following the Mendelian

inheritance law

(1) The child inherits 23 chromosomes from the

mother and another set of 23 chromosomes from

the biological father. ——Paternity Inclusion ( Is

the father )

( Ⅰ ) The principle of parentage testing

Page 75: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

STR

A locus

STR

B locus

child 1 Child 2

father

mother

father

mother

father

father

mother

mother

homozygous heterozygous homozygous heterozygous

Page 76: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

( Ⅰ ) The principle of parentage testing

1.The GM in autosome : Following the

Mendelian inheritance law

(1)Paternity Inclusion ( Is the father )

If the alleged father shares some of the paternal

alleles with the child, he cannot be excluded and

calculations can be made as to his likelihood of

being the father.

Page 77: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Paternity Inclusion

father

son

mother

Page 78: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Paternity Inclusion

Page 79: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

1.The GM in chromosome: Following the Mendelian inheritance

law

(2)Paternity Exclusion(Not the father)

The child can not take the allele not existing in parents.

If the alleged father does not share any one of the paternal

obligatory genes with the child, he will be excluded or found

not to be the child’s biological father.

( Ⅰ ) The principle of parentage testing

Page 80: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Paternity Exclusion

father

son

Page 81: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Paternity Inclusion

Paternity Exclusion

Page 82: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

FF11 F2F2 CC MM

Parentage Testing

Page 83: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

( Ⅰ ) The principle of parentage testing

2. Y- chromosome

Page 84: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

( Ⅰ ) The principle of parentage testing

2.The GM in Y- chromosome: Paternal inheritance Male offspring Y - DNA typing must be the same as his

father's

Male from one paternal have the same Y-DNA typing.

Page 85: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Y-STR loci Father Son

DYS456 14 14

DYS389Ⅰ 11 11

DYS390 18 18

DYS389Ⅱ 26 26

DYS458 15 15

DYS19 11 11

DYS385 8 8

DYS393 9 9

DYS391 7 7

DYS439 9 9

DYS635 20 20

DYS392 10 10

GATA-H4 9 9

DYS437 14 14

DYS438 12 12

DYS448 18 18

AmpFℓSTR® Y filer Kit

Page 86: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Y-STR profile

Page 87: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com
Page 88: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅰ) The principle of parentage

testing

3.The GM in mtDNA: Maternal inheritance The mtDNA typing of the child is the same as his or

her mother.

All compatriots from one maternal have the same

mtDNA typing.

Page 89: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Maternal Inheritance

father mother

daughter son son

Page 90: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com
Page 91: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

fertilization

Page 92: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Sperm’s nucleus go into the egg, the fertilized egg's mitochondria is from the mother. Sperm mitochondria stay outside fertilized egg.

Page 93: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

mtDNA——D-loop

Same DNA base sequence

A G T T C A A T

A AA G T C TTdaughter

mother

Page 94: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

mtDNA——D-loop

Same DNA base sequence

A G T T C A A T

A AA G T C TTson

mother

Page 95: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Mother

Daughter

Son

Mother,daughter,son have the Same DNA sequence.

Page 96: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

(Ⅱ)The inclusion of Paternity

Page 97: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

D5S818 9 , 9 D5S818

9 , 9

D5S818 9 , 9

M1 AF1

Is the father

(Ⅱ) Paternity inclusion

If the alleged father shares

some of the paternal

obligatory genes with the

child, he cannot be excluded

and calculations can be

made as to his likelihood of

being the father.

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Loci AF1 C1 M1 Result

ABO

blood typing

A O A Can’t be excluded

D16S539 11, 11 12, 11 12, 12 Can’t be excluded

D7S820 11, 10 11, 11 12, 11 Can’t be excluded

D13S317 12, 9 12, 9 13, 9 Can’t be excluded

CSF1PO 12, 9 12, 12 13, 12 Can’t be excluded

TPOX 11, 8 11, 11 11, 9 Can’t be excluded

TH01 9, 8 9, 9 9, 9 Can’t be excluded

F13A01 6, 3.2 3.2, 3.2 6, 3.2 Can’t be excluded

FES/FPS 11, 11 11, 11 11, 11 Can’t be excluded

vWFⅢ 17, 16 17, 16 18, 17 Can’t be excluded

HPRTB 13, 13 14, 13 14, 13 Can’t be excluded

FABP 10, 9 10, 10 11, 10 Can’t be excluded

LPL 12, 10 10, 10 12, 10 Can’t be excluded

D8S1179 11, 10 16, 10 16, 12 Can’t be excluded

Case ACase A :: Paternity ExclusionPaternity Exclusion

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1. Paternity Index (PI)

If the man tested cannot be excluded as the

biological father of the child in question, then

statistical calculations are performed to aid in

understanding the strength of the match. The most

commonly applied test in this regard is the

paternity index (PI).

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1.Paternity Index (PI)

The paternity index (PI) is the ratio of two conditional

probabilities where the numerator assumes paternity and the

denominator assumes a random man of similar ethnic

background was the father. The numerator is the probability

of observed genotypes, given the tested man is the father,

while the denominator is the probability of the observed

genotypes, given that a random man is the father.

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1. Paternity Index (PI)

The paternity index is a likelihood ratio of two probabilities

conditional upon different competing hypotheses. This

likelihood ratio reflects how many times more likely it is to

see the evidence under the first hypothesis compared to

the second hypothesis. When mating is random,the

probability that the untested alternative father will transmit a

specific allele to his child is equal to the allele frequency in

his race 。

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Combined Paternity Index (CPI)

The PI is calculated for each locus and then

individual PI values are multiplied together to

obtain the combined paternity index (CPI) for the

entire set of genetic loci examined.

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2.Relative Chance of Paternity (RCP)

combined paternity index (CPI) is a real number,

and it is difficult to judge the chance of paternity

through this value, Therefore, the CPI is usually

converted into a probability of paternity value, which

specifies the probability.

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Probability of paternity is also called relative

chance of paternity (RCP), and in fact it is the

posterior probability of paternity that the tested

man is the father.

RCP=[PI/ ( PI+1 ) ]×100%

2.Relative Chance of Paternity (RCP)

Page 105: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

STR loci alleged father son mother paternity index

D3S1358 16 16 , 18 15 , 18 13.06287948

TH01 9 9 9 4.200861504

D21S11 29 , 30 30 , 31.2 30 , 31.2 5.679876697

D18S51 15 13 , 15 13 , 14 8.552095948

PentaE 15 , 18 15 19 60.37918126

D5S818 11 11 , 13 11 , 13 5.42122013

D13S317 9 , 11 8 , 9 8 , 9 2.742086175

D7S820 8 , 11 8 , 13 13 39.17340972

D16S539 10 , 12 10 , 12 11 , 12 4.066179181

CSF1PO 10 , 13 11 , 13 11 , 12 9.810754471

PentaD 10 , 11 10 , 12 12 , 13 6.605368844

vWA 14 , 16 16 16 , 19 7.707483134

D8S1179 14 13 , 14 10 , 13 6.377775544

TPOX 8 , 11 8 , 11 8 , 11 1.575832727

FGA 21 , 22 22 22 , 23 8.06160095

D19S433 14.2 13 , 14.2 13 , 15 9.05656659

D2S1338 23 23 23 27.38284864

Amelogenin X, Y X, Y X, X

CPI : 3824607936701020 RCP : 99.9999%

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STR loci alleged father daughter mother paternity index

D3S1358 15 , 17 14 , 17 14 , 15 2.696633674

TH01 7 7 , 10 9 , 10 29.59651661

D21S11 31.2 , 34.2 30 , 34.2 29 , 30 70.43047104

D18S51 13 , 23 13 , 14 13 , 14 3.222078818

PentaE 11 , 17 17 16 88.88888889

D5S818 7 , 11 7 , 12 11 , 12 30.36973328

D13S317 8 8 , 13 8 , 13 24.6008754

D7S820 9 , 12 8 , 9 8 , 11 16.04318569

D16S539 9 9 , 13 11 , 13 9.98109182

CSF1PO 12 12 12 6.300301608

PentaD 11 , 12 12 , 13 13 , 15 6.122049172

vWA 14 , 16 14 , 18 18 , 19 2.482606856

D8S1179 11 , 13 10 , 13 10 , 13 4.818820075

TPOX 9 , 11 8 , 9 8 4.215043423

FGA 22 , 24 23 , 24 22 , 23 3.483951526

D19S433 13 , 13.2 13 , 14 14 , 15.2 1.69653703

D2S1338 19 , 24 19 , 24 19 , 20 4.773513948

Amelogenin X, Y X, X X, X

CPI : 10569379562111000 RCP : 99.9999%

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STR loci alleged mother daughter paternity index

D8S1179 13 13 4.849661

D21S11 32.2,30 29 , 30 24.752475

D7S820 8, 11 8, 11 2.291084

CSFIPO 10 , 12 11 , 12 0.627510

D3S1358 15 , 16 15,16 1.470838

D5S818 9 , 12 9,11 3.360215

D13S317 8, 13 8,10 0.865951

D16S539 11 , 12 12 2.151463

D2S1338 22 , 23 23 2.616431

D19S433 13, 14 13 , 15 0.856751

vWA 17, 19 17, 19 4.038960

D12S391 20, 24 19 , 24 10.000000

D18S51 13 , 22 13, 19 1.419648

D6S1043 11 11 , 18 4.545455

FGA 19, 23 23, 25 1.212415

Amel X X /

CPI : 1125624.4970 RCP : 99.99%

Page 108: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

STR lociI alleged father son paternity index

D8S1179 14 , 16 13 , 16 2.958580

D21S11 32.2 30 , 32.2 3.681885

D7S820 8 , 11 11 , 12 0.677140

CSFIPO 11 , 12 11 , 12 1.712579

D3S1358 15 , 16 15 , 18 0.722335

D5S818 9 , 11 9 , 11 4.090996

D13S317 11 , 12 8 , 11 1.030928

D16S539 12 , 13 10 , 13 2.670940

D2S1338 18 , 20 19 , 20 2.106150

D19S433 14 , 15.2 14 , 14.2 0.990099

vWA 14 14 , 17 1.988072

D12S391 18 , 22 18 , 19 1.308901

D18S51 15 , 17 14 , 17 3.105590

D6S1043 17 , 20 19 , 20 4.545455

FGA 25 24 , 25 5.341880

Amelogenin X , Y X , Y /

CPI:42059.5 ; RCP : 99.99%

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3.The standardization of parentage inclusion

After the parentage test, if the AF still can’t be

excluded, then the rate should be calculated. If the

conclusion meet two identified indicators at the

same time, there should have the predication that

AF is the biological father of the child.

For example of the conclusion:

CPI > 2000, while RCP > 99.99 %

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(Ⅲ)The exclusion of Paternity

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M2 AF2

D8S1179

14 , 14

D8S1179

14 , 14

D8S1179

14 , 16

Exclusion

(Ⅲ) Parentage Exclusion

If the alleged father does not

share any one of the paternal

obligatory genes with the

child, with the precondition of

none mutation exist, he will

be excluded or found not to

be the child’s biological

father.

Page 112: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Loci AF2 C2 M2 Conclusion

D7S1179 14 , 14 14 , 16 14 , 14 excluded

D16S539 10,11, 9 , 13 13, 13 excluded

D7S820 12, 11 9 , 10, 11, 10 excluded

D13S317 12 , 13 10 , 12 10 , 11 can’t be excluded

CSF1PO 10, 10 10 , 11 11, 11 can’t be excluded

TPOX 9 , 10, 8, 8 8 , 11 excluded

TH01 9 , 10 9, 9 9, 9 can’t be excluded

F13A01 3.2, 3.2 6, 4 4, 3.2 excluded

FES/FPS 12, 11 11, 11 11, 10 can’t be excluded

vWFⅢ 19, 18 17, 16 16, 16 excluded

HPRTB 14, 14 13, 12 13, 13 excluded

F13B 9, 9 10, 10 10, 9 excluded

CYAR04 11, 7 6.1, 6.1 11, 6.1 can’t be excluded

CD4 7, 7 12, 12 12, 7 excluded

Case BCase B :: Parentage ExclusionParentage Exclusion

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(Ⅲ) Parentage Exclusion

1. Two Situation :

The child take the allele neither existing in

mother or AF.

The child doesn’t take the allele that the AF must

delivered to his biological child.

Page 114: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

2.The standardization of parentage exclusion

If the alleged father does not share any one of the

paternal obligatory genes with the child, with the

precondition of none mutation exist, he will be

excluded or found not to be the child’s biological

father.

Page 115: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

2.The standardization of parentage exclusion

Attention :

As to avoid the influence of mutation, the cases

only have one or two loci that don’t follow the

genetic law still can’t make the exclusion, more

than three non-shared genetic markers must

occur before an alleged father is reported as

excluded.

Page 116: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

As the existence of mutation and other factors:

1. The cases only have one or two loci that don’t

follow the genetic law still can’t make the exclusion,

only if there add more other genetic markers .

2. More than three non-shared genetic markers must

occur before an alleged father is reported as

excluded.

3. The suggestions during the parentage testing:

Page 117: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

3. The suggestions during the parentage testing:

If three genetic loci do not match between an alleged

father and a child, the alleged father cannot be

excluded as being the true biological father. It is

important to keep in mind that the more genetic

systems examined the greater the chance of a random

mutation to be observed.

Page 118: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

STR loci alleged father son mother

D16S539 11, 10 13, 9 13, 13 excluded

D7S820 12, 11 10, 9 11, 10 excluded

D13S317 13, 12 12, 10 11, 10 can’t be excluded

CSF1PO 10, 10 11, 10 11, 11 can’t be excluded

TPOX 10, 9 8, 8 11, 8 excluded

TH01 10, 9 9, 9 9, 9 can’t be excluded

F13A01 3.2, 3.2 6, 4 4, 3.2 excluded

FES/FPS 12, 11 11, 11 11, 10 can’t be excluded

vWFA31/A 19, 18 17, 16 16, 16 excluded

HPRTB 14, 14 13, 12 13, 13 excluded

F13B 9, 9 10, 10 10, 9 excluded

CYAR04 11, 7 6.1, 6.1 11, 6.1 excluded

CD4 7, 7 12, 12 12, 7 excluded

Page 119: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

STR loci alleged father son paternal index

D8S1179 14 12 , 14 2.6302

D21S11 30 , 32.2 31 , 31.2 0.0008

D7S820 8 , 12 8 3.2279

CSFIPO 10 , 12 11 , 12 0.6275

D3S1358 16 , 18 15 0.0007

D5S818 11 10 0.0007

D13S317 8 , 11 8 , 11 1.8969

D16S539 11 , 12 11 , 12 1.8005

D2S1338 24 , 25 19 , 24 1.9113

D19S433 13 , 16 13 , 14 0.8568

vWA 14 , 19 16 , 17 0.0001

D12S391 18 18 5.2356

D18S51 15 , 21 14 0.0015

D6S1043 14 , 17 19 0.0007

FGA 22 , 24 24 2.8736

Amelogenin X, Y X, Y /

CPI=0.00000000000000002,RCP=0.000000000000002%

PS: The loci that doesn’t follow the genetic law calculate PI according to the mutation rate at μ=0.002.

Page 120: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Questions:

1.The principle of parentage testing?

2.The Genetic Marker usually used in

parentage testing?

3.The standardization of parentage inclusion?

4.The standardization of parentage exclusion?

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Page 122: Paternity Test The college of Forensic Medicine in Kunming Medical University Bingying Xu, Tel:13769175605 Email:bingying_xu@126.com

Thank you!