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Mendel and the Gene Idea

Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

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Page 1: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Page 2: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Mendel’s law of independent assortment:– Each allele pair segregates independently of

other gene pairs during gamete formation.

Page 3: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

D om in an ce In com p le te D om in an ce C od om in an ce

Page 4: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Codominance:– Inheritance characterized by full expression of

both alleles in the heterozygote.– Blood type

– AA– BB– AB

Page 5: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Incomplete dominance:– Pattern of inheritance in which the dominate

phenotype is not fully expressed in the heterozygote, resulting in a phenotype intermediate between the homozygote dominate and recessive characteristics.

– Blends

Page 6: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Test Cross: The breeding of an organism with an unknown genotype with a homozygous recessive.

Page 7: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Rule of Multiplication:– The probability that an independent events will

occur simultaneously is the product of their individual probabilities!

Page 8: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

What is the probability that a trihybrid cross between two organisms with genotypes AaBbCc and AaBbCc will produce an offspring with a genotype aabbcc?

Aa x Aa : probability of aa = 1/4 Bb x Bb : probability of bb = 1/4 Cc x Cc : probability of cc = 1/4 Therefore 1/4 x 1/4 x 1/4 = 1/64

Page 9: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Rule of Addition:– The probability of an event that can occur in

two or more independent ways is the sum of the separate probabilities of the different ways

Page 10: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea What fraction of the offspring from the

following cross of garden peas, would show recessive phenotypes for at least two of the three traits? PpYyRr x Ppyyrr– ppyyRr 1/4 x 1/2 x 1/2 = 1/16– ppYyrr 1/4 x 1/2 x 1/2 = 1/16– Ppyyrr 1/2 x 1/2 x 1/2 = 2/16 (1/8)– PPyyrr 1/4 x 1/2 x 1/2 = 1/16– ppyyrr 1/4 x 1/2 x 1/2 = 1/16– 6/16 or 3/8

Page 11: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Multiple Alleles– some genes may have multiple alleles; that is,

more than just two alternative forms of a gene.

– These multiple alleles occupy a single locus– Blood typing A, B, and O

– IA IB and i

Page 12: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Human disorders– Recessive alleles that cause human disorders

are usually defective versions of normal alleles.– Recessively inherited disorders range from

nonlethal traits (albinism) to lethal diseases (cystic fibrosis)

Page 13: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Cystic fibrosis: most common lethal genetic disease in the US among Caucasians

– Frequency 1 in 2500

– 4% of the Caucasians are carriers

– The dominate allele codes for a membrane protein that controls chloride traffic across the cell membrane. -absent in homozygous recessive

– Disease symptoms result from the accumulation of thickened mucus in the lungs and pancreas.

Page 14: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea Tay-Sachs disease: Incidence is about 100x higher

in central European Jews than among Mediterranean Jews

– Frequency 1 in 3600– Brain cells of babies are unable to metabolize

gangliosides - lipid– As lipids increase in the brain, the infant suffers

seizures, blindness, and degeneration of motor skills and mental performance.

– Child dies after a few years

Page 15: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Pleiotropy:– The ability of a single gene to have multiple

phenotypic effects.

– There are many hereditary diseases in which a single defective gene causes complex sets of

symptoms Sickle-cell Anemia

Page 16: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Sickle-cell disease: most common in African Americans 1 in 400.– Single amino acid substitution in hemoglobin– Abnormal hemoglobin molecules tend to link

together and crystallize when blood O2 is lower than normal

– Causes the erythrocyte to form a sickle shape– Sickle cells clog small vessels causing pain,

discomfort and fever.

Page 17: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Sickle Cell– 1 in 10 African Americans are carriers– Codominance - carriers may experience

discomfort during periods of low blood Ox levels - other wise function normally

– Believed to be result of malaria infestation in tropical regions

Page 18: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Sickle cell:– The probability of inheriting the same rare

harmful allele from both parents, is greater if the parents are closely related.

Page 19: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

Huntington’s disease– Lethal dominate (late acting)– a degenerative disease of the nervous system– does not show until age 35-40– irreversible to death– found at the tip of chromosome #4

Page 20: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Mendel and the Gene Idea

PKU (phenylketonuria):– recessive 1 in 15,000– patient cannot break down the amino acid

phenylalanine– build up to toxic levels causes mental retardation– tx with a special diet to avoid toxic levels

Page 21: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Chi Square

X2 = Σ (O-E)2

E

The alternate hypothesis in this experiment is to validate the use of the prediction!

The null hypothesis in this experiment is to discredit the use of the prediction!

Page 22: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Chi Square

Degree of freedom: number of possible phenotypic categories minus one.

Page 23: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Chi Square

Evaluate the calculated value with the chart!

If your calculated value is less than the chart value -- then you fail to reject the null!

Page 24: Mendel and the Gene Idea. 4 Mendel’s law of independent assortment: –Each allele pair segregates independently of other gene pairs during gamete formation

Chi Square

Last, evaluate your p= value

If you fail to reject your null, then this value identifies the percent chance that any difference in your results is due to random chance!