Chapter 12 Inheritance Patterns and Human Genetics

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<ul><li>Slide 1</li></ul> <p>Chapter 12 Inheritance Patterns and Human Genetics Slide 2 12.1 Objectives Distinguish between sex chromosomes and autosomes. Distinguish between sex chromosomes and autosomes. Explain the role of sex chromosomes. Explain the role of sex chromosomes. Know the difference between chromosome mutations and gene mutations. Know the difference between chromosome mutations and gene mutations. Slide 3 I. Chromosomes A. What is a Chromosome? A.A vehicle of genetic information B. Sex Chromosomes A.Determine the sex of organisms B.XX = female C.XY = male D.Information on these chromosomes gives the organism the sex specific characteristics. Slide 4 C. Autosomes 1. the remaining chromosomes 2. 22 pairs Slide 5 II. Chromosome Mutations A. Chromosome Deletion A.Loss of a piece of chromosome B. Chromosome inversion A.Chromosome breaks off; flips and reattaches C. Chromosome translocation A.One chromosome breaks and reattaches to another D. Nondisjunction A.Chromosomes fail to separate correctly resulting in an extra copy. Slide 6 III. Diseases from Chromosome Mutations A. Down Syndrome (Trisomy 21) A.Extra copy of chromosome #21 B.Distinct facial features C.Heart defects D.Shorter lifespan E.Early Alzheimers F.Some degree of mental retardation Slide 7 Slide 8 B. Turners Syndrome B. Turners Syndrome A.Only have 1 X chromosome; no other X or Y B.Genetically female C.Do not mature sexually; are sterile D.Short stature E.Normal intelligence Slide 9 Slide 10 Slide 11 C. Klinefelter Syndrome A. males have an extra X chromosome (XXY) B. male sex organs C. may have feminine characteristics D. normal intelligence Slide 12 Slide 13 D. Patau Syndrome (Trisomy 13) A. serious eye, brain, and circulatory defects B. Clef palate C.Children only live a few months Slide 14 Slide 15 Cleft Palate Slide 16 Slide 17 Slide 18 E. Edwards Syndrome A.Trisomy 18 B.Most children only live a few months C.All major organs affected Slide 19 Slide 20 Slide 21 Sex Linked Inheritance Gene for disease is found on X chromosome. Gene for disease is found on X chromosome. Usually recessive. Usually recessive. Affects less females. Affects less females. Females may have the recessive gene but it can be covered up by the normal dominant gene on the 2 nd X chromosome Affects more males Affects more males Since males only have 1 X chromosome, the recessive gene will be expressed if present. Slide 22 Red/Green Colorblindness The gene which allows us to distinguish between red and green is on the X chromosome. The gene which allows us to distinguish between red and green is on the X chromosome. = Female with normal vision X C X C X C X c = Female carrier X c X c = Female who is colorblind Slide 23 Red/Green Colorblindness The gene which allows us to distinguish between red and green is on the X chromosome. The gene which allows us to distinguish between red and green is on the X chromosome. = Male with normal vision = Male who is colorblind X C Y X c Y Slide 24 Pedigree XY XX Father Mother DaughterSon Marriage Children OldestYoungest Slide 25 PEDIGREE CHARTS A family history of a genetic condition 2007 Paul Billiet ODWSODWS Slide 26 What is a pedigree chart? Pedigree charts show a record of the family of an individual Pedigree charts show a record of the family of an individual They can be used to study the transmission of a hereditary condition They can be used to study the transmission of a hereditary condition They are particularly useful when there are large families and a good family record over several generations. They are particularly useful when there are large families and a good family record over several generations. 2007 Paul Billiet ODWSODWS Slide 27 Symbols used in pedigree charts Normal male Normal male Affected male Affected male Normal female Normal female Affected female Affected female Marriage Marriage A marriage with five children, two daughters and three sons. The 2 nd eldest son is affected by the condition. Eldest child Youngest child 2007 Paul Billiet ODWSODWS Slide 28 Organising the pedigree chart Generations are identified by Roman numerals I II III IV 2007 Paul Billiet ODWSODWS Slide 29 Some History Hemophilia has played an important role in Europe's history Hemophilia has played an important role in Europe's history The disease began to crop up in Great Britain's Queen Victorias children The disease began to crop up in Great Britain's Queen Victorias children It became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants It became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants Slide 30 How it Spread it spread through the Royal Houses of Europe as monarchs arranged marriages to consolidate political alliances. it spread through the Royal Houses of Europe as monarchs arranged marriages to consolidate political alliances. We can trace the appearance of hemophilia as it popped up in Spain, Russia, and Prussia by looking at the family tree. We can trace the appearance of hemophilia as it popped up in Spain, Russia, and Prussia by looking at the family tree. Slide 31 The Royal Family Tree Slide 32 Pedigree Karyotype Pedigree Karyotype Slide 33 Genetic Disorders Slide 34 Huntingtons Disease Gradual brain deterioration Gradual brain deterioration Middle age Middle age Dominant trait found on chromosome 4 Dominant trait found on chromosome 4 1 in 10,000 1 in 10,000 Movie: Love and Other Drugs Movie: Love and Other Drugs Slide 35 Slide 36 Cystic Fibrosis Mucus clogs lungs and pancreas Mucus clogs lungs and pancreas Use to cause early death now victims can live to early adulthood Use to cause early death now victims can live to early adulthood Recessive gene on chromosome 7 Recessive gene on chromosome 7 1 in 900 French Canadiens 1 in 900 French Canadiens 1 in 2000 Europeans 1 in 2000 Europeans Slide 37 Slide 38 Sickle Cell Anemia Organ damage due to impaired blood flow Organ damage due to impaired blood flow Recessive gene on chromosome 11 Recessive gene on chromosome 11 1 in 500 African Americans 1 in 500 African Americans Slide 39 Slide 40 Tay Sachs Disease Deterioration of nervous system Deterioration of nervous system Waste build up causes nerve cell death Waste build up causes nerve cell death Autosomal recessive gene on chromosome 15 Autosomal recessive gene on chromosome 15 1 in 600 Jews of European decent 1 in 600 Jews of European decent Slide 41 Slide 42 Marfan Syndrome Long limbs Long limbs Loose joints Loose joints Deformed spine Deformed spine Crowded teeth Crowded teeth Dominant gene on chromosome 15 Dominant gene on chromosome 15 1 in 20000 Americans 1 in 20000 Americans Abe Lincoln Abe Lincoln Slide 43 Slide 44 Breast Cancer (BRCA -1) Malignant tumors in breast tissue Malignant tumors in breast tissue Dominant gene on chromosome 17 Dominant gene on chromosome 17 8% of breast cancer 8% of breast cancer </p>

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