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Chapter 12 Inheritance Patterns and Human Genetics 12.1 Objectives Distinguish between sex chromosomes and autosomes. Explain the role of sex chromosomes. Know the difference between chromosome mutations and gene mutations. I. Chromosomes A. What is a Chromosome? A. A vehicle of genetic information B. Sex Chromosomes A. B. C. D. Determine the sex of organisms XX = female XY = male Information on these chromosomes gives the organism the sex specific characteristics. C. Autosomes 1. the remaining chromosomes 2. 22 pairs 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. III. Diseases from Chromosome Mutations A. Down Syndrome (Trisomy 21) A. B. C. D. E. F. Extra copy of chromosome #21 Distinct facial features Heart defects Shorter lifespan Early Alzheimers Some degree of mental retardation B. Turner’s Syndrome A. B. C. D. E. Only have 1 X chromosome; no other X or Y Genetically female Do not mature sexually; are sterile Short stature Normal intelligence C. Klinefelter Syndrome A. males have an extra X chromosome (XXY) B. male sex organs C. may have feminine characteristics D. normal intelligence D. Patau Syndrome (Trisomy 13) A. serious eye, brain, and circulatory defects B. Clef palate C. Children only live a few months Cleft Palate Cleft Palate E. Edward’s Syndrome A. Trisomy 18 B. Most children only live a few months C. All major organs affected Sex Linked Inheritance Gene for disease is found on X chromosome. Usually recessive. Affects less females. – Females may have the recessive gene but it can be covered up by the normal dominant gene on the 2nd X chromosome Affects more males – Since males only have 1 X chromosome, the recessive gene will be expressed if present. Red/Green Colorblindness The gene which allows us to distinguish between red and green is on the X chromosome. XC XC XC Xc Xc Xc = Female with normal vision = Female carrier = Female who is colorblind Red/Green Colorblindness The gene which allows us to distinguish between red and green is on the X chromosome. XC Y Xc Y = Male with normal vision = Male who is colorblind Pedigree XY Marriage XX Mother Father Children XX XY XY Daughter Son Son Oldest Youngest PEDIGREE CHARTS A family history of a genetic condition © 2007 Paul Billiet ODWS What is a pedigree chart? Pedigree charts show a record of the family of an individual 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. © 2007 Paul Billiet ODWS Symbols used in pedigree charts Normal male Affected male Normal female Affected female Marriage A marriage with five children, two daughters and three sons. The 2nd eldest son is affected by the condition. Eldest child Youngest child © 2007 Paul Billiet ODWS Organising the pedigree chart – Generations are identified by Roman numerals I II III IV © 2007 Paul Billiet ODWS Some History Hemophilia has played an important role in Europe's history The disease began to crop up in Great Britain's Queen Victoria’s children It became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants How it Spread 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. The Royal Family Tree Pedigree Karyotype