Chapter 12: Chromosomes and Human Inheritance 12.1 Human Chromosomes 12.2 What is Karyotyping?
sex chromosomes one of two kinds of homologous chromosomes that, in certain combinations, dictate the gender of the new individual. Also has genes unrelated to sexual traits. autosomes of a sexually reproducing species, any chromosome of a type that is the same in both males and females karyotype preparation of an individual s metaphase chromosomes arranged by length, centromere location, and shape 1. 2. 3. 4. 5. Schizophrenia Creative Genetic Diplod Sex chromosomes 6. 7. 8. 9. 10. Autosomes Colchicine Metaphase Hypotonic Stained 11. 12. 13. 14. Karyotyping Spectral karyotyping Philadelphia cancer
12.3 Examples of Autosomal Inheritance Patterns 12.4 Too Young, Too Old 1. 2. 3. 4. 5. 6. a b a ab b a 7. 8. 9. 10. 11. b a b ab ab 12. Woman = Gg; man = gg; affected child = gg; normal children = Gg or GG 13. 50%
12.5 Sex Determination in Humans 12.6 What Mendel Didn t Know: X-Linked Inheritance 12.7 Examples of X-Linked Inheritance Patterns reciprocal crosses a paired cross that may identify the role of parental sex on the inheritance of a trait. In the second cross, a trait characteristic of each sex is reversed compared to the original cross 1. 2. 3. 4. 5. A E B C A. red eyed males and hetero red eyed female b. red eyed females (X+X+), red eyed females (X+Xw), red eyed males (X+Y), white eyed males (XwY) 6. A. X+ Y X+ X+X+ X+Y XH X+XH XHY b. X+XH x XHY and XHXH x XHY
12.8 Heritable Changes in Chromosome Structure 12.9 Heritable Changes in the Chromosome Number duplication base sequence in DNA that has been repeated two or more times
deletion loss of a chromosome segment; often leads to genetic disorders. Also the loss of one or more nucleotide bases from a DNA molecule inversion a chromosomal alteration; part of the DNA sequence gets oriented in the reverse direction, with no molecular loss translocation attachment of a piece of a broken chromosome to another chromosome. Also, a mechanism by which organic compounds are conducted in phloem. aneuploidy a type of chromosome abnormality in which body cells have one extra or one less chromosome relative to the parental chromosome number nondisjunction failure of sister chromatids or homologous chromosomes to move apart in meiosis or mitosis. Daughter cells get too many or too few chromosomes polyploidy a case of somatic cells having three or more of each type of chromosome characteristic of the species 1. 2. 3. 4. 5. Duplication b Inversion c Deletion a Translocation d All gametes will be abnormal 6. = abnormal 7. Polyploidy = #+ of ea chromosome trisomic = 3 of 1 type, 2 of every other type monosomic = 1 type of 1 type, 2 of every other type 8. C 9. B 10. C 11. 12. 13. 14. 15. 16. 17. D A B D C A d
12.10 Human Genetic Analysis 12.11 Prospects in Human Genetics pedigree chart of connections among individuals related by descent syndrome the set of symptoms that characterize a medical condition 1. 2. 3. 4. 5. 6. 7. 8. a e b f c g d genetic abnormality uncommon heritable change in phenotype that usually causes few if any problems genetic disorder heritable change that causes med problems syndrome set of symptoms that characterize particular disorder A B C C B D D E D C C B D C A Phenotypic Phenylketonuria 26. Prenatal 27. Amniocentesis 28. Chrionic villi sampling 29. Abortion Self Quiz 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. A D C C B A C B B C
9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25.