The document outlines different concepts in genetics including: 1) Mendel's foundational work in the mid-1800s studying inheritance in pea plants which formed the basis of modern genetics principles. 2) Basic terminology and Mendel's principles including genes, alleles, dominance, segregation, and independent assortment. 3) Examples of inheritance patterns like monohybrid crosses, sex-linked traits, multiple alleles as in blood types, and polygenic traits influencing characteristics like eye and hair color. 4) Various human genetic disorders resulting from chromosomal abnormalities, mutations, and environmental factors interacting with genetics.

1. CHAPTER 9 PATTERNS OF INHERITANCE (GENETICS) I. The Foundation of Genetics II. Basic Terminology III. Modern Principles of Inheritance IV. Solving Genetics Problems A. Monohybrid Cross V. Sex-Determination and Sex-Linked Traits VI. Non-Mendelian Patterns of Inheritance VII. Human Genetic Disorders/Conditions VIII. How Phenotypes are Affected by Non-genetic Factors (Environment)

2. I. The Foundation of Genetics ______________(mid-1800s) - Austrian monk, Father of Genetics - studied inherited ________ in edible garden peas by making hybrids

3. p. 141 Fig. 9-10

4. 1884 – Mendel died 1900s – his work was _________________ by Carl Correns Hugo de Vries Erich Tshermak II. Basic Terminology

5. III. Modern Principles of Inheritance (Based on Mendel’s Work) 1. Each trait is determined by a ____________; an organism has two _____________ for each gene. 2. Law of Dominance genotype Aa Bb 3. Law of Segregation Aa Bb 4. Law of Independent Assortment AaBb A a B b Ab aB ab AB gametes gametes

6. IV. Solving Genetics Problems A. Monohybrid Cross

7. V. Sex-Determination and Sex-linked Traits X chromosome Y chromosome Fig. 9-14 p. 144

8. VI. Non-Mendelian Patterns of Inheritance A. Multiple Alleles and Co-dominance e.g., human blood types

9. Genotype AA, Ao BB, Bo AB oo (Universal donor) Frequency in the U.S. (Universal recipient ) Table 9-1 p. 146 Human Blood Group Characteristics

10. B. Polygenic Inheritance - when several genes influence a ____________________ e.g., eye color skin color father mother

11. VII. Human Genetic Disorders or Conditions - mutations - A. Due to abnormal # of autosomes e.g., Down syndrome or ____________ Fig. 9-22a p. 153

12. Baby with Down syndrome Typical Down syndrome’s hands and feet

13. Genetic test for Down syndrome ( F luorescence I n S itu H ybridization or FISH) Fig. 9-23 p. 153

14. Why are there 3 copies of chromosome # 21? ________________________: - the failure of chromatids to separate during anaphase II

15. B. Due to chromosomal deletions or presence of several repeats of a DNA sequence 1) Cri-du-chat syndrome - “ ___________________________” (French) - deletion of short arm of chromosome # 5 - severely impaired _____________________

16. 2) Fragile X syndrome - multiple copies of GAT can inactivate the entire _________________________ - the most common form of inherited _________________________________ - attention deficit, ____________________ - large ears, long face, flat feet

17. C. Due to imbalance in the # of the X and Y chromosomes 1) Turner syndrome - X 1/3000 live births (females) 2) Trisomy X - XXX 1/1500 3) Klinefelter syndrome – XXY 1/1000 males 4) Jacob Syndrome – XYY 1/1000 males

18. TURNER SYNDROME

19. KLINEFELTER SYNDROME

20. D. Due to single gene mutations or defects 1) Due to X-linked recessive alleles a) hemophilia b) red-green colorblindness c) Duchenne muscular dystrophy d) cleft palate 2) Due to autosomal gene defects (recessive) a) sickle cell anemia - abnormal ____________________

21. Normal red blood cells Sickle cells (abnormal red blood cells)

22. b) Cystic fibrosis - non-functional _______________________ - produce excessive _______________ - lung infections

23. D. Due to single gene defects…continued 3) Due to dominant alleles e.g., Huntington’s disease - delayed onset disease - brain slowly deteriorates: ___________ - loss of ________________________ - painful paralysis - Huntington gene – Chro. # 4 (1993) - huntingtin protein forms aggregates in __________________ which die off

25. VIII. How Phenotypes are Affected by Non-genetic Factors (Environment) A) Himalayan rabbit genotype = BB or Bb B = black fur phenotype? = __________________________________ Why???

26. - enzyme producing black pigment - ______________ at 93 ° F (34 ° C) B) Colors of pea flowers - ________________________________________ C) Height - _________________________________ D) Skin color - ________________________________ E) Intelligence F) Susceptibility to cancer