Chapter 2: Genetics

1. Chapter 2: Genetics Genetic Foundations Heredity & Environment

2. Genetic Foundations • DNA (deoxyribonucleic acid) • a complex molecule containing the genetic information that makes up the chromosomes • has two strands-forming a “double helix”- held together by bonds between pairs of nucleotides (spiral staircase) • Chromosomes • threadlike structures made of DNA molecules that contain the genes

3. Genetic Foundations • Chromosomes • Human beings have 46 chromosomes (23 pairs) • Entire DNA code/set of chromosomes is repeated in each of the cells • Define the limits of species variation; separate species

4. Genetic Foundations • Chromosomes: limits • “Each of us carries a “genetic code” that we inherited from our parents. Because a fertilized egg carries this human code, a fertilized human egg cannot grow into an egret, eagle, or elephant.”

5. Genes: Our Biological Blueprint • Genes • the biochemical units of heredity that make up the chromosomes • a segment of DNA capable of synthesizing a *protein • Genome • the complete instructions for making an organism • *Proteins are the cell building blocks and bodily process regulators.

6. Nucleus Chromosome Gene Cell DNA Genetics and Behavior

7. Genes: Our Biological Blueprint • Human Genome Project • Initial phase completed about the year 2000 • Humans have 20,000 – 25, 000 genes (21,667) • There are far more proteins than genes – 10-20 million • Genes (DNA) are dependent- collaborate with other sources of information • Gene expression/activity is affected by context or environment • Context is affected by hormones, light, nutrition, etc.

8. Genetic Foundations 99.1% of DNA within the human race is identical 98-99% of human and chimpanzee DNA is identical

9. Cell Division – Gamete Production • Mitosis (normal cell division) – the nucleus of the cell & the chromosomes duplicate and divide into 2 cells. Each has the same 23 pairs of chromosomes.

10. Sex cells are formed by meiosis rather than mitosis. Gametes (sperm and ova) have only 23 chromosomes total. At conception, these two unite resulting in a full complement of 46 chromosomes (23 pairs). A fertilized egg is called a zygote. The Sex Cells

11. Alleles are normal variations of a gene, found at the same location. A child who inherits the same allele (type of gene) from both parents is homozygous for that trait. A child who inherits different alleles from each parent is heterozygous for that trait. Sources of Genetic Variation

12. Genetic Expression Influenced by the environment hormones light nutrition behavior stress (cortisol may cause a fivefold increase in DNA damage) Sources of Variation

13. Genetic Foundations Genotype – genetic composition Phenotype – observable characteristics

14. Patterns of Genetic Inheritance Dominant-recessive: the dominant gene (allele) will determine the characteristic Sources of Genetic Variation

15. Patterns of Genetic Inheritance Dominant-recessive: the dominant gene (allele) will determine the characteristic The other allele is recessive or recedes into the background with its effects not being shown. Sources of Variation

16. Examples of dominant genes Dark hair, curly hair, dimples, types A & B blood (vs. type O), traits for normality in vision, hearing, pigmentation, etc. Huntington’s Disease Patterns of Genetic InheritanceDominant-recessive inheritance

17. Examples of recessive genes: Cystic fibrosis, PKU, Tay-sachs disease. Sickle-cell anemia Patterns of Genetic InheritanceDominant-recessive inheritance

18. Co-dominance: both alleles contribute to the phenotype, although not to the same degree. Additive: They contribute about equally (50%-50%). Example of Co-dominance; Sickle-cell anemia Patterns of Genetic InheritanceCo-dominance and Additive

19. X-linked or Sex-linked Inheritance Humans have 23 pairs (46 total) of chromosomes: Pairs 1 – 22 are autosomes; they have exactly the same number of locations for genes. The 23rd pair does not. The X and Y chromosomes do not have equal numbers of gene locations. Females are XX on this pair, and males are XY.

20. Female children receive an X chromosome from the father which matches locations on the mother’s X. Male children receive a Y from the father, which does not have all the gene locations of an X. The defective gene on the mother’s X is offset by the gene on the normal X in females, but not in males. So, males will show evidence of the defective gene (e.g., hemophilia, RG colorblindness). Females will be normal, but carriers of the defective gene. X-linked (sex-linked) inheritance

21. Genes are chemically marked so that one member of the pair is activated regardless of its makeup. Important whether the trait is inherited from the mother or father. Examples: asthma, allergies, Huntington’s , diabetes Sex-linked Genetic InheritanceGenetic Imprinting

22. Polygenic Inheritance • Many genes interact to influence the characteristic • Most psychological characteristics are polygenic • (Where environmental factors are included, traits are said to be multi-factorial.)

23. Usually happen during meiosis Involve breakage and failure to separate Usually result in miscarriage Those most commonly survived are: Down syndrome (trisomy 21) Sex-linked abnormalities Chromosomal Abnormalities

24. Chromosomal Abnormalities: Down’s Syndrome • Trisomy 21: extra copy of a chromosome on the 21st pair • Round face, flattened skull, protruding tongue, extra fold of skin on eyelids, short limbs • Mental and motor retardation • 1 in 700-800 live births • More common to older mothers, rare among African Americans

25. Gene damaged on X chromosome Most common inherited cause of mild to moderate mental retardation Linked to autism More common in males Chromosomal AbnormalitiesSex-linked - Fragile X

26. XXY (Klinefelter) may have verbal difficulties. Tall, underdeveloped testes, possible breasts. 1/800 live male births. XO (Turner) have trouble with math and spatial skills. Short and have webbed neck; may be infertile. 1/2500 live female births XYY (Are they more aggressive, antisocial?) Sex Chromosome Abnormalities

27. Gene-linked Abnormalities • Over 7000 known (most rare), including: • Cystic fibrosis • Diabetes • Hemophilia • Huntington • PKU (phenylketonuria) • Sickle-cell anemia • Spina bifida • Tay-sachs disease

28. Genetic Counseling – for whom? Family history of disease, mental retardation, physical defects History of miscarriages Mother over age 35 (rate of abnormality begins to rise sharply)

29. May cause miscarriage (except ultrasound, maternal blood samples) Is the problem correctible? Genetic engineering is still in the future. Often the only decision is whether or not to abort the fetus. Prenatal Diagnostic Methods

30. Chorionic villi sampling (6-8 weeks); detects genetic defects; risk of miscarriage, limb deformity Amniocentesis – (11 weeks, best after 15 weeks); detects genetic defects; smaller risk of miscarriage Prenatal Diagnostic Methods

31. Fetoscopy – tube with light inserted into uterus; 15-18 weeks; limb & facial defects; some diseases & neural defects; some risk of miscarriage Preimplantation genetic diagnosis – Associated with in-vitro fertilization Prenatal Diagnostic Methods

32. Infertility 1 in 6 couples in U.S. Waiting too late Sexually transmitted diseases Fertility technology (IVF, donors) Adoption Babies culturally unavailable

33. Environmental Influence

34. Impoverished environment Enriched environment Environmental Influence • Rats reared in an environment enriched with playthings show increased development of the cerebral cortex

35. Identical twins Fraternal twins Same sex only Same or opposite sex Twins • Identical Twins • develop from a single fertilized egg that splits in two, creating two genetically identical organisms • Fraternal Twins • develop from separate eggs • genetically no closer than brothers and sisters, but they share a fetal environment

36. Dizygotic (two zygotes) Share approximately 50% of their genetic heritage like any two siblings. Major causes are maternal age and fertility drugs. Twinning dramatically on the increase since the 1970s. Multiple Births – fraternal twins

37. Multiple Births – identical twins Monozygotic – one zygote (same fertilized egg) Share 100% of genetic heritage Occurs about 3 per 1000 live births worldwide Factors may include temperature and oxygen levels and late fertilization

38. Genetics Research • Behavior Genetics • study of the power and limits of genetic and environmental influences on behavior • Molecular Genetics • subfield of biology that studies the molecular structure and function of genes

39. Nature-nurture Research Molecular genetics Human Genome Project Behavioral genetics Twin studies Equal environment assumptions Adoption studies Concordance rates

40. Epigenesis – ongoing nature/nurture exchanges (bi-directional) Reaction range Canalization Genetic-environmental correlation Passive Evocative Active (niche-picking)