Mendelian Genetics

1. Mendelian Genetics

2. Genes and The Environment • The product of a genotype is generally not a rigidly defined phenotype, but a range of phenotypic possibilities, the norm of reaction, that are determined by the environment. • In some cases the norm of reaction has no breadth (for example, blood type). • Norms of reactions are broadest for polygenic characters. • For these multifactorial characters, the environment contributes to their quantitative nature.

3. Sun (smaller) and shade leaves in a hosta

4. Young Arnold Schwarzenegger

5. Environment and intelligence tests

6. Environmental influence – flower color in hydrangea – Blue color occurs in more acid soil

7. Phenotype depends on the interaction of environment and genes – even identical twins accumulate phenotypic differences

8. Mendelian Inheritance in Human Pedigree Analysis

9. Key to reading Genetic pedigrees

10. b) (a) Is an attached earlobe a dominantor recessive trait? Is a widow’s peak a dominant orrecessive trait? Key Affected female Mating Male Affectedmale Female Offspring 1stgeneration Ff ff Ff Ff 1stgeneration Ww ww ww Ww 2ndgeneration 2ndgeneration ff ff ff Ff FF or Ff Ff Ww ww ww Ww Ww ww 3rdgeneration 3rdgeneration ff FForFf WWorWw ww No widow’speak Freeearlobe Widow’speak Attachedearlobe

11. Sex and Inheritance • Sex-linked genes are carried on the sex chromosomes – like hemophilia and color blindness that are carried on the X and thus show up more often in males or hairy ears that is carried on the Y and only shows up in males • Sex-influenced genes are carried on regular autosomal chromosomes but the expression is influenced by the sex of the individual - The sex influence appears to be related to levels of male sex hormones – in particular testosterone – more testosterone leads to greater expression of the trait

12. Sex-linked - hemophilia

13. Sex-linked - hemophilia

14. Queen Victoria and hemophilia

16. Pattern baldness – sex-influencedMethod of inheritance

17. Pattern baldness in the Adams Family

18. Albinism Parents NormalAa NormalAa Sperm a A Eggs Aa Normal(carrier) AA Normal A Aa Normal(carrier) aa Albino a

19. Cystic Fibrosis

21. Cystic fibrosis • One in 25 whites of European ancestry is a carrier, 1 in 2500 is affected. • The normal allele codes for a membrane protein that transports Cl- between cells and the environment. • If these channels are defective or absent, there are abnormally high extracellular levels of chloride that causes the mucus coats of certain cells to become thicker and stickier than normal. • This mucus build-up in the pancreas, lungs, digestive tract, and elsewhere favors bacterial infections. • Without treatment, affected children die before five, but with treatment can live past their late 20’s or even longer.

22. Sickle-cell anemia • It affects one of 400 African Americans, 1 in 12 African Americans carries the trait. • It is caused by the substitution of a single amino acid in hemoglobin. • When oxygen levels in the blood of an affected individual are low, sickle-cell hemoglobin crystallizes into long rods. • This deforms red blood cells into a sickle shape.

23. Sickle-cell anemia – pleiotropy

24. Distribution of Sickle-Cell Anemia

25. Distribution of malaria

26. Achondroplasia – a dominant trait Effects 1 in 10,000 people, 99.99% of population are homozygous recessive for trait

27. Huntington’s disease – lethal autosomal dominant

28. Huntington’s Disease • The dominant lethal allele has no obvious phenotypic effect until an individual is about 35 to 45 years old. • The deterioration of the nervous system is irreversible and inevitably fatal. • Any child born to a parent who has the allele for Huntington’s disease has a 50% chance of inheriting the disease and the disorder. • Recently, molecular geneticists have used pedigree analysis of affected families to track down the Huntington’s allele to a locus near the tip of chromosome 4.

29. Woody Guthrie Huntington’s Disease Sufferer

30. Genetic Counseling • Consider a hypothetical couple, John and Carol, who are planning to have their first child. • In both of their families’ histories cystic fybrosis, a recessive lethal disorder is present, and both John and Carol had brothers who died of the disease.

31. Genetic Counseling • While neither John and Carol nor their parents have the disease, their parents must have been carriers (Aa x Aa). • John and Carol each have a 2/3 chance of being carriers and a 1/3 chance of being homozygous dominant. • The probability that their first child will have the disease = 2/3 (chance that John is a carrier) x 2/3 (chance that Carol is a carrier) x 1/4 (chance that the offspring of two carriers is homozygous recessive) = 1/9.

32. Genetic Counseling • If their first child is born with the disease, we know that John and Carol’s genotype must be Aa and they both are carriers. • The chance that their next child will also have the disease is 1/4. • Mendel’s laws are simply the rules of probability applied to heredity.

33. 3 2 1 1 2 (a) Amniocentesis (b) Chorionic villus sampling (CVS) Ultrasound monitor Ultrasoundmonitor Amnioticfluidwithdrawn Fetus Placenta Suctiontubeinsertedthroughcervix Fetus Chorionic villi Placenta Cervix Uterus Cervix Uterus Centrifugation Several hours Fluid Several hours Biochemicaland genetictests Fetal cells Fetal cells Severalweeks Several hours Several weeks Karyotyping

35. Arlene George Figure 14.UN07 Ann Sandra Tom Sam Wilma Michael Carla Daniel Alan Tina Christopher