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Mendelian Genetics. Genes and The Environment The product of a genotype is generally not a rigidly defined phenotype, but a range of phenotypic possibilities,

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Presentation on theme: "Mendelian Genetics. Genes and The Environment The product of a genotype is generally not a rigidly defined phenotype, but a range of phenotypic possibilities,"— Presentation transcript:

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 Key Male Female Affected male Affected female Mating Offspring 1st generation 2nd generation 3rd generation 1st generation 2nd generation 3rd generation Is a widow’s peak a dominant or recessive trait? (a) Is an attached earlobe a dominant or recessive trait? b) Widow’s peak No widow’s peak Attached earlobe Free earlobe FF or Ff WW or Ww Ww ww Ww ww Ff ff FF or Ff ff

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

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14 Queen Victoria and hemophilia

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16 Pattern baldness – sex-influenced Method of inheritance GenotypePhenotype MaleFemale BBBald BbBaldNot bald bbNot bald

17 Pattern baldness in the Adams Family

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

19 Cystic Fibrosis

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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 anem ia 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 (a) Amniocentesis (b) Chorionic villus sampling (CVS) Ultrasound monitor Amniotic fluid withdrawn Fetus Placenta UterusCervix Centrifugation Fluid Fetal cells Several hours Several weeks Biochemical and genetic tests Karyotyping Ultrasound monitor Fetus Placenta Chorionic villi Uterus Cervix Suction tube inserted through cervix Several hours Fetal cells Several hours 11223

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35 Figure 14.UN07 George Arlene SandraTomSamWilma Ann Michael Carla DanielAlanTina Christopher


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