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. Pleiotropy d. Epistasis e. Polygenic inheritance 2. Human Genetics and Disease Practice questions up Wednesday, Review Monday in LFSC UNLH 1000 6:10 (Paine) 9:00 p.m. (Morse starts midway) Paine & Morse office hours: T, W 2:10-4 1!
Concept 14.3: Inheritance patterns are often more complex than predicted by simple Mendelian genetics The relationship between genotype and phenotype is rarely as simple as in the pea plant characters Mendel studied Many heritable characters are not determined by only one gene with two alleles However, the basic principles of segregation and independent assortment apply even to more complex patterns of inheritance
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Dominance
The characters Mendel worked with have a relatively simple genetic basis: 1. One gene locus at a time 2. Only two alleles 3. One allele is completely dominant to the other
A type of inheritance in which the phenotype of the heterozygous genotype and the phenotype of the dominant homozygous genotype are indistinguishable.
CW P C RC R CWCW
R R W
CW
R
W C C C C C
C R C RC W C RC W
F1
C RC W 100% CR CW
R R
F2 C RC R 25%
See Figure 14.10
C C C CW
R W CW C C CWCW
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Dominance
How does incomplete dominance differ from blending inheritance?
Homozygous,
C C
Homozygous,
C C
Heterozygous,
C C
Flower color in snapdragons (Antirrhinum sp.)
A type of inheritance in which the phenotype of the incomplete dominance = heterozygous genotype is intermediate between the phenotypes of the two homozygous genotypes.
Multiple Alleles!
Most genes exist in populations in more than two allelic forms! For example, the four phenotypes of the ABO blood group in humans are determined by three alleles for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA, IB, and i.! The enzyme encoded by the IA allele adds the A carbohydrate, whereas the enzyme encoded by the IB allele adds the B carbohydrate; the enzyme encoded by the i allele adds neither!
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i is recessive to A and B.
See Fig. 14.11
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Pleiotropy
Function 1: transports vitamin A Function 2: absorbs UV light
gecko sunglasses
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Pleiotropy =
The situation in which a single gene has multiple phenotypic effects
Heterozygous individuals ALSO have resistance to several forms of malaria Sickle cell disease See pp. 277-278
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Epistasis!
In epistasis, a gene at one locus alters the phenotypic expression of a gene at a second locus! For example, in mice and many other mammals, coat color depends on two genes! One gene determines the pigment color (with alleles B for black and b for brown)! The other gene (with alleles C for pigment color and c for no pigment color ) determines whether the pigment will be deposited in the hair !
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- Mendel solely used qualitative characters = either this or that (no intermediates) - Mendel ignored quantitative characters = more or less Characters (vary along a continuum)
Trait 2
Table 14.1
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Polygenic Inheritance!
Quantitative characters are those that vary in the population along a continuum! Quantitative variation usually indicates polygenic inheritance, an additive effect of two or more genes on a single phenotype! Skin color in humans is an example of polygenic inheritance!
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AaBbCc
AaBbCc
See Fig. 14.13 Human skin color at least 3 separate genes are involved
Fraction of progeny
aabbcc
20/64
Aabbcc
15/64
6/64
1/64
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Nature and Nurture: The Environmental Impact on Phenotype Another departure from Mendelian genetics arises when the phenotype for a character depends on environment as well as genotype The norm of reaction is the phenotypic range of a genotype influenced by the environment For example, hydrangea flowers of the same genotype range from blue-violet to pink, depending on soil acidity
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Pedigree Analysis
A pedigree is a family tree that describes the interrelationships of parents and children across generations Inheritance patterns of particular traits can be traced and described using pedigrees
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Fig. 14-15b
Ff
Ff
ff
Ff
FF or Ff ff
ff
Ff
Ff
ff
ff
FF or Ff
Free earlobe
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Disease/disorder
Symptoms
Dwarfism Blindness Degeneration of the nervous system Early-onset high blood cholesterol Extra fingers and toes
> 2000 human diseases or disorders are caused by singlelocus dominant alleles. > 1300 human diseases or disorders are caused by singlelocus recessive alleles.
Recessive
Thick, sticky intracellular mucus Inability to digest lactose Liver enzyme deficiency mental retardation Anemia Build up of lipids in the brain
Sex-linked
~ 1 Inability to babies in the US is born with extra in 400 distinguish red/green Reduced toes. So fingers or blood-clotting 399 in 400 babies are homozygous recessive for this character.
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Multifactorial Disorders
Many diseases, such as heart disease and cancer, have both genetic and environment components Little is understood about the genetic contribution to most multifactorial diseases
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Newborn Screening
Some genetic disorders can be detected at birth by simple tests that are now routinely performed in most hospitals in the United States In amniocentesis, the liquid that bathes the fetus is removed and tested Other techniques, ultrasound and fetoscopy, allow fetal health to be assessed visually in utero
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Genotypes of F1s of both sexes in a tetrahybrid cross are AaBbccDd. Assuming independent assortment, what is the probability F2 offspring will be (a) aabbccdd or AABBccDD; (b) AaBBccdd; (c) AaBbccDd!
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Charles and his former wife had a child; the child had cystic brosis. His new wife, Elaine, had a brother who died of cystic brosis. Neither Charles, Elaine, or their two children have cystic brosis. What are the odds their third child will have this disease (neither of Elaines parents had cf)? !
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