Two copies of each autosomal gene affect phenotype Mendel studied autosomal gene traits like hair texture Mendel s rules of inheritance apply to autosomal genetic disorders A heterozygote for a recessive disorder is a carrier ID: 909953
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Slide1
KEY CONCEPT The chromosomes on which genes are located can affect the expression of traits.
Slide2Two copies of each autosomal gene affect phenotype.Mendel studied autosomal gene traits, like hair texture.
Slide3Mendel’s rules of inheritance apply to autosomal genetic disorders.
A heterozygote for a recessive disorder is a carrier.
Disorders caused by dominant alleles are uncommon.
(dominant)
Slide4Autosomal Dominant disorders.
Hutchingson-Gilford Syndrome Progeria.
Autosomal Dominant Disorder.Rare genetic disorder that accelerates aging in children
Slide5Autosomal Dominant disorders.
Marfan Syndrome.
Autosomal Dominant Disorder.Affects the connective tissue in the body.Caused by a protein in the connective tissue.
Slide6Autosomal Recessive disorders.
Blood disorder of deformed blood cells,
As a result children affected cannot maintain Hemoglobin in the normal range. Prevalent in Mediterranean people.
Slide7Autosomal Recessive disorders.
Ehlers Danlos Syndrome
A defect in their connective tissue. Caused by a reduced amount of collagen.Typically affects the joints, skin and blood vessels.
Slide8Males and females can differ in sex-linked traits. Genes on sex chromosomes are called sex-linked genes. Y chromosome genes in mammals are responsible for male characteristics.X chromosome genes in mammals affect many traits.
Slide9X-linked recessive trait.
Hemophilia.
A blood disorder in which certain blood clotting factors are not produced.Results in excessive bleeding that can damage organs and tissue.
Slide10X-linked dominant traitsColor Blindness.Expressed in both males and females who have an X-chromosome.
Slide11X-linked recessives traitsDuchenne Muscular DystrophyA condition that causes muscle degeneration.
Slide12Y Chromosome infertility is a condition that affects the production of sperm.This makes it difficult or impossible for affected men to father children.
This disorder will be passed on to sons.
Y Linked disorders
Slide13Y-Linked disorder.Swyer SyndromeA condition in which people with one X and one Y chromosome (normally present in males) have a female appearance.
The gonads (testes/ovaries) are non functional.
Slide14X-linked recessives traitsFragile X SyndromeResults in learning, behavioral and intellectual disabilities.
Slide15Klinefelter Syndrome
Slide1647 XYY Syndromemales with this condition may be taller than average, but typically causes no unusual physical features. Most males have normal sexual development and are able to father children.Some symptoms may include learning problems and delayed emotional maturity.
Twin Brothers: The taller has 47XYY
Slide17Slide18Male mammals have an XY genotype.
All of a male
’
s sex-linked genes are expressed.
Males have no second copies of sex-linked genes.
Slide19Female mammals have an XX genotype.
Expression of sex-linked genes is similar to autosomal genes in females.
X chromosome inactivation randomly
“
turns off
”
one X chromosome.