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Genetic Disorders
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Recessive Disorders
Homozygous Dominant: 2 healthy genes;
healthy
Homozygous Recessive: 2 disease
causing genes; have the disease
Heterozygous: 1 healthy gene & 1 disease
causing gene; carrier of disease but
healthy
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Sickle Cell Anemia Abnormal shaped Hemoglobin molecules
Poor Blood Circulation
Recessive Trait
Carriers and diseased are immune to MALARIA
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Healthy Lung vs. Cystic Fibrosis
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Cystic Fibrosis
Defective transport protein
Mucus clogs the organs, most commonly lungs
Recessive trait
Carriers are immune to TYPHOID FEVER: digestive infection of the middle ages
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Huntington's Disease
Brain cell inhibitor
Gradual decay of
the brain tissue
No effects until
middle age
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Sex-Linked Disorders
Carried on the X-chromosome
Women can be healthy (XX), carriers
(XHX), or diseased (XHXH)
Men can be healthy (XY) or diseased (XHY)
Color Blindness
Pattern Baldness
Hemophilia
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Color Blind
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Hemophilia Defective
clotting
protein
Blood does
not clot
Sex-Linked
Recessive
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Heterozygous
(carrier) XHX
Sex-Linked Diseases In humans hemophilia is a sex-linked
recessive gene. If the mother is heterozygous for the disease, and the father does not have the gene, what will be the ratios/percentages of genotypes & phenotypes.
Parents
Genotype
Ratios/Percents
= 1:4 =
Phenotypes
Ratios/Percents
= 1:4 = XH
Y
X
X
XHX
XY XHY
XX
25%
XX XHY
= 1:4 =
= 1:4 = 25% 25 %
25%
= 1:4 =
25%
Healthy = XY
XHX
XY = 1:4 =
25 %
Carrier
Female
Healthy
Female
Diseased
Male
Healthy
Male = 1:4 =
= 1:4 = 25%
25%
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Genetic Counseling
Medical guidance that informs people of
their genotype
Uses pedigrees, Punnet squares, and
more advanced models to calculate
probable offspring