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Genetic Disorders
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
Sickle Cell Anemia Abnormal shaped Hemoglobin molecules
Poor Blood Circulation
Recessive Trait
Carriers and diseased are immune to MALARIA
Healthy Lung vs. Cystic Fibrosis
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
Huntington's Disease
Brain cell inhibitor
Gradual decay of
the brain tissue
No effects until
middle age
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
Color Blind
Hemophilia Defective
clotting
protein
Blood does
not clot
Sex-Linked
Recessive
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%
Genetic Counseling
Medical guidance that informs people of
their genotype
Uses pedigrees, Punnet squares, and
more advanced models to calculate
probable offspring