This land is your land
and this land is my land
from California to the New York Island
from the redwood forest to the Gulf Stream waters
This land was made for you and me.
-Woody Guthrie

GENETIC DISORDERS IN PEOPLE

Campbell and Reece, Chapter 14

Sickle cell anemia
TRANSPARENCY (Fig. 14.15) If homozygous, red blood cells have abnormal shape
hgb clumps in low O2, heterozygotes (trait) largely normal
TRANSPARENCY (Fig. 5.19) [review from earlier chapter]
2 alpha, 2 beta. Beta 146 aa, 6th valine instead of
glutamic acid, GUG instead of GAG
2 SLIDES blacks, heterozygous gives resistance to malaria
TRANSPARENCY (Fig. 23.10) sickle cell anemia correlates with malaria.

Hemophelia (4 SLIDES)
pedigree
Victoria, Nicholas II & Alexandra - Alexis, Rasputin
on X
problem with AIDS for clotting factor

Tay Sachs, inbreeding, incest taboos
east Europe ghettos, 1/30 Am. Jews carry
lipidosis, detect by 6 mo, die by 5
Genetic counseling - ressive 2 carriers = 1/4

Amish Ellis van Creveld syndrome - short arms legs extra fingers. 1720-1780 200 from Switzerland to PA now about 8000 in Lancaster

PKU phenyl keton uria phenylalanine to tyrosine lophenylac
(diet costs $1000/yr)
1/10000
Hard for PKU female to have non-PKU child

Lethals detrimentals
- everyone carries several recessives, but different
become homozygous if inbreeding

Huntington's - chorea - age 40's or 50's death in 10-20 years
By that age, person has probably already reproduced
autosomal dominant - 50:50 chance to pass on mapped to chromosome #4
SLIDE Woody Guthrie died of it, his son Arlo, in the movie Alice's restaurant worries about it
Big family tree in Venezuela studied by Nancy Wexler (Fig. 14.16) -> get gene
one of a group of triplet repeat diseases, in this case, CAG (codes for glutamine
very bad do victims want to know?
does wife have a right to know?
if amniocentesis, may say husband has

MILD

eye color >2 genes 2 completely dominant alleles can have 5 colors if AaBb x AaBb light and dark blue and 3 shades of brown

color blindness (next semester) complicated
x-linked
SLIDE 3 cone types red (yellow) green blue

Albinism (SLIDE Winter, SLIDE siamese cat)
TRANSPARENCY Albino tiger cover of Science

Eugenics - Galton 1880's, immigration restrictions 1920's
counseling
TRANSPARENCY (Fig. 14.17) amniocentesis abortion, but late, ethical & emotional problems
chorionic villus biopsy - earlier detection
artificial insemination
Genetic engineering

This page was last updated 7/30/02

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