autosome- non sex chromosomes, 1-22
recessive
case study
projects
Dominant
Huntington’s- makes too many Huntington proteins
Woody Guthrie
any gene on X or Y
Y is very small
disorders are usually on X
recessive X linked are most often expressed in males
Ex: Colorblindness
groups of cones in the retina have pigments that are sensitive to specific wavelengths
some pigments don’t get made
Ex: Hemophilia- “Royal Disease”
inability to form protein for blood to clot
gene is on an autosome
expression influenced by gender
Ex: Male pattern baldness
not completely bald
can be in arc pattern, random in females
BB- normal, doesn’t matter the gender
bb- bald, M- pattern and F- random
Bb- Males are bald, Females are normal
homologous chromosomes or chromatids don’t separate properly
produces gametes with either too many or too few
resulting offspring will have an incorrect number of chromosomes
Turner Syndrome
has single X chromosome
female but reproductive system does not develop
Klinefelter syndrome
XXY
male, sterile
Down Syndrome
Trisomy 21- have 3 copies of chromosome 21
can be male or female
physically and intellectually challenged
can range from moderate to severe
karyotype- pic of chromosomes
Amniocentesis
small amount of amniotic fluid is removed and cells are grown in a lab
cells are karyotyped
presents slight risks to mother and fetus
takes a while for them to grow
Chorionic villus biopsy
portion of the membrane surrounding embryo is removed and grown
karyotyped
faster, more risky
Pedigree analysis
shade in half of shape to show carrier