test2 Flashcards
(37 cards)
metacentric chromosome position
in the middle
Submetacentric chromosome
off center
Acrocentric
Near one end
Telocentric
is at one end
what is pleitrophy
a single gene with multiple phenotype effects
what is marfan syndrome
- is autosomal dominant
- encodes connective tissue fibrillin
- causes aneurisms, eye defects, weak bones
what are the effects of Porphyria Variegata
-red urine, delirium, abdominal pain
Amorph
null mutation(loss of function)
Hypomorph
reduced expression of gene product(partial loss)
Hypermorph
Increased expression of gene function
Neomorph
New function of mutant protein
Antimorph
New activity that effects wild type function
Overview of meiosis (what happens)
chromosomes duplicate once, nuclei divide twice (2N->n)
What happens in Prophase 1
Crossing over occurs
what happens in prophase 1- leptotene
chromosomes thicken
what happens in prophase 1- zygotene
homologous chromosomes enter synapsis
synaptoneal complex forms
what happens in prophase 1- pachytene
synapsis is complete
crossing over occurs
whats happen in prophase 1- diplotene
synaptic complex dissolves
tetrad of 4 chromosomes is visable
what happens in prophase 1- diakinesis
chromatids thicken and shorten
what happens in metaphase 1
tetrads line along middle
what happens in telophase 1
Nuclear envelope reforms (2 sis chromatids)
swyer syndrome
2n=46, XY
don’t develop female secondary characteristics
Androgen Insensitivety syndrome
2n=46yy
lack of androgen receptors
klinefelter syndrome
47, XXY
genatilia and internal male
result of nondisjunction event