genetics Flashcards
autosomal dominant is when _____ parent is infected
one parent is infected
no skipping and 50 % chance children will inherit
what is autosomal dominant disease
huntingtons
marfans
Autosomal recessive is when
2 parents are infected or 2 parents carry the illness
50 % chance off spring will cary
25% chance of infection
25% chance carriers
autosomal recessiv diseases
sickle cell
CF
hemophilia
albanism
x linked dominant disease
heterozygous - 50% chance mothers have it
affected fathers will 100% affect daughters
x linked dominant illness
alport
retts
fragile x
x linked recessive
mothers infected will affect 100%
no male to male transmission
x linked recessive diseases are
MD
C6PD
Hunter
homozygous means
the same
heterozygous means
different
phenotype
observable traits of on organism can be influenced by environmental , nutrition, temps, stress
genotype
something we inherit from genes - eye colors, hair color
specific gene given to us
Down syndrome is an disease due to
Trisomy 21 (aneulopody)
XXX
extra chromosome
what are the s/s of downs syndrome
single crease in palm of hand known as Simeon crease slanted eyes heart defects leukemia alzheimers
what is the testing for down syndrome
amniocentesis
karotype
_____ percent of downs syndrome is non-disjunctions
95%
Klinefleter syndrome is a chromosomal disorder of
xxY - males with extra chromosome
what are the characteristics of klinefleter syndrome
male and female characteristics
gynecomastia
infertility
small testicular size
testing for klineflter syndrome is
chromosomal
what is the treatment for kleinfelter
testosterone replacement
Turner syndrome is a
45X chromosomal disease
only in females
can be determined in infancy
what are the s/s of Turner syndrome
webbed neck no breasts widely shaped nipples look like kids infertility
treatment for turners
hormonal therapy
estrogen
Huntingtons disease is an autosomal _______ disease
dominant
