Goljan 5 Genetics Flashcards
Missense mutation
sickle cellvaline replaces glutamic acid
beta thal major
nonsense mutation with stop codon
frameshift mutation
tay-sachs
anticipation
additional trinucleotide repeats increase disease severity in future generations
PKU
increased phenylaninedecreased tyrosine
von gierke’s
glycogen storage disease - glucose 6 phosphatase deficiency (gluconeogenic enzyme); fasting hypoglycemia, hepatorenalmegally
most common AR disorder
hemochromatosis (absorb too much iron)
most common AD disease
von willebrand (excessive bleeding)
reduced penetrance
individual with mutant gene does not express trait but passes it on
most common x linked
fragile x
number of barr bodies
x chromosome minus 1
nondisjunction
unequal seperation of chromosomes in meiosis
mosaicism
nondisjunction in mitosis
cru di chat
deletion of short arm chromosome 5retardation, cat like cry, VSD
down syndrome
most cases due to nondisjunctionmost common genetic cause of retardationadvanced maternal agedoudenal atresia, hirschprungsAD at young age
Edwards
trisomy 18 retardation, chenched hands, VSD
survival past neonatal period uncommon
defects of lungs, kidneys, heart, diaphragm
pataus
trisomy 13 retardation, cleft lip/palate, polydactyly, VSD, cystic kidneys
more neuro issues than edwards and down syndrome
survival past neonatal period uncommon
Most common cause of primary amenorrhea
turners
Klinefelters
decreased testosterone and inhibin - increased LH and FSH
XXY
XYY
paternal nondysjunction, aggressive behavior, can be taller
clinical phenotype basically normal
prader willi
microdeletion on paternal chromosome 15 - genes on maternal chromosome turned off
overeating, obesity, behavioral problems, some mental impairment, small genitals
angelman
microdeletion on maternal chromosome 15
developmental disabilities and neurological problems, happy personalities
malformation
disturbance in morphogenesis in embryonic periodopen neural tube, cleft lip/palate
usually permanent, early in pregnancy
deformation
extrinsic disturbance in fetal development
oligohydramnios causing potters facies, club feet
usually temporary, late in pregnancy
congenital anomalies
genetic + environmental factors
maternal diabetes
macrosomia (increased birth weight) - hyperinsulinemia increases muscle mass and fat
alcohol
most common fetal teratogen
cytomegalovirus
most common pathogen causing congenital infection
retinoic acid in preg
Vitamin A - disrupts HOX gene fxn (craniofacial, CNS, Cardiovascular defects)
Stillbirth
most often caused by abruptio placentae (premature separation of the placenta from the uterus)
spontaneous abortion
frequently caused by trisomy 16
large for gestational age
maternal diabetes
prematurity
most common cause of neonatal death/morbidity
interuterine growth restriction
maternal factors often responsible for small infants - often oligohydramnios (too little amniotic fluid)
open neural tube defect
folate deficiency prior to conception, increased alpha feto protein (AFP)
triple marker for downs
decreased AFT and urine estriol, increased hCG
age dependent changes
invariant with age, decreased gfr, prostate hyperplasia
age related changes
common but not inevitable AD, systolic hypertension
