revisions Flashcards
(36 cards)
sickle cell anaemia
autosomal recessive
cystic fibrosis
autosomal recessive
achondroplasia
autosomal dominant
huntington’s disease
autosomal dominant
duchenne muscular dystrophy
sex linked
haemophilia
sex linked
down syndrome
trisomy 21 numerical abnormality arising from non-disjunction
patau syndrome
trisomy chromosome 13
Edward’s syndrome
trisomy 18
turner syndrome
45 x - female phenotype but infertile
klinefelter syndrome
male phenotype 17 XXY
what are the methods for DNA detection
PCR electrophoresis RFLP analysis ARMS DNA sequencing
what is the PCR technique
denature (94c), anneal(50-70c), extend(70-75c), repeat
HNPCC - hereditary nonpolyposis colorectal cancer is
autosomal dominant condition triggered from the failure of mismatch repair genes resulting in microsatellite DNA instability
consanguinity means
marriage between close blood relatives
what are the results of imprinting disorders?
angelman syndrome
prader willi syndrome
uniparental diploidy can result in
gyogenic (maternal) ovarian teratoma
androgenic (paternal)
mass of placenta yielding a hydatidiform mole
hypogammaglobulinaemia
require the infusion of
IVIg gamma globulins
an MRI contrast agent is
gadolinium DTPA
ideal radionuclide
99m technecium
x ray is between
0.1 and 10 nanometres
T cells produce what molecule to effect viruses
interferons
warthin ffinkeldy type giant cell
associated with measles
langhans giant cell
TB
