DR KUNAL MAHAJAN: CHROMOSOMES

TRY AND TRY AGAIN...UNTILL YOU SUCCEED

''it ain't about how hard you hit. It's about how hard you can get hit and keep moving forward. How much you can take and keep moving forward. That's how winning is done!''

hey friends,,,i wish you bestest of luck ahead.....work hard to achieve big in life,,,,ALL THE BEST !!!!

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HAPPY STUDYING !!!

regards

DR KUNAL MAHAJAN

mbbs(rpgmc tanda)

md med student(pgims rohtak)

Sunday, April 4, 2010

CHROMOSOMES

chromosome number-----associated disease/gene.

chromosome 1
NPHS-2 gene(podocin).
Rh antigen.

chromosome 2 .....

chromosome 3
von hipple landau syndrome.
renal cell carcinoma(clear cell type).

chromosome 4
huntington chorea.
parkinsonism.

chromosome 5
APC gene(adenomatous polyposis colon).
turcot's syndrome.
criduchat syndrome.

chromosome 6
major histocompatibility complex [on short arm]. (nov aiims08)
haemchromatosis (also on short arm).

chromosome 7
cystic fibrosis ( 7q13) ....may aiims 09
william syndrome

chromosome 8
osteopetrosis

chromosome 9
tuberous sclerosis type 1
polycyathemia vera(JAK-2 mutation)

chromosome 10
RET protooncogene

chromosome 11
wilms tumour( WAGR syndrome,,,beckwid wiedman 11p15 ,,,,,denysdrash syndrome 11p13)
sickle cell anaemia
beta thalassemia
MEN-1 gene(wermer's syndrome)
ataxia telengiectesia

chromosome 12
vWB factor deficiency
noonan's syndrome

chromosome 13
BRCA-2 gene (aiims mcq)
patau's syndrome
wilson disease
retinoblastoma ( 13q14)----allindia mcq

chromosome 14
alpha 1 antitrypsin deficiency

chromosome 15
marfan's syndrome(fibrillin gene)
bloom syndrome
gene for beta 2 microglobulin of HLA-1

chromosome 16
tuberous sclerosis-2 gene
alpha thalassemia
polycystic kidney disease

chromosome 17
NEUROFIBROMATOSIS-1 gene (mcq)
p53 on short arm ( mcq)
BRCA-1 (mcq)

chromosome 18
edward's syndrome

chromosome 19
NPHS-1( nephrin)
alpha actinin-4-deficincy FSGS
myotonic dystrophy
LDL receptor gene (mcq)

chromosome 20
PRION PROTEIN (v.important)

chromosome 21
down syndrome
folic acid transporter (aiims mcq)
alzheimer's disease
amyotrophic lateral sclerosis

chromosome 22
NEUROFIBROMATOSIS -2 gene
cat's eye syndrome(partial trisomy 22)