Idiopathic
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Please help me put together a list of important chromosomes...I will start
1 - Gaucher's, Alzheimer's,
2 -
3 - VHL,
4 - Huntingtin,
5 - APC, cri-du-chat,
6 - Hemochromatosis
7 - CF
8 - C-myc,
9 - Friedrich's ataxia, abl, tuberous sclerosis,
10 -
11 - Wilm's, MEN 1, B-globin, Niemann Pick
12 - PKU, K-ras,
13 - RB, Patau's, BRCA2, Wilson's,
14 - Heavy Chain JH
15 - Tay-Sachs, Marfan's, Angelman/Prader-Willi
16 - APKD-1,
17 - p53, NF-1, BRCA1, Retinoic acid receptor,
18 - Edward's, bcl-2
19 - Myotonic dystrophy
20 - SCID,
21 - Down's, ALS,
22 - DiGeorge, bcr (Philadelphia), NF-2
23 -
X - Fragile X, G6PD, HGPRT, Hemophilia, Duchenne's,
Specifically, I am having trouble finding: ras, NF-1 (von recklinghausens), and others.
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| mjl1717
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Buddy- do you want the chromosome #s or more diseases with chromosome #s?
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| Idiopathic
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Anything you see that is noticeably absent would be great 
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| mash
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isnt b globin --ch 11?
neimann picks --ch 11
hemochromatosis--ch6(HFE)
SCID 50%X linked(gamma chain of IL2 receptor)
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| mjl1717
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Gaucher-1q
Alzheimer-21 (pt of Beta amyloid)
Alzheimer-19 (apolipoprotein gene E-increases neurotoxicity of above)
Azheimer-14 (tau microtubule protein -in neurofibrillary tangle)
VHL-3p
Hungtinton-4p
Cri du chat-5
CF- middle of long arm 7
APC-5 (adenomatous polyposis coli,colonCA)
Fredericks atxia-9q
trying to go in order I couldnt find B-globulin.
ps: Mash is like Harrison's on wheels
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| Idiopathic
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"mash" wrote:
isnt b globin --ch 11?
neimann picks --ch 11
hemochromatosis--ch6(HFE)
SCID 50%X linked(gamma chain of IL2 receptor)
Correct about B-globin...sickle cell is the 6th position, that is what got me. ALso, Niemann Pick A and B (most common) are on 11 also.
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| mjl1717
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**
H-ras-11-- bladder carcinoma
K-ras-12--lung /colon carcinoma
In these above 2 the animal source was a rat,but this is the Human chromosome with homologous proto-Oncogene/Oncogene
N-ras-1--Neuroblastoma /leukemia
NF-1--17q
Hemochromotosis-6p
Sickle cell anemia-11short--direct detection[Linius Pauling/first to call it a
molecular disease]{Nobel chemist}
For SC the mutation is at the 6th amino acid of the Beta chain valine takes place of glutamic acid thus altering the charge.
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| mani
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idiopathic it would be great if u collect all the postings at one place and prepare a final list
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| mjl1717
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Excuse me At first I thought that # was the sequence-anyway.
disease/chromosome #
Pyruvate kinase 1 deficiency-1q
Waardenburg syndrome-2q
Dissacharide intolerance I-3q
Dentinogenesis imperfecta-4q
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| bluestar
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I'll sort out all the cancer suppressor gene I know here:
DPC 18q
BRCA-1 17q
NF-1 17q
NF-2 22q
p53 17q
WT-1 11q
Rb 13q
APC 5q
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