Showing posts with label chromosome. Show all posts
Showing posts with label chromosome. Show all posts

Friday, 11 May 2012

Genetic associations of some carcinomas



GeneDisease
Trk A geneNeuroblastoma (good prognosis)
RET proto oncogeneMedullary carcinoma thyroid
Rb gene (13q14)Retinoblastoma
BRCA1Ca breast (females)Ca ovary
APC geneFamilial adenomatous polyposis coli
Chromosome 3Renal cell carcinoma
Trisomy 17, 7, 16, loss of yPapillary renal carcinoma
11p13 WT-1Wilm's tumor
Xp21Duchenne muscular dystrophy
APP geneAlzheimer's disease



Saturday, 28 April 2012

Chromosome & Disease


  • Chromosome 1...Rh system / neuroblastoma

  • Chromosome 2...cystinuria/hypobetalipoproteinemia

  • Chromosome 3...RCC/ALKAPTONURIA

  • Chromosome 4...huntingtons chorea/achondroplasia/parkinsons disease

  • chromosome 5..FAP/colorectal ca/cri du chat syndrome

  • chromosome 6...HLA system /MHA antigen/DM

  • chromosome 7...Cystic fibrosis

  • chromosome 8...osteoporosis

  • chromosome 9...ABO blood group / friedreich's ataxia

  • chromosome 10..Apert syndrome Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 1 Charcot-Marie-Tooth disease, type 4 Cockayne syndrome congenital erythropoietic porphyria Cowden syndrome Crouzon syndrome Hirschprung disease multiple endocrine neoplasia type 2 Pfeiffer syndrome porphyri Usher syndrome Usher syndrome type I Wolman syndrome

  • chromosome 11..sickle cell anaemia/beta thallasemia/wilms tumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH gene

  • chromosome 12...PKU/vWF/CA testes

  • chromosome 13..retinoblastoma/osteosarcoma/wilsons ds

  • chromosome 14..familial HOCM/ alpha 1 antitripsin deficiency

  • chromosome 15..marfan's syndrome/albinism/pradder willi syndrome/angelman syndrome

  • chromosome 16..alpha thallasemia/adult PKD

  • chromosome 17..ca breast/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 gene

  • chromosome 18..erythropoietic protoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)

  • chromosome 19..myotonia dystrophica/gene for insulin receptor

  • chromosome 20..MODY type 1 DM/prions disease

  • chromosome 21..homocystinuria/amyloidosis...folic acid transport..

  • chromosome 22..meningioma/acoustic neuroma/NF -2/Di-George syndrome

  • chromosome Xq..gene for androgen insensitivity syndrome/ fragile X syndrome/ Testicular feminisation/ X-SCID/ X linked agaamaglobulinemia/ Fabry ds/ Lesch- Nyhan/ Hemophilia B/ Hemophilia A/ Hunter syndrome/ G6PD deficiency

  • chromosome Xp - Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome