chromosomes relation to disease |short notes

chromosomes realation to disease
chromosomes relation to disease should be known for the exam point of view. Here are some of the notes to be remember ..
chromosomes relation to 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 carcinoma/cri-du-chat syndrome
Chromosome 6: HLA system(short arm) /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/wilmstumour/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/pradderwilli syndrome/angelman syndrome
Chromosome 16: Alpha thallasemia/adult PKD
chromosome 17: Carninoma breast(BRCA1)/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 gene
Chromosome 18: Erythropoieticprotoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)
Chromosome 19: Myotoniadystrophica/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
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

Leave a Reply

Your email address will not be published. Required fields are marked *