G2Cdb::Allele report

Mutation type
D

Altered genes (1)

Gene Symbol Species Description
G00002137 SRC Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)

Diseases (1)

Disease Description Nervous effect
D00000100 Myeloid leukaemia N

Literature (1)

Pubmed - human_disease

  • Molecular genetics of myeloid leukemia: identification of the commonly deleted segment of chromosome 20.

    Roulston D, Espinosa R, Stoffel M, Bell GI and Le Beau MM

    Department of Medicine, University of Chicago Cancer Research Center, IL.

    A deletion of the long arm of chromosome 20 [del(20q)] is a recurring abnormality in malignant myeloid disorders. The occurrence of the del(20q) in a broad spectrum of myeloid disorders suggests that the loss of genetic material on 20q could provide a proliferative advantage to myeloid cells, possibly through the loss of a tumor-suppressor gene. We have examined a series of patients with the del(20q) using fluorescence in situ hybridization (FISH) with unique sequence probes that map along the length of 20q, and have delineated a segment that is deleted in 95% of all patients examined (18 of 19). In addition, we have shown that the deletions are interstitial rather than terminal. This region of deletion extends from 20q11.2 to q12, and is flanked by the RPN2 (proximal) and D20S17 loci (distal). The SRC and ADA genes are located within the commonly deleted segment. Our findings emphasize the importance of FISH and other molecular mapping techniques in defining such a region. The delineation of a commonly deleted segment in 20q11.2-q12 will facilitate the identification of candidate tumor-suppressor genes on 20q.

    Funded by: NCI NIH HHS: CA40046

    Blood 1993;82;11;3424-9

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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