Site-specific hereditary nonpolyposis colorectal cancer (HNPCC) which develops almost exclusively in males in a large SA kindred is linked to the hMLH1 gene on chromosome 3
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133560
- and others
The diagnosis of HNPCC was made in 16 individuals over three generations in a large kindred from the northwestern region of South Africa, on the basis of clinical, surgical and pathological data and hospital or family records; all affecteds were males. We have excluded potential candidate genes and regions on chromosomes 1, 5, 6, 8, 9, 17 and 22 by linkage analysis. Following reports of two genes underlying HNPCC, namely hMSH2 and hMLH1, on chromsomes 2 and 3 respectively, we have shown that the disorder in the SA HNPCC family cosegregates with a specific hMLH1 gene-associated haplotype on chromosome 3. Interestingly, at least one female asymptomatic carrier of the disease-associated haplotype, who is more than 70 years of age, has been identified. Four asymptomatic males who are carriers of the disease-associated haplotype have been identified, but they are all below 40 years of age. Two notable features of the disorder in this family include the extreme sex bias and lack of non-colonic malignancies which might be expected in HNPCC. We are currently investigating the hMLH1 gene for mutations which might explain the unusual phenotype of the disease in this kindred, and looking for an explanation for the apparent sex based difference in the segregation of the disorder.
- OSTI ID:
- 133560
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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