Article Abstract:
Germ-line mutation analysis has been carried out in patients with multiple endocrine neoplasia type 1 (MEN1) and disorders that are related. MEN1 is an autosomal dominant syndrome that involves predisposition to tumors or various parts of the endocrine system and also of diffuse neuroendocrine tissues. Families numbering 84 were screened for MEN (ital) germ-line mutations, as were isolated patients and 52 distinct mutations were found in 62 MEN1(ital) germ-line alterations. Five inframe deletions and eight missense mutations were found on the coding sequence. Other findings were also made including that there were 220 gene carriers, 53 of whom were not affected. There was no evidence of genotype-phenotype correlation. The study gives more information about diversity of MEN1(ital) germ-line mutations. It also gives new tools for genetic screening of MEN1 and cases that are clinically related.
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Article Abstract:
Research on finding a gene characterization for congenital nystagmus has not been conclusive. Although data have confirmed inheritance through autosomal dominant, autosomal recessive and X-linked modes, no candidate gene has been determined in the chromosome Xp region. Further studies are needed for complete gene characterization, which will reduce the target genetic interval.
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Article Abstract:
The gene for congenital dyserythropoietic anemia type 1 is located between D15S779 and D15S778 on chromosome 15q15.1-15.3. Eight carrier haplotypes have been identified in a cluster of 25 patients from four large consanguineous Israeli Bedouin families, with indications of a single founder haplotype. The mutation probably occurred between 400-500 years ago.
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