Study of RET proto-oncogene mutations in two pedigrees affected with multiple endocrine neoplasia type 2A / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the pattern of RET proto-oncogene mutations in two pedigrees affected with multiple endocrine neoplasia type 2A (MEN2A).</p><p><b>METHODS</b>Peripheral blood samples were collected from members of the two pedigrees, with total genomic DNA extracted for polymerase chain reaction (PCR). PCR products of 7 exons of the RET proto-oncogene (including exons 8, 10, 11, 13, 14, 15, 16) which have higher mutation rates were purified and subjected to direct sequencing. Suspected mutations in the 2 probands were verified in other members of the pedigrees. To exclude other mutations, PCR products of remaining 14 exons were sequenced in the proband from pedigree 1.</p><p><b>RESULTS</b>A novel heterozygous mutation, 1893-1895delCGA, was detected in exon 11 of the RET proto-oncogene among 3 patients and 2 unaffected members from pedigree 1, while a heterozygous mutation, Cys634Arg, was detected in exon 11 among 2 patients and 1 unaffected family member from pedigree 2.</p><p><b>CONCLUSION</b>The heterozygous 1893-1895delCGA and Cys634Arg mutations of the RET proto-oncogene probably underlie the disease in the two pedigrees. Above discovery has enriched the human gene mutation database.</p>