MEN1 935-1G>C splicing mutation in an Indian patient with multiple endocrine neoplasia type 1
MEN1 935-1G>C splicing mutation in an Indian patient with multiple endocrine neoplasia type 1
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DOI：
10.1007/bf03256233
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发表时间：
2007-01-01
影响因子：
4
通讯作者：
Ashavaid, Tester F.
中科院分区：
文献类型：
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作者：
Raghavan, Rani;Shah, Sudeep;Ashavaid, Tester F.
背景和目的：多发性内分泌瘤1型（MEN 1）是一种常染色体显性遗传综合征，主要表现为累及甲状旁腺、胰腺和垂体的多发性肿瘤。到目前为止，还没有关于印度人群中MEN 1的遗传研究报告。为了开始建立分子诊断，以提高管理MEN 1在印度，我们进行了MEN 1基因的分子分析，在印度origin.Methods的患者：MEN 1基因的分子分析，以确定突变的印度患者先前诊断为散发MEN 1。结果：测序结果显示MEN 1基因第5内含子存在一个内含子的杂合剪接突变935-1 G > C。结论：本研究首次提供了印度MEN 1基因分析的数据。
Background and Objective: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant syndrome characterized mainly by multiple tumors involving parathyroid, pancreatic, and pituitary glands. To date, there have been no genetic studies reported on MEN1 in the Indian population. In order to begin to establish molecular diagnosis to improve the management of MEN1 in India, we performed a molecular analysis of the MEN1 gene in a patient of Indian origin.Methods: Molecular analysis of the MEN1 gene was performed to identify mutations in an Indian patient previously diagnosed with sporadic MEN1. All the 10 exons of the MEN1 gene were amplified using the polymerase chain reaction and screened by direct DNA sequencing.Results: The DNA sequencing results revealed the presence of an intronic, heterozygous, splicing mutation 935-1 G > C in intron 5 of the MEN1 gene.Conclusion: This study provides the first data on genetic analysis of MEN1 in Indian patients.