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Study of two heterozygous mutations of glucokinase(GCK) gene in two MODY2 Chinese pedigrees
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DIABETES
- Issue:
- 6
- DOI:
- 10.3969/j.issn.1006-6187.2010.06.003
- Key Word:
- 基因,葡萄糖激酶;青少年发病的成年型糖尿病;c.661G》A(E221K);c.771G》A(W257ter)
Abstract： 目的 寻找两个典型的MODY2家系的责任基因. 方法 抽提两个MODY2家系成员基因组DNA,PCR扩增、直接测序候选基因葡萄糖激酶(GCK)基因5′端、3′端非翻译区及1～10号外显子,确认突变. 结果 家系1中4人携带GCK基因杂合突变c.661G>A(E221K),先证者为MODY2,另2名突变携带者表现为糖调节受损(IGR),1名突变携带者血糖正常.家系2中2人携带GCK基因杂合突变c.771G>A(W257ter),先证者为MODY2,另1名突变携带者表现为IGR.在这些患者中,饮食控制和增强运动能收到良好效果. 结论 GCK基因突变c.661G>A(E221K)和c.771G>A(W257ter)可能是两个MODY2家系的主要致病基因,其中c.771G>A(W257ter)是一个新发现的突变位点.
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