云南省汉族中所见的一例G6PD基因nt1004C→A突变

A case of nt 1004C→A G6PD gene mutation in Yunnan Han people

目的：检测云南人群中是否存在新的葡萄糖－６－磷酸脱氢酶（Ｇ６ＰＤ）基因突变型。方法：在排除中国人中的常见突变后，作２～１２逐个外显子多聚酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）分析，对电泳异常者测序证实。结果：在筛查云南人群８２３人Ｇ６ＰＤ缺乏症时，发现Ｇ６ＰＤ缺乏者５４例。对其中２９例作了突变型鉴定，除发现１３８８Ｇ→Ａ突变１９例、１３８１Ｇ→Ａ突变１例外，其余９例中，查出１例为第９外显子ＳＳＣＰ有异常泳带。直接测序证实在第９外显子ｎｔ１００４位有Ｃ→Ａ的碱基置换，导致丙氨酸→天冬氨酸。结论：该例为罕见突变，为中国人中的第二例，云南汉族中的首例。

Objective:To search for novel G6PD gene mutation in Yunnan.Methods: After excluding common mutations among Chinese, 2￣12 exons of G6PD gene were screened by PCR SSCP, and those with an abnormal electrophoretic pattern were further sequenced. Results: During a survey of G6PD deficiency in a population of 823 individuals in Yunnan, 54 cases were found with the deficiency. The gene mutations were studied in 29 cases of them. Nineteen cases of nt 1388 G→A, and 1 of nt 1381 G→A mutations were identified. In the remaining 9 cases, an abnormal PCR SSCP pattern was found in one case. A single base substitution of nt 1004 C→A, which resulted in Ala 339 →Asp, was revealed by PCR direct sequencing. Conclusion: This mutation is the second case in Chinese, and the first case in Yunnan province.