[海南省71例葡萄糖-6-磷酸脱氢酶缺乏症的分子特征分析]

[Molecular characterization of 71 cases of glucose-6-phosphate dehydrogenase deficiency in Hainan province].

作者信息

Huang Dong-Ai, Wang Xiao-Ying, Wang Zheng, Zhou Dai-Feng, Cai Wang-Wei

机构信息

Department of Biochemistry, Hainan Medical College, Haikou 571101, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2007 Apr;28(4):250-4.

PMID:17877203

Abstract

OBJECTIVE

To molecularly analyze in Han and Li individuals of glucose-6-phosphate dehydrogenase deficiency in Hainan, China.

METHODS

The amplification refractory mutation system (ARMS) was employed to detect G1376T, G1388A and A95G mutations. The coding regions and flanking intronic regions from the second to the thirteenth exons of G6PD gene was analyzed by DNA sequencing to characterize the gene mutations in samples without G1376T, G1388A and A95G mutations.

RESULTS

Among 29 Han cases of G6PD deficiency, 11 had G1376T (37.9%), 2 G1388A (6.9%), 1 G1376T and G1388A (3.4%) and 1 G1376T and A95G (3.4%) were identified. Mutations of G1376T, G1388A, A95G and their complex accounted for 51.7% of G6PD deficiency in the Han individuals. Among 42 Li cases of G6PD deficiency, 25 had G1376T (59.5%), 6 G1388A (14.3%), 2 A95G (4.8%), 4 G1376T and G1388A (9.5%), 1 G1376T and A95G (2.4% )were identified. These mutations accounted for 90.5% of the Li individuals. Gene mutation of 18 cases (14 Han and 4 Li individuals) remained unknown. Sequencing results of the 18 samples indicated that one case had a single base of T deletion at nucleotide 636 or 637 in the 5th intron (IVS-5 636 or 637 T del) and two cases had C1311T with IVS-11 T93C mutation.

CONCLUSION

G6PD G1376T and G1388A are the most common mutations in the populations of the Han and Li nationalities in Hainan. The IVS-5 636 or 637 T del mutation is first reported in Chinese, and the complex mutation of G1376T/A95G is first found in the Li nationality.

摘要

目的

对中国海南汉族和黎族葡萄糖-6-磷酸脱氢酶缺乏症患者进行分子分析。

方法

采用扩增阻滞突变系统（ARMS）检测G1376T、G1388A和A95G突变。对G6PD基因第2至13外显子的编码区及侧翼内含子区进行DNA测序，以鉴定未检测到G1376T、G1388A和A95G突变的样本中的基因突变。

结果

在29例汉族葡萄糖-6-磷酸脱氢酶缺乏症患者中，检测到11例G1376T突变（37.9%），2例G1388A突变（6.9%），1例同时存在G1376T和G1388A突变（3.4%），1例同时存在G1376T和A95G突变（3.4%）。G1376T、G1388A、A95G及其复合突变占汉族葡萄糖-6-磷酸脱氢酶缺乏症患者的51.7%。在42例黎族葡萄糖-6-磷酸脱氢酶缺乏症患者中，检测到25例G1376T突变（59.5%），6例G1388A突变（14.3%），2例A9G突变（4.8%），4例同时存在G1376T和G1388A突变（9.5%），1例同时存在G1376T和A95G突变（2.4%）。这些突变占黎族患者的90.5%。18例患者（14例汉族和4例黎族）的基因突变情况未知。对这18个样本的测序结果显示，1例患者第5内含子（IVS-5）第636或637位核苷酸处发生单个碱基T缺失（IVS-5 636或637 T del），2例患者存在C1311T伴IVS-11 T93C突变。