广东客家人G6PD基因突变型研究

Identification of G6PD gene variants from Hakka population in Guangdong province

目的 研究广东客家人葡萄糖 - 6 -磷酸脱氢酶缺乏症 (glucose- 6 - phosphate dehydrogenase,G6 PD)遗传多样性。方法 应用突变特异性扩增系统法 ,聚合酶链反应 -单链构象多态性并结合 DNA测序技术 ,确定客家人 G6 PD基因突变型的类型及频率。结果 在客家人中发现 G6 PD c DNA1388(G→ A)、1376 (G→ T)、95 (A→ G)、392 (G→ T)、10 2 4 (C→ T)及 1311(C→ T)复合 11内含子 93位 (T→ C)的突变。结论 G6 PD基因 c DNA1388(G→A)、1376 (G→T)、95 (A→ G)、392 (G→ T)、10 2 4 (C→ T)、1311(C→T)复合 11内含子 93位 (T→C)突变是共同存在于中国人群中的 G6 PD基因突变型。c DNA1388(G→A)、c DNA 1376 (G→ T)是客家人群中最常见的 G6 PD基因突变型。在广东客家人群中未发现新的 G6 PD基因突变型。

Objective Studying on G6PD polymorphism from Hakka population in Guangdong province. Methods Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies. Results Mutations of G6PD gene in cDNA 1388(G→A), 1376(G→T),95(A→ G),392(G→T),1024 (C→T),1311(C→T) have been found. Conclusion G6PD cDNA 1388(G→A),1376(G→T),95(A→ G),392(G→T),1024 (C→T) and 1311(C→T) accompanied with intron 11 (93 T→C) are the common mutations in Chinese population. cDNA 1388(G→A),cDNA 1376(G→T) are the most popular G6PD gene variants in Hakka population. In this study, no new type of G6PD gene mutation was found in the Hakkas of Guangdong.