Yang Z, Chu J, Ban G, Huang X, Xu S, Li M
Institute of Medical Biology, Chinese Academy of Medical Sciences, Kunming,Yunnan 650118 P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Aug;18(4):259-63.
To identify glucose-6-phosphate dehydrogenase (G6PD) gene mutations in 23 patients with G6PD deficiency and to gain further understanding of the molecular and genetic background of G6PD gene in Yunnan province, China.
The mutations located in exons 2-12 and in parts of introns of G6PD gene were analyzed by amplification refractory mutation system(ARMS), natural and mis-match primer PCR/restrict enzyme, polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP ) analysis and automatic DNA sequencing.
Among these 23 samples, 5 different point mutations in G6PD gene were identified, and they constituted 5 genotypes. There were 7 Han and 3 Dai patients with G487A mutation, 7 cases with both intron 11 T93C and C1311T mutations, 4 cases with intron 5 636 or 637 T-->del mutation, 1 case with G871A mutation, and 1 case with G487A/T93C/C1311T mutation. Two haplotypes, 93C/1311T and 93C/1311T/487A were identified in Yunnan. A strong association was observed between C1311T and the Nla III restriction site produced by intron 11 T93C. The findings of the investigators on IVS-5 636 or 637T-->del in Chinese, on G871A in mainland of China, and on G487A in the Han people of Yunnan have not been reported previously.
G6PD deficiency is very heterogenous in Yunnan; G487A is one of the common mutations in that province and may be of different origins. Possibly IVS-11 T93C mutation is of non-African origin. IVS-11 T93C and C1311T might jointly result in G6PD deficiency. The above data on G6PD gene mutation types could be useful for clinical diagnosis, prevention of G6PD deficiency, and researches in the origin and migration of minorities in Yunnan or other regions.
鉴定23例葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者的G6PD基因突变情况，进一步了解中国云南省G6PD基因的分子和遗传背景。
采用扩增阻滞突变系统（ARMS）、天然及错配引物PCR/限制性内切酶、聚合酶链反应-单链构象多态性（PCR-SSCP）分析及自动DNA测序等方法，对G6PD基因外显子2-12及部分内含子区域的突变进行分析。
在这23份样本中，共鉴定出G6PD基因的5种不同点突变，构成5种基因型。有7例汉族和3例傣族患者存在G487A突变，7例同时存在内含子第11位T93C和C1311T突变，4例存在内含子第5位636或637位T→缺失突变，1例存在G871A突变，1例存在G487A/T93C/C1311T突变。在云南鉴定出两种单倍型，即93C/1311T和93C/1311T/487A。观察到C1311T与内含子第11位T93C产生的Nla III限制性酶切位点之间存在强关联。本研究人员关于中国人IVS-5 636或637T→缺失突变、中国大陆G871A突变以及云南汉族G487A突变的研究结果此前未见报道。
G6PD缺乏症在云南具有高度异质性；G487A是该省常见突变之一，可能起源不同。IVS-11 T93C突变可能起源于非洲以外地区。IVS-11 T93C和C1311T可能共同导致G6PD缺乏症。上述G6PD基因突变类型的数据可能有助于临床诊断、G6PD缺乏症的预防以及云南或其他地区少数民族起源和迁徙的研究。
