摘要
目的 确定 2 3例云南籍 G6 PD缺乏症病例的基因突变类型 ,了解 G6 PD基因突变的分子遗传特性。方法 运用扩增阻滞突变系统、自然及错配引物 PCR/限制性酶切、PCR-单链构象多态分析及 DNA自动测序技术 ,检测分析了 2 3例云南 G6 PD缺乏症病例第 2～ 12共 11个 G6 PD基因外显子和部分内含子的基因突变。结果 2 3例中共发现 5种突变 ,形成了 5种突变基因型 :G487A10例 (7例汉族、3例傣族 )、IVS- 11T39C复合 C1311T7例、IVS- 5 6 36或 6 37T→del4例、G871A1例、G487A/ T93C/ C1311T1例。云南人群中存在 93C/ 1311T、487A/ 93C/ 1311T两种单体型。IVS- 11T93C突变产生的多态性 Nla 酶切位点与 1311T呈现紧密关联。首次报道了 IVS- 5 6 36或 6 37T→ del在中国人群中、G871A在中国大陆地区以及G487A在云南汉族的存在。结论 云南省 G6 PD缺乏症具有明显的异质性 ;G487A突变是该地区的常见G6 PD基因突变 ,并可能有不同的起源 ;IVS- 11T93C突变可能起源于非洲以外地区 ,并与 C1311T共同作用而导致 G6 PD活性降低。 G6 PD基因突变型研究对疾病防治。
Objective: 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. Methods: 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. Results: 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&rarrdel 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&rarrdel in Chinese, on G871A in mainland of China, and on G487A in the Han people of Yunnan have not been reported previously. Conclusion: 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.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2001年第4期259-263,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金重大项目 (3999342 0 )
美国中华医学基金会 (CMB)项目 (98- 675)&&
