摘要
目的 了解贵州省江口县土家族葡萄糖-6-磷酸脱氢酶（G6PD）缺陷症的基因频率、基因突变类型特点及分布特征，从分子水平揭示G6PD基因多态性。方法 采集世居当地土家族男性血液样本227例，用四氮唑蓝（NBT）纸片定性法及G6PD／6PGD比值法做G6PD缺陷症筛查。确诊者用错配引物介导的聚合酶链反应／限制性内切酶酶切分析法（PCR-RE）进行中国人常见9种G6PD基因突变型分析，突变特异性扩增系统法（ARMS）验证其中3种突变。结果227名土家族男性中检出17例G6PD缺陷者，总检出率7．49％，G6PD缺陷症基因频率0．0749。基因分析检出cDNA1388（G→A）12例，在G6PD缺陷者中的基因频率为0．706，未知突变5例，基因频率为0．294。结论 G6PD缺陷症在贵州土家族人群有着较高的基因频率，其主要突变类型为G6PD基因cDNA1388（G→A）。
Objective To analyze the glucose-6-phosphate dehydrogenase （G6PD） genic frequency and gene mutations of Tujia ethnic in Jiangkou, Guizhou. Methods Nitro blue tetrazolium（NBT） qualitative and G6PD/6PGD quantitative methods were used to detect G6PD deficiency in 227 Tujia males from people in Jiangkou, Guizhou. By using mis-matched primers mediated polymerase chain reaction（ PCR）/restriction analysis, the G6PD deficient individuals were screened for the 9 known mutations in Chinese. Results Among the 227 males samples, 17 G6PD deficiency samples were found. The genic frequency of G6PD deficiency was 0.0749. One mutations were discovered, the genic frequency of cDNA 1388（G→A） was 0.706. Conclusions G6PD deficiency is very heterogenous in Tujia ethnic in Jiangkou, Guizhou, with cDNA 1388（G→A） being the most frequwnt seen mutation in the area.
出处
《中国地方病学杂志》
CAS
CSCD
北大核心
2007年第4期415-417,共3页
Chinese Jouranl of Endemiology
基金
贵州省科技厅计划攻关项目（19991201）
贵州省优秀科技教育人才省长专项基金（2001003）
贵州省科技厅重点项目（20023015）
关键词
葡萄糖脱氢酶类
基因
突变
Glucose dehydrogenases
Genes
Mutation
