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云南省西双版纳州傣族G6PD缺陷症发生率及突变谱研究 被引量:9

The prevalence and mutations distribution of G6PD deficiency among Dai population in Xishuangbanna region,Yunnan province
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摘要 目的了解云南省西双版纳州傣族人群的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率及基因型。方法在2012年8月至2013年9月期间,用荧光斑点定性法对812例傣族居民进行G6PD缺乏筛查。用反向斑点杂交芯片和PCR-DNA测序法分析G6PD缺乏症的标本的基因型。结果云南西双版纳州傣族人群的G6PD缺乏症总发生率为9.73%(79/812),其中男性32例(9.07%,32/353),女性47例(10.24%,47/459)。79例初筛G6PD缺乏标本65例检测出有突变,共检出8种基因突变类型,含16例1376 G>T(24.24%)、10例1311C>T(15.15%)、9例1388 G>A(13.63%)、7例392 G>T(10.60%)、6例95 A>G(9.09%)、5例1360C>T(7.57%)、2例871 G>A(3.03%)、1例1024C>T(1.52%),和6种复合突变包括2例G871A/C1311T(3.03%)、2例G392T/G1376T(3.03%)、2例G392T/G1388A(3.03%)、1例C1024T/C1311T(1.52%)、1例C1311T/G1376T(1.52%)、1例C1311T/G1388(1.52%)。结论云南西双版纳州傣族G6PD缺乏症检出率高,最常见的三种基因型是G6PD1376 G>T、1311C>T和G6PD1388 G>A。在西双版纳地区当地开展G6PD缺乏症的新生儿筛查、产前筛查和遗传咨询是非常有必要的。 Objective To investigate the prevalence and mutation distribution of Glucose-6- phosphate dehydrogenase (G6PD) deficiency among Dai population in Xishuangbanna region, Yunnan province. Methods From Aug 2012 to Sep 2013, 812 Dai subjects were screened for G6PD deficiency by fluorescent spot test (FST). Then, all the screening positive samples were identified by reverse dot blot (RDB) chip and PCR-DNA sequencing. Results The prevalence of G6PD deficiency was 9.73% (791812) among Dai population, of which 9.07% (321353) in males and 10.24% (471459) in females. Totally, 65 of the 79 screening positive samples were detected with coding mutations in G6PD gene that encompassing 8 kind of mutation types included 16 cases of 1376 G 〉 T (24.24%), 10 cases of 1311C 〉 T (15.15%), 9 cases of 1388 G〉A(13.63%), 7 cases of 392 G〉T(10.60%), 6 cases of 95 A〉G(9.09%), 5 cases of 1360 C〉T(7.57%), 2 cases of 871 G〉A(3.03%) and 1 cases of 1024 C〉T(1.52%). At the same time, 6 kind of compound mutation are observed in our study cohort including 2 cases of G871A/C1311T (3.03%), 2 cases of G392T/G1376T (3.03%), 2 cases of G392T/G1388A (3.03%), 1 cases of C1024T/C1311T (1.52%), 1 cases of C1311T/G1376T (1.52%) and 1 cases of C1311T/G1388 (1.52%). Conclusion The prevalence of G6PD deficiency was high among Dai population. G6PD 1376 G 〉 T. 1311C 〉 T and G6PD1388 G 〉 A were the 3 most common mutations in this region. Obligatory newborn screening program, prenatal screening and counseling for G6PD deficiency were important and necessary in Xishuangbannan region.
出处 《分子诊断与治疗杂志》 2015年第2期83-86,共4页 Journal of Molecular Diagnostics and Therapy
基金 国家自然科学基金(81101329) 中国博士后科研基金(2013M542195) 广东省医学科研基金(A2013780)
关键词 G6PD缺乏症 傣族 基因突变 斑点杂交 PCR—DNA测序 Glucose-6-phosphate dehydrogenase (G6PD) deficiency Dai population mutation Reverse dot blot (RDB) PCR-DNA sequencing
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