葡萄糖—6—磷酸脱氢酶基因突变与NlaⅢ多态性位点连锁关系 …

目的 研究葡萄糖－６－磷酸脱氢酶（Ｇ６ＰＤ）基因内的特定多态性位点与Ｇ６ＰＤ缺陷基因突变的连锁关系，进一步揭示Ｇ６ＰＤ缺陷症分子病理学本质及Ｇ６ＰＤ基因斩多态性位点在人类学和人类迁移研究中的意义。方法 应用变性梯度凝胶电泳和ＤＮＡ点杂交技术检测５４例Ｇ６ＰＤ活性正常男性对照者及６６例男笥Ｇ６ＰＤ缺陷者Ｇ６ＰＤ基因中距离１２外显子上游１３ｂｐ的ＮｌａⅢ多态性位点。

Linkage analysis of the G6PD gene mutations and its Nla III polymorphic site]

OBJECTIVE: To investigate the molecular and anthropologic features of glucose-6-phosphate dehydrogenase (G6PD) deficiency and the linkage between the Nla III polymorphic site within G6PD gene and three common Chinese G6PD mutations. METHODS: By using denatured gradient gel electrophoresis (DGGE) and allele specific oligonucleotide (ASO) probe dot blot hybridization, Nla III polymorphic site at minus sign13 bp upstream exon 12 within G6PD gene were screened in 54 males with normal G6PD activity and 66 G6PD deficient males. RESULTS: Thirty-two cases with cDNA1376 (G-->T), 21 with cDNA1388 (G-->A) and 13 with cDNA95 (A-->G) were detected in the 66 G6PD deficient males. Among 54 normal controls, T at -13 bp upstream exon 12 within G6PD gene were detected in 11 cases (20.4%, without Nla III polymorphic sites) while C in 43 cases (79.6%, with Nla III polymorphic sites). All 66 G6PD deficient males were linked with C at -13 bp upstream exon 12 (with Nla III polymorphic sites). CONCLUSION: The G6PD mutations cDNA1376 (G-->T), cDNA1388 (G-->A) and cDNA95 (A-->G) were linked with Nla III polymorphism. This feature will play a role in studying the complicated manifestations and anthropology of G6PD deficiency.