昆明地区孕妇夫妇及新生儿6种常见葡萄糖-6-磷酸脱氢酶基因突变类型分析

The Analysis of Six Common Glucose-6-Phosphate Dehydrogenase Gene Point Mutations in Pregnant Women, Husbands and Neonates in Kunming Region

初步计算昆明地区孕妇夫妇及新生儿葡萄糖 - 6 -磷酸脱氢酶基因六种基因突变类型 (G1376T ,G1388A ,A95G ,C10 2 4T ,C5 92T及G392T突变 )的频率 .应用突变特异性扩增系统 (ARMS)法筛查昆明地区孕妇夫妇及新生儿 49例葡萄糖 - 6 -磷酸脱氢酶 (G6PD)基因的G1376T ,G1388A及A95G突变 ;未定型者应用错配引物介导的PCR/限制性酶切分析法筛查C10 2 4T ,C5 92T及G392T突变 .所选病例经G6PD/6PGD比值法确证 .结果 :49例患者 (男性 2 0例 ,女性 2 9例 )中 ,检出G1376T 10例 ,占 2 0 41% ,G1388A 18例 ,占 36 73% ,A95G 2例 ,占 4 0 8% ,未检出C10 2 4T ,C5 92T ,G392T突变 ,剩余 19例为未定型者 .结果表明 :ARMS法为一种快速、经济、准确的检测G6PD基因突变的方法 ,ARMS法与错配引物介导的PCR/限制性酶切分析法相结合 。

Glucose-6-phosphate dehydrogenase(G6PD) is the most common human enzymopathy. To date, more than 122 mutations in the G6PD gene have been discovered, among which 12 point mutations were found in Chinese. The purpose of this study was to identify 6 common G6PD gene point mutations: G1376T,G1388A, A95G, C1024T, C592T, G392T and to estimate the approximate frequencies. Using amplication refractory mutation systems(ARMS)to detect G1376T, G1388A, A95G mutations and using mismatched amplication/restriction enzyme digestion method to detect C1024T, C592T, G392 mutations. 49 cases of G6PD deficient pregnancy women, husbands and neonates were examined, 18 of them were identified to be G1388A (36.73%), 10 G1376T(20.41%) and 2 A95G(4.02%).Totally 30 out of the 49 cases were of the common mutations (G1376T, G1388A, A95G). ARMS method was a simple, inexpensive and accurate method for detecting the common mutations. The mismatched amplication/retriction enzyme digestion method was used as a standard method to evaluate the nature of point mutations.