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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 ,则结果更为可靠
The frequencies of the mutations of G1376T, G1388A, A95G, C10 2 4T, C5 92T and G392T in pregnant women and their newborns in Kunming area were calculated initially.The mutation-specific amplification system (ARMS) was used to screen G1376T, G1388A and A95G mutations of 49 cases of G6PD gene in pregnant women and their newborns in Kunming area. The untreated patients were screened by PCR / restriction enzyme The results were analyzed by G6PD / 6PGD method.Results: Among 49 patients (20 males and 29 females), 10 cases of G1376T were detected, Accounting for 36.73% in G1388A, 2 cases in A95G, accounting for 40.8%, no mutations in C10 2 4T, C5 92T and G392T were detected, and the remaining 19 cases were undetermined. The results showed that ARMS Method is a rapid, economical and accurate method to detect G6PD gene mutation. The combination of ARMS method and mismatch primer-mediated PCR / restriction analysis is more reliable