| Popis: |
To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388GA, c.1376GT, c.95GA, c.1024CT, c.871GA, c.392GT, c.487GA, c.1360CT, c.1004CA, c.517TC, c.592CT, c.94CG, c.152CT, c.320AG, c.1028AG, c.1316GA, c.1327GC and c.1376GC, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous.A total of 18 types of G6PD mutations are identified in the reaserch, and c.94CG, c.1028AG and c.1327GC are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388GA, c.1376GT, c.95GA.武汉地区葡萄糖-6-磷酸脱氢酶缺乏症患者基因突变分析.探讨武汉地区葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者的基因突变特征.对湖北省妇幼保健院1 321例筛查阳性的新生儿及门诊患者进行G6PD基因检测，首选多色探针熔解曲线法(MMCA)检测中国人群常见的12种G6PD基因突变，对于MMCA法未检出者，分析其酶活性和临床信息，必要时进行测序检测.在1 321例受检者中共检出768例突变，检出率58.1%。共检出18种G6PD基因变异类型，包括c.1388GA、c.1376GT、c.95GA、c.1024CT、c.871GA、c.392GT、c.487 GA 、c.1360CT、c.1004CA、c.517TC、 c.592CT 、c.94CG、c.152CT、c.320AG、c.1028AG、c.1316GA、c.1327GC和c.1376GC，其中男性半合子683例，女性纯合子3例，女性杂合子80例，女性复杂杂合2例.本研究共检出18种G6PD基因变异类型，并首次在中国人群中报道了c.94CG、c.1028AG和c.1327GC突变类型。武汉地区人群常见G6PD基因突变类型为c.1388GA、c.1376GT和c.95GA. |
