论文部分内容阅读
目的了解宁波地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症基因突变分布及基因频率,从分子水平上诊断和指导临床诊治。方法应用荧光分析法对新生儿足跟血干滤纸血片进行初筛,对可疑阳性者召回,采集静脉血以G6PD/6PGD比值法进行确诊,同时提取干滤纸血片DNA,进行G6PD基因常见突变位点检测。结果在400例初筛阳性及疑似女性杂合子患儿中,应用基因法检测到273例存在基因突变,检出突变类型11例,具体为c.1376 G>T 85例(31.1%),c.1388G>A 81例(29.7%),c.95 A>G 38例(13.2%),c.1024 C>T 37例(13.5%),c.871G>A 16例(5.9%),c.392 G>T 6例(2.2%),c.1004 C>A 5例(1.8%),c.1360 C>T 2例(0.7%),c.592 C>T 1例(0.4%),c.487 G>A 1例(0.4%),c.517T>C 1例(0.4%),c.1376 G>T+1024C>T 1例(0.4%),c.95A>G+1388G>A 2例(0.7%),c.871G>A+1024C>T 1例(0.4%)。结论宁波地区G6PD缺乏症基因突变类型以c.1376G>T,c.1388G>A,c.95A>G为主,占74%。
Objective To understand the distribution and gene frequency of neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency gene in Ningbo and to diagnose and guide clinical diagnosis and treatment at the molecular level. Methods Fluorescence analysis was used to screen the hematology filter paper of neonatal hematology. The suspicious positive patients were recalled and the venous blood was collected by G6PD / 6PGD ratio method. Meanwhile, the DNA of dried filter paper was extracted for the common mutation of G6PD gene Site detection. Results Among the 400 cases of positive and suspected female heterozygotes, 273 cases of genetic mutations were detected by genetic method. Eleven cases were detected with mutations of c.1376 G> T (31.1%), c 38 (13.2%) of c.95 A> G, 37 (13.5%) of c.1024 C> T, 16 (5.9%) of c.871G> A, (2.2%), c.1004 C> A 5 cases (1.8%), c.1360 C> T 2 cases (0.7%) and c.592 C> T 1 case , c.487 G> A 1 case (0.4%), c.517 T> C 1 case (0.4%), c.1376 G> T +1024 C> T 1 case (0.4%), c.95A> G +1388 G > A 2 cases (0.7%), c.871G> A + 1024C> T 1 cases (0.4%). Conclusion The genotypes of G6PD deficiency in Ningbo are mainly c.1376G> T, c.1388G> A and c.95A> G, accounting for 74%.