关键词: 葡萄糖-6-磷酸脱氢酶缺乏症, G6PD基因, 女性, 新生儿

Abstract: Objective To explore incidence gene types of glucose-6-phosphate dehydrogenase deficiency,and provide the support for genetic counseling and clinical medication.Methods We found 81 112 neonates who were newborn screened by glucose 6 phosphate dehydrogenase quantitative testing during the period from June 2016 to December 2017 in Liu zhou Maternal and Child Health Hospital,329 blood samples were collected from 2 595 suspected patients,and 50 blood samples of female neonates who were newborn screened by glucose 6 phosphate dehydrogenase quantitative testing were normal. G6PD gene were analyzed by multiplex probe melting curve to detect the 12 types common G6PD gene mutations.Results There were 301 cases detected gene mutation in 329 cases (236 male, 93 female) of samples. Multiplex probe melting curve has detected 28 wild type samples(9 male, 19 female),227 male hemizygous mutation samples,7 female homozygous mutation samples,20 female compound heterozygous mutation samples and 47 female heterozygous mutation samples. Find 10 different mutation types:71 cases of 95A>G(23.6%),1 cases of 392G>T(0.33%),1 cases of 517T>C(0.33%),1 cases of 592C>T(0.33%),12 cases of 871G>A(3.99%),3 cases of 1004C>A(0.99%),31 cases of 1024C>T(10.3%),1 cases of 1360C>T(0.33%),69 cases of 1376G>T(22.9%),111 cases of 1388G>A(36.9%),383T>C and 487G>A mutations were not detected. 4 female heterozygous mutation samples were detected form 50 female neonates.Conclusion 1388G>A、95A>G and 1376G>T are the most common types of G6PD gene mutation in Guangxi Liuzhou, multiplex probe melting curve analysis for G6PD gene mutation is sensitive for diagnosis female heterozygous mutation.

Key words: glucose-6-phosphate dehydrogenase deficiency, G6PD gene, female, neonate