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Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017
Author(s) -
Liu Zhidai,
Yu Chaowen,
Li Qingge,
Cai Ren,
Qu Yiping,
Wang Weipeng,
Wang Jie,
Feng Jinwen,
Zhu Wenbin,
Ou Mingcai,
Huang Weitong,
Tang Deguo,
Guo Wei,
Liu Fangjie,
Chen Yanhua,
Fu Lifang,
Zhou Yanxia,
Lv Wenqiong,
Zhang Hang,
Zhang Juan,
Wang Ming,
Yang Jing,
Wan Kexing,
Miao Jingkun,
Yuan Zhaojian,
Liu Hao,
He Xiaoyan,
Li Wenjie,
Chen Wengao,
Ye Lixin,
Chen Yajun,
Huang Shuodan,
Liu Haiping,
Ding Hongxiang,
Gan Xinhui,
Wang Shuyuan,
Qiang Rong,
Gong Minhong,
Teng Ping,
Wang Hua,
Zhou Muping,
Wei Hongwei,
Liu Xiangju,
Tang Kai,
Ma Yahong,
Wu Hongliang,
Shu Xiaoli,
Chen Yizhen,
Zhuang Danyan,
Li Hui,
Liu Zhi,
Liu Xiulian,
Chen Yao,
Zhu Lidan,
Zhu Xiaoyan,
Mo Caihong,
Tang Hua,
Yin Feng,
Shao Zhibing,
Zhang Penghui,
Peng Bin,
Lu Qing,
Wang Zhiguo,
Zou Lin
Publication year - 2020
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23911
Subject(s) - biology , sanger sequencing , gene , genetics , exon , newborn screening , population , allele frequency , coding region , allele , dna sequencing , demography , sociology
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is one of the most common X‐linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity‐confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.