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
Department of Clinical Molecular Medicine & Newborn Screening Center, Children's Hospital of Chongqing Medical University, Chongqing, China.
Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Hum Mutat. 2020 Jan;41(1):212-221. doi: 10.1002/humu.23911. Epub 2019 Sep 23.
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.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是由G6PD基因变异引起的最常见的X连锁酶病之一。我们旨在提供中国大规模新生儿筛查人群中G6PD缺乏症的特征及G6PD基因变异分布情况。我们调查了2013年至2017年中国G6PD的患病率。然后，在2016年，我们对具有代表性的中国出生队列进行了G6PD活性和G6PD基因检测，以探索G6PD基因变异的分布。接着，我们对10357名G6PD活性确诊缺乏的新生儿进行了多色熔解曲线分析，以对G6PD基因变异进行分类，若未发现热点变异，则对G6PD编码外显子进行DNA桑格测序。2013年至2017年，中国G6PD缺乏症的筛查人群、机构和省份均有所增加。G6PD基因变异的前五位频率分别为c.1376G>T、c.1388G>A、c.95A>G、c.1024C>T和c.871G>A，且在不同省份有所不同，具有区域和种族特征，四个致病性变异位点（c.152C>T、c.290A>T、c.697G>C和c.1285A>G）首次被报道。G6PD缺乏症主要发生在中国南方，G6PD基因变异的频率在不同地区和种族中有所不同。
