广东省佛山市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查与基因突变分析

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Abstract Objective To investigate the incidence of glucose-6-phosphate dehydrogenase deficiency and its gene mutation in the neonates in Foshan, Guangdong Province. Methods A total of 156 227 newborns born in various midwifery institutions under the jurisdiction of Newborn Disease Screening Center of Foshan Women and Children Hospital from January 2019 to December 2020, were selected as the study subjects. Fluorescence analysis was used to screen for glucose-6-phosphate dehydrogenase deficiency in neonatal dry blood spots samples. For those who were positive in the initial screening, their peripheral blood was collected for glucose-6-phosphate dehydrogenase deficiency gene test with the consent of the guardian. Results There were 6361 positive cases of glucose-6-phosphate dehydrogenase deficiency in the initial screening, and the positive rate was 4.07%. The positive rate of male was higher than that of female, and the difference was statistically significant (P ＜ 0.05). A total of 2556 cases of positive glucose-6-phosphate dehydrogenase deficiency were recalled in the initial screening, and the recall success rate was 40.18%. Among them, 575 cases agreed to glucose-6-phosphate dehydrogenase deficiency gene testing, and 559 cases were detected with gene mutation, and the gene coincidence rate was 97.22%. A total of ten mutation types were detected, and the top three mutation rates were c.1376G＞T (31.07%), c.1388G＞A (30.74%), and c.95A＞G (17.36%), accounting for 79.17% of the total mutations. The detection rate of c.517T＞C mutation was 1.49%. Conclusion C.1376G＞T, c.1388G＞A, c.95A＞G are the most common mutations of glucose-6-phosphate dehydrogenase deficiency gene in neonates in Foshan, Guangdong Province. In addition, there are carriers of c.517T＞C mutation in this region. In order to reduce missed diagnosis, this site should be included in the range of genetic testing.

Key words： Neonate Glucose-6-phosphate dehydrogenase deficiency Screening Gene mutation

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	YUAN Weixi SHAO Qiaoyi ZHANG Pengyi LIU Liya LIU Haiping

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YUAN Weixi SHAO Qiaoyi ZHANG Pengyi LIU Liya LIU Haiping. Screening and gene mutation analysis of glucose-6-phosphate dehydroge deficiency in neonates in Foshan, Guangdong Province[J]. 中国医药导报, 2021, 18(28): 48-50,62.

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https://www.yiyaodaobao.com.cn/EN/ OR https://www.yiyaodaobao.com.cn/EN/Y2021/V18/I28/48

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