妊娠期血糖异常者葡萄糖激酶基因突变筛查

doi:10.3969/j.issn.1006-7795.2020.01.009

首都医科大学学报 ›› 2020, Vol. 41 ›› Issue (1): 45-49.doi: 10.3969/j.issn.1006-7795.2020.01.009

• 糖尿病的临床与基础研究 • 上一篇下一篇

妊娠期血糖异常者葡萄糖激酶基因突变筛查

元沙沙, 马燕, 吴南楠, 许月超, 杨龙艳, 柯静, 赵冬

首都医科大学附属北京潞河医院内分泌代谢与免疫性疾病中心糖尿病防治北京市重点实验室, 北京 101149

收稿日期:2019-12-12 出版日期:2020-02-21 发布日期:2020-02-13
通讯作者: 赵冬 E-mail:zhaodong@ccmu.edu.cn
基金资助:
通州区科技计划项目（KJ2019CX013）。

Screening of glucokinase gene in pregnancy women with abnormal glucose metabolism

Yuan Shasha, Ma Yan, Wu Nannan, Xu Yuechao, Yang Longyan, Ke Jing, Zhao Dong

Beijing Key Laboratory of Diabetes Research and Care, Center for Endocrine Metabolism and Immune Diseases, Beijing Luhe Hospital, Capital Medical University, Beijing 101149, China

Received:2019-12-12 Online:2020-02-21 Published:2020-02-13
Supported by:
This study was supported by the Tongzhou Science and Technology Project Foundation (KJ2019CX013).

摘要/Abstract

摘要： 目的初步评估葡萄糖激酶（glucokinase，GCK）基因突变引起的青少年发病的成年型糖尿病2型（maturity onset diabetes of the young 2，MODY2）在妊娠期血糖异常人群中的比例，建立一种识别GCK基因突变的筛查方法。方法回顾性分析2016年1月1日至2018年12月31日在首都医科大学附属北京潞河医院进行孕期检查的妊娠妇女，以孕早期、孕中期及孕后期空腹静脉血糖均≥5.5 mmol/L，血清三酰甘油至少1次≤1.43 mmol/L，妊娠24~28周75 g葡萄糖耐量试验2 h增量小于4.6 mmol/L为筛查条件，对受试者进行葡萄糖激酶基因序列测定。结果共纳入2 454例受试者，符合GCK基因筛查条件者12例，获得外周血DNA标本5例，发现1例GCK基因突变者。结论妊娠期间3次空腹静脉血糖均≥5.5 mmol/L且血清三酰甘油至少1次≤1.43 mmol/L且口服葡萄糖耐量试验2 h血糖增量< 4.6 mmol/L的方法，可以发现GCK基因突变，该类型糖尿病在妊娠期血糖异常人群中比较罕见。

关键词: 妊娠期血糖异常, 青少年发病的成年型糖尿病2型, 葡萄糖激酶基因突变型青少年起病的成年型糖尿病

Abstract: Objective To estimate the prevalence of maturity onset diabetes of the young 2 (MODY2) caused by glucokinase (GCK) gene mutation and to establish a clinical strategy for identifying GCK gene mutation in pregnancy woman. Methods A retrospective study was conducted on pregnant women undergoing pregnant examination at Luhe Hospital, Capital Medical University on January 1, 2016 and December 31, 2018.The GCK gene was sequenced in patients meeting the following criteria:fasting blood glucose(FBG) ≥ 5.5 mmol/L (at least 3 times) and triglyceride (TG) ≤ 1.43 mmol/L (at least once). The 2-hour increment of 75 g glucose tolerance test was less than 4.6 mmol/L in 24-28 weeks of gestation. Results A total of 2 454 subjects were screened of which 12 patients met the screening criteria. DNA samples of 5 patients were sequenced, with 1 patient with GCK mutation identified. Conclusion Our screening method based on FBG ≥ 5.5 mmol/L (at least 3 times), triglyceride ≤ 1.43 mmol/L(at least once) and oral glucose tolerance test(OGTT)2 h glucose increment < 4.6 mmol/L is feasible for screening GCK gene mutation in pregnant women. GCK mutation is not the main cause of abnormal gestational blood glucose in China.

Key words: abnormal blood glucose during pregnancy, maturity onset diabetes of the young 2, glucokinase-maturity onset diabetes the young

中图分类号:

R587

元沙沙, 马燕, 吴南楠, 许月超, 杨龙艳, 柯静, 赵冬. 妊娠期血糖异常者葡萄糖激酶基因突变筛查[J]. 首都医科大学学报, 2020, 41(1): 45-49.

Yuan Shasha, Ma Yan, Wu Nannan, Xu Yuechao, Yang Longyan, Ke Jing, Zhao Dong. Screening of glucokinase gene in pregnancy women with abnormal glucose metabolism[J]. Journal of Capital Medical University, 2020, 41(1): 45-49.

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妊娠期血糖异常者葡萄糖激酶基因突变筛查

Screening of glucokinase gene in pregnancy women with abnormal glucose metabolism

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