title: Preliminary screening of mutations in the glucokinase gene of Chinese patients with gestational diabetes.
abstract: OBJECTIVE
  Mutations in the glucokinase gene (GCK) are a pathogenetic cause of maturity-onset diabetes of the young. Studies have found that female patients with GCK maturity-onset diabetes of the young often present with gestational diabetes during pregnancy. Our aim was to preliminarily assess the prevalence of mutations in the glucokinase gene in Chinese women with gestational diabetes.
  
  
  METHODS
  Chinese gestational diabetes patients who underwent a 100-g oral glucose tolerance test in Peking Union Medical College Hospital from July 2005 to May 2008 were retrospectively analyzed. Participants were selected for direct sequencing of the GCK gene if they met the following criteria: (i) fasting plasma glucose between 5.5 and 10.0 mmol/L; and (ii) a small increment (<4.6 mmol/L) during a 2-h oral glucose tolerance test.
  
  
  RESULTS
  Of the 501 participants with gestational diabetes, there were 38 participants who met the criteria for GCK analysis. In the 29 participants whose deoxyribonucleic acid samples were available, two mutations in coding regions were detected, c.626 C>T (p.T209M, NP_000153.1) mutation in exon 6 and c.824 G>A (p.R275H, NP_000153.1; rs767565869) mutation in exon 7. According to our results, the minimum prevalence of GCK mutations in Chinese women with gestational diabetes was estimated to be 0.4%, and the minimum prevalence of GCK maturity-onset diabetes of the young in the Chinese population might be one in 2,000.
  
  
  CONCLUSIONS
  Our screening criteria allowed for the identification of glucokinase-deficient patients who were diagnosed with gestational diabetes, and these mutations in the GCK gene were not common in Chinese women with gestational diabetes.
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Zhixin
authors.identifier: http://orcid.org/0000-0003-2383-1010
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Ping
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Huabing
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Miao
authors.initials: M
authors.lastname: Yu
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Wenhui
authors.initials: W
authors.lastname: Li
authors.affiliation: Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Xiao
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D016640:Diabetes, Gestational / Q000201:enzymology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D012189:Retrospective Studies
chemical_list: D005941:Glucokinase
keywords: Chinese; Gestational diabetes mellitus; Glucokinase