中华糖尿病杂志
中華糖尿病雜誌
중화당뇨병잡지
CHINES JOURNAL OF DLABETES MELLITUS
2014年
6期
397-401
,共5页
王志新%平凡%张茜%郑佳%李明敏%刘一静%张化冰%于淼%李文慧
王誌新%平凡%張茜%鄭佳%李明敏%劉一靜%張化冰%于淼%李文慧
왕지신%평범%장천%정가%리명민%류일정%장화빙%우묘%리문혜
糖尿病,妊娠%妊娠期糖代谢异常%青少年的成人起病型糖尿病2型%葡萄糖激酶基因突变
糖尿病,妊娠%妊娠期糖代謝異常%青少年的成人起病型糖尿病2型%葡萄糖激酶基因突變
당뇨병,임신%임신기당대사이상%청소년적성인기병형당뇨병2형%포도당격매기인돌변
Diabetes,gestational%Abnormal glucose metabolism in pregnancy%Maturity-onset diabetes of the young type 2%Glucokinase gene mutation
目的 初步明确中国妊娠期血糖异常人群中葡萄糖激酶(GCK)基因突变情况.方法 回顾性选择2005年7月至2008年5月在北京协和医院进行妊娠期血糖筛查并进行了口服葡萄糖耐量试验(OGTT)和糖化血红蛋白(HbA1c)检测的妊娠妇女.以空腹血糖在5.5～ 10.0 mmol/L、OGTT试验2h与0h血糖差值小于4.6 mmol/L且HbA1c值小于8.0％作为筛选条件,对满足所有条件者进行GCK基因外显子区和启动子区-71G＞C的突变筛查.结果 共纳入577例受试者,符合GCK基因检测条件者30例,可获得标本数17例,发现1例GCK基因突变致青少年的成人起病型糖尿病2型(MODY2)患者和1处非编码区新变异.该MODY2患者6号外显子区c.626 C＞T(NM_000162.3)突变导致第209位编码氨基酸从苏氨酸变为甲硫氨酸(p.T209M,NP_000153.1).推测中国妊娠期血糖异常人群GCK最小突变率为0.27％,估测中国总人群中MODY2的最小患病率为21/10万.结论 中国妊娠期血糖异常的人群中GCK基因突变并不常见.
目的 初步明確中國妊娠期血糖異常人群中葡萄糖激酶(GCK)基因突變情況.方法 迴顧性選擇2005年7月至2008年5月在北京協和醫院進行妊娠期血糖篩查併進行瞭口服葡萄糖耐量試驗(OGTT)和糖化血紅蛋白(HbA1c)檢測的妊娠婦女.以空腹血糖在5.5～ 10.0 mmol/L、OGTT試驗2h與0h血糖差值小于4.6 mmol/L且HbA1c值小于8.0％作為篩選條件,對滿足所有條件者進行GCK基因外顯子區和啟動子區-71G＞C的突變篩查.結果 共納入577例受試者,符閤GCK基因檢測條件者30例,可穫得標本數17例,髮現1例GCK基因突變緻青少年的成人起病型糖尿病2型(MODY2)患者和1處非編碼區新變異.該MODY2患者6號外顯子區c.626 C＞T(NM_000162.3)突變導緻第209位編碼氨基痠從囌氨痠變為甲硫氨痠(p.T209M,NP_000153.1).推測中國妊娠期血糖異常人群GCK最小突變率為0.27％,估測中國總人群中MODY2的最小患病率為21/10萬.結論 中國妊娠期血糖異常的人群中GCK基因突變併不常見.
목적 초보명학중국임신기혈당이상인군중포도당격매(GCK)기인돌변정황.방법 회고성선택2005년7월지2008년5월재북경협화의원진행임신기혈당사사병진행료구복포도당내량시험(OGTT)화당화혈홍단백(HbA1c)검측적임신부녀.이공복혈당재5.5～ 10.0 mmol/L、OGTT시험2h여0h혈당차치소우4.6 mmol/L차HbA1c치소우8.0％작위사선조건,대만족소유조건자진행GCK기인외현자구화계동자구-71G＞C적돌변사사.결과 공납입577례수시자,부합GCK기인검측조건자30례,가획득표본수17례,발현1례GCK기인돌변치청소년적성인기병형당뇨병2형(MODY2)환자화1처비편마구신변이.해MODY2환자6호외현자구c.626 C＞T(NM_000162.3)돌변도치제209위편마안기산종소안산변위갑류안산(p.T209M,NP_000153.1).추측중국임신기혈당이상인군GCK최소돌변솔위0.27％,고측중국총인군중MODY2적최소환병솔위21/10만.결론 중국임신기혈당이상적인군중GCK기인돌변병불상견.
Objective To preliminarily assess the rate of glucokinase (GCK) gene mutation in Chinese gestational subjects with abnormal glucose metabolism.Methods We retrospectively analyzed Chinese gestational subjects who received oral glucose tolerance test and glycosylated hemoglobin A1c (HbA1c) detection in Peking Union Medical College Hospital (PUMCH) from July 2005 to May 2008.Subjects were selected for direct sequencing of GCK gene if they met the following three criteria:(1) fasting plasma glucose was between 5.5 and 10.0 mmol/L; (2) a small increase (＜ 4.6 mmol/L) in plasma glucose 2 hours after an oral glucose load ; (3) HbA1 c was below 8.0％.Results A total of 577 subjects were collected in this study,in which 30 subjects met the criteria for GCK gene mutation testing.Of the 17 subjects whose DNA samples were obtainable,one case of maturity-onset diabetes of the young type 2 (MODY2) with GCK gene mutation c.626 C ＞ T(NM_000162.3) in exon6 and one case with previously unreported variation in noncoding region had been found.The mutation c.626C ＞ T(NM_000162.3) resulted in the substitution of methionine for threonine in amino acid 209 (p.T209M,NP_000153.1).It was estimated the minimum GCK gene mutation rate was 0.27％ in Chinese gestational subjects with abnormal glucose metabolism,and the minimum prevalence of MODY2 was 21/100 000 in Chinese population.Conclusion The GCK gene mutations are not common in Chinese gestational subjects with abnormal glucose metabolism.
