CAJ | 학술논문

目的探讨中国青少年的成人起病型糖尿病2型(MODY2)患者的临床特点和分子遗传学特征.方法对2013年2月至8月北京协和医院诊断的4例MODY2家系患者的临床特点及实验室检查资料进行系统性分析并抽提相关家系成员的基因组DNA,聚合酶链式反应(PCR)扩增后进行葡萄糖激酶(GCK)基因直接测序.结果在4例家系中共诊断10例GCK基因突变引起的糖尿病和糖调节受损患者.在8例有临床资料的患者中,高血糖的诊断年龄为5.3～44.0岁,查体是主要发现形式,所有患者血甘油三酯水平均正常或低于正常下限.4个家系的GCK基因检测发现2个新突变c.749G＞ A(R250H)和c.781G＞ C(G261R)和2个已报突变c.127C＞ T(R43C)和c.571C＞T(R191W).结论中国MODY2患者临床表现多样,GCK基因c.749G＞A突变可能是MODY2的致病原因.
목적 탐토중국청소년적성인기병형당뇨병2형(MODY2)환자적림상특점화분자유전학특정.방법 대2013년2월지8월북경협화의원진단적4례MODY2가계환자적림상특점급실험실검사자료진행계통성분석병추제상관가계성원적기인조DNA,취합매련식반응(PCR)확증후진행포도당격매(GCK)기인직접측서.결과 재4례가계중공진단10례GCK기인돌변인기적당뇨병화당조절수손환자.재8례유림상자료적환자중,고혈당적진단년령위5.3～44.0세,사체시주요발현형식,소유환자혈감유삼지수평균정상혹저우정상하한.4개가계적GCK기인검측발현2개신돌변c.749G＞ A(R250H)화c.781G＞ C(G261R)화2개이보돌변c.127C＞ T(R43C)화c.571C＞T(R191W).결론 중국MODY2환자림상표현다양,GCK기인c.749G＞A돌변가능시MODY2적치병원인.
Objective To investigate the clinical characteristics,cause of disease on Chinese maturity-onset diabetes of the young type 2 (MODY2).Methods Four Chinese pedigrees of MODY2 diagnosed by Peking Union Medical College Hospital from February to August in 2013 were analyzed for their clinical features and laboratory data.Genomic DNA of related members in the pedigrees were extracted,followed by amplification with polymerase chain reaction.Then direct sequencing were performed to identify mutations in glucokinase (GCK) gene.Results Totally 10 cases of diabetes and impaired glucose regulation (IGR) caused by GCK mutations were diagnosed in four pedigrees.Age at diagnosis for hyperglycemia was between 5.3 and 44.0 years.Health examination was the most common way to find hyperglycemia.All cases' plasma triglyceride were in the normal range or below the lower limit.Genetic testing for GCK gene found four mutations,two new heterozygous mutation c.749G ＞ A (R250H) and c.781G ＞ C(G261R),two previously reported mutation c.127C ＞ T(R43C) and c.571C ＞ T(R191W).Conclusion Clinical manifestations are various in Chinese MODY2 patients.GCK gene c.749G ＞ A mutation may be the cause of MODY2.