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目的:探讨中国河南汉族２型糖尿病(ＤＭ２)家系患者与 ＨＮＦ—４α基因ｅｘｏｎ ４、ｅｘｏｎ ７是否关联。方法:选择１２个ＤＭ２家系(５１份标本);１１１例 ＤＭ２患者;１０２例健康献血者作对照,进行ＰＣＲ—ＳＳＣＰ分析。结果:５１例ＤＭ２家系成员中４例 ＨＮＦ—４ａ基因ｅｘｏｎ ４出现异常条带,其中１例ＯＧＴＴ正常,而ＨＮＦ—４ａ基图ｅｘｏｎ ７ ｋ见异常条带。给论:ＨＮＦ—４α基因ｅｘｏｎ ４可能是中国河南汉族ＤＭ２家系—ＭＯＤＹ１的主要致病基因片段,ｅｘｏｎ ７片段与 ＭＯＤＹ可能无关联。
Objective: To investigate whether HNF-4α gene exon 4 and exon 7 are associated with family history of type 2 diabetes (DM2) in Han nationality in Henan Province, China. Methods: Twelve DM2 pedigrees (51 specimens) were selected; 111 DM2 patients and 102 healthy blood donors were selected as controls for PCR-SSCP analysis. Results: In 51 DM2 pedigree members, 4 cases of HNF-4a gene exon 4 showed abnormal bands, of which 1 case had normal OGTT, while HNF-4a showed exon 7 k abnormal bands. To give a conclusion: exon 4 of HNF-4α gene may be the major causative gene fragment of MODY1, a DM2 pedigree of Han nationality in Henan, China. The exon 7 fragment may not be associated with MODY.