The molecular scanning on glucokinase and hepatocyte nuclear factor-1 alpha genes in a Chinese MODY/NIDDM family

Abstract

The microsatellite polymorphism genetic markers of glucokinase (GCK,MODY2) and hepatocyte nuclear factor1#alpha# (HNF-1#alpha#,MODY3) genes were selcted to perform the classical linkage analysis in the NIDDM/MODY family 50001.Direct sequencing was employed to confirm the variation of nucleotide(s) in the promoter and all the exons of HNF-1#alpha# gene.No linkage was found in GCK genetic marker with diabetes in family 50001.The maximal LOD(logarithm of odds) score was 2.375 930(0=0.000 000) for the HNF-1#alpha# genetic marker with diabetes at the mode of autosomal dominant in family 50001.By direct sequencing,a heterozygous polymorphism,Ser487 Asn (AGC/AAC),was indicated in exon 7,and it could be found in the diabetic and normal subjects as well.