[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].
OBJECTIVE
To screen the mutation of hepatocyte nuclear factor 4 alpha gene (HNF4A) in Chinese pedigrees with early and/or multiplex-onset diabetes in Shanghai and nearby area.


METHODS
By PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing, the mutation screen of HNF4A gene was performed in 93 normal controls and 154 unrelated probands from early- and/or multiplex-onset diabetes. The PCR-RFLP was used to analyze the frequencies of the discovered mutations and variants.


RESULTS
Two synonymous mutations (N153N, A158A) were found in two families, of which the N153N was co-segregated with early-onset diabetes. These two synonymous mutations were not detected in the 93 normal controls. Three variants, IVS1+308(A to G)(rs2071197), IVS1+357(A to T)(rs2071198), IVS1-5(C to T)(rs745975), were also identified in this study. The genotype and allele frequencies of the three variants had no difference between the probands and normal controls.


CONCLUSIONS
HNF4A gene mutation is rare in Chinese pedigrees with early and/or multiplex-onset diabetes.
Zhang
Rong
R
Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Jiaotong University Affiliated No. 6 People's Hospital, Shanghai Diabetes Clinical Center, Shanghai 200233, P. R. China.
Hu
Cheng
C
Wang
Cong-rong
CR
Fang
Qi-chen
QC
Ma
Xiao-jing
XJ
Jia
Wei-ping
WP
Xiang
Kun-san
KS
D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D003920:Diabetes Mellitus / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D051557:Hepatocyte Nuclear Factor 4