[Identification of a novel glucokinase-E339K mutation in a Chinese maturity onset diabetes of the young 2 pedigree].
OBJECTIVE
To identify the related gene for a typical maturity onset diabetes of the young 2 (MODY2) pedigree.


METHODS
The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on 5', 3' untranslated region and exon 1 - 10 of glucokinase (GCK) gene was carried out. Sequencing in both directions was performed to identify mutation on GCK gene.


RESULTS
A novel GCK-E339K mutation which was cosegregated with diabetes/impaired glucose tolerance was identified.


CONCLUSIONS
The novel GCK-E339K mutation might be linked to this MODY2 pedigree.
Cai
Meng-yin
MY
Department of Endocrinology, The Third Affiliated Hospital, Sun Yat-sen University, Diabetes Research Centre of Guangdong Province, Guangzhou 510630, China.
Liang
Hua
H
Shen
Yun-feng
YF
Bi
Yan
Y
Yan
Jin-hua
JH
Xu
Fen
F
Weng
Jian-ping
JP
D000328:Adult; D044466:Asian People / Q000235:genetics; D001786:Blood Glucose; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree
D001786:Blood Glucose; D005941:Glucokinase