PMID- 10588527
OWN - NLM
STAT- MEDLINE
DCOM- 19991228
LR  - 20220321
IS  - 0742-3071 (Print)
IS  - 0742-3071 (Linking)
VI  - 16
IP  - 11
DP  - 1999 Nov
TI  - Molecular genetics of diabetes mellitus in Chinese subjects: identification of
      mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients
      with early-onset type 2 diabetes mellitus/MODY.
PG  - 956-63
AB  - AIMS: To examine the prevalence of identified MODY-related genes in Chinese
      subjects with early onset Type 2 diabetes mellitus and a positive family history 
      of diabetes and to look for possible associations between the gene mutations and 
      the development of diabetes. METHODS: Ninety-two unrelated Chinese subjects with 
      diabetes diagnosed before the age of 40 years who had a positive family history
      of diabetes were screened for mutations in hepatocyte nuclear factors (HNF-1alpha
      and HNF-4alpha) and glucokinase genes by direct sequencing. The family members of
      patients with mutations and 100 healthy controls were also examined. RESULTS:
      Mutations in the HNF-1alpha and the glucokinase genes were found in 5% and 3% of 
      the diabetic subjects, respectively but no mutations were found in the coding
      region of the HNF-4alpha gene. Three mutations found in the glucokinase gene were
      novel missense mutations (I110T, A119D and G385V). The mutations in the
      HNF-1alpha gene were also new and included four missense mutations (G20R, R203H, 
      S432C, I618M) and one splice acceptor site mutation (IVS2nt-1G-->A). Patients
      with mutations in these genes were clinically heterogeneous with respect to
      phenotype and basal pancreatic beta cell function. CONCLUSIONS: Genetic factors
      such as mutations in the HNF-1alpha and glucokinase genes may be important in the
      development of diabetes in Chinese people, especially when the disease is of
      early onset.
FAU - Ng, M C
AU  - Ng MC
AD  - Department of Medicine, The Chinese University of Hong Kong, Prince of Wales
      Hospital, Shatin, Hong Kong. b770727@mailserv.cuhk.edu.hk
FAU - Cockburn, B N
AU  - Cockburn BN
FAU - Lindner, T H
AU  - Lindner TH
FAU - Yeung, V T
AU  - Yeung VT
FAU - Chow, C C
AU  - Chow CC
FAU - So, W Y
AU  - So WY
FAU - Li, J K
AU  - Li JK
FAU - Lo, Y M
AU  - Lo YM
FAU - Lee, Z S
AU  - Lee ZS
FAU - Cockram, C S
AU  - Cockram CS
FAU - Critchley, J A
AU  - Critchley JA
FAU - Bell, G I
AU  - Bell GI
FAU - Chan, J C
AU  - Chan JC
LA  - eng
GR  - DK-20595/DK/NIDDK NIH HHS/United States
GR  - DK-44840/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Diabet Med
JT  - Diabetic medicine : a journal of the British Diabetic Association
JID - 8500858
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (HNF1A protein, human)
RN  - 0 (HNF1B protein, human)
RN  - 0 (Hepatocyte Nuclear Factor 1-alpha)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
RN  - 126548-29-6 (Hepatocyte Nuclear Factor 1)
RN  - 138674-15-4 (Hepatocyte Nuclear Factor 1-beta)
RN  - EC 2.7.1.2 (Glucokinase)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Amino Acid Substitution
MH  - Asians/*genetics
MH  - Child
MH  - China
MH  - *DNA-Binding Proteins
MH  - Diabetes Mellitus, Type 2/*genetics
MH  - Exons
MH  - Family
MH  - Female
MH  - Glucokinase/*genetics
MH  - Hepatocyte Nuclear Factor 1
MH  - Hepatocyte Nuclear Factor 1-alpha
MH  - Hepatocyte Nuclear Factor 1-beta
MH  - Humans
MH  - Introns
MH  - Male
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - *Nuclear Proteins
MH  - *Point Mutation
MH  - Transcription Factors/*genetics
EDAT- 1999/12/10 00:00
MHDA- 1999/12/10 00:01
CRDT- 1999/12/10 00:00
PHST- 1999/12/10 00:00 [pubmed]
PHST- 1999/12/10 00:01 [medline]
PHST- 1999/12/10 00:00 [entrez]
AID - 10.1046/j.1464-5491.1999.00188.x [doi]
PST - ppublish
SO  - Diabet Med. 1999 Nov;16(11):956-63. doi: 10.1046/j.1464-5491.1999.00188.x.