Linked Life Data

15660195

Source:http://linkedlifedata.com/resource/pubmed/id/15660195

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-1-20
pubmed:abstractText
Mutation of HNF-1beta gene has been reported in early onset diabetes or MODY families and this gene has been defined as MODY5 gene. The aim of our study was to examine whether HNF-1beta mutation contribute to early onset or multiple affected diabetes pedigrees in Chinese. Molecular scanning of HNF-1beta gene promoter region, nine exons and flanking introns was performed in 154 unrelated probands from early onset and multiple affected diabetes Chinese pedigrees. The family members of probands with mutations or variants and 58 nondiabetics were also examined. Clinical examinations of renal morphology, renal function and beta-cell function were performed in the HNF-1beta gene mutation carriers and family members. Mutation of HNF-1beta gene causing the substitution S36F was found in two subjects of an early onset diabetic family. One carrier has early onset diabetes, renal function impairment and renal cyst, while the other has impaired glucose tolerance only. This is the first case of MODY5 gene mutation diabetes found in the Chinese. Three HNF-1beta variants were identified and no significant differences in allele frequencies for these variants were detected between the nondiabetic and diabetic groups. Nucleotide 66 of intron 8 of HNF-1beta gene was G in the Chinese population rather than A as noted in the GenBank sequence. These results suggest that HNF-1beta gene mutations may be associated with nondiabetic renal dysfunction and diabetes in Chinese, but they are responsible for only a small percentage of early onset or multiple affected diabetes pedigrees including MODY.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0940-5429
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
137-45
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:15660195-Adenine, pubmed-meshheading:15660195-Adult, pubmed-meshheading:15660195-Aged, pubmed-meshheading:15660195-Amino Acid Substitution, pubmed-meshheading:15660195-Asian Continental Ancestry Group, pubmed-meshheading:15660195-Base Sequence, pubmed-meshheading:15660195-Case-Control Studies, pubmed-meshheading:15660195-DNA-Binding Proteins, pubmed-meshheading:15660195-Diabetes Mellitus, pubmed-meshheading:15660195-Exons, pubmed-meshheading:15660195-Female, pubmed-meshheading:15660195-Genetic Testing, pubmed-meshheading:15660195-Genetic Variation, pubmed-meshheading:15660195-Guanine, pubmed-meshheading:15660195-Hepatocyte Nuclear Factor 1-beta, pubmed-meshheading:15660195-Heterozygote, pubmed-meshheading:15660195-Humans, pubmed-meshheading:15660195-Introns, pubmed-meshheading:15660195-Male, pubmed-meshheading:15660195-Middle Aged, pubmed-meshheading:15660195-Molecular Sequence Data, pubmed-meshheading:15660195-Mutation, pubmed-meshheading:15660195-Pedigree, pubmed-meshheading:15660195-Phenylalanine, pubmed-meshheading:15660195-Promoter Regions, Genetic, pubmed-meshheading:15660195-Serine, pubmed-meshheading:15660195-Transcription Factors
pubmed:year
2004
pubmed:articleTitle
Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.
pubmed:affiliation
Department of Endocrinology and Metabolism, Shanghai Diabetes Institute, Shanghai No. 6 People's Hospital, Shanghai Jiao Tong University, 600 Yishan Road, Shanghai 200233, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't