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Complete molecular scanning of the human Fas gene: mutational analysis and linkage studies in families with type I diabetes mellitus. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group.
Diabetologia ; 43(6): 800-8, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10907126
ABSTRACT
AIMS/

HYPOTHESIS:

The human Fas gene (FAS) on chromosome 10q24.1 encoding a cell surface receptor involved in apoptosis was evaluated as a candidate susceptibility gene for Type I (insulin-dependent) diabetes mellitus. Apoptosis mediated by Fas is important in maintaining peripheral self-tolerance and in down-regulating the immune response and could have a role in immune-mediated beta-cell destruction.

METHODS:

We did a molecular scan of the entire human FAS (promoter, exons 1-9 including exon-intron boundaries and the 3'UTR) using single strand conformational polymorphism-heteroduplex analysis.

RESULTS:

We identified 15 mutations, of which 11 are new. Of these a g-1194A-->T and a g-295Ains give rise to alterations of transcription-factor-binding consensus sequences for c-Myb, SP-1 and NF-kappa B, respectively. A total of 1068 people from a Danish family collection comprising 138 Type I diabetic sib-pair families (289 affected and 121 unaffected offspring) and 103 Type I diabetic parent-offspring multiplex families (103 affected and 112 unaffected offspring) were typed for the three most frequent polymorphisms with high heterozygosity indices and for a FAS microsatellite. Haplotypes were established and data analysed using the extended transmission disequilibrium test, ETDT. CONCLUSION/

INTERPRETATION:

We found no overall evidence for linkage of the FAS polymorphisms to Type I diabetes. We conclude that it is unlikely that the Fas gene does contribute to genetic susceptibility for Type I diabetes.
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Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 10 / Receptor fas / Diabetes Mellitus Tipo 1 / Mutação Tipo de estudo: Ensaio clínico controlado / Screening_studies Limite: Adulto / Criança / Feminino / Humanos / Masculino País/Região como assunto: Europa Idioma: Inglês Revista: Diabetologia Ano de publicação: 2000 Tipo de documento: Artigo País de afiliação: Dinamarca