Mutational analysis of CD28 in coeliac disease.
Scand J Gastroenterol
; 37(5): 536-9, 2002 May.
Article
en En
| MEDLINE
| ID: mdl-12059054
ABSTRACT
BACKGROUND:
Coeliac disease shows a strong genetic predisposition involving HLA-DQ2 and non-HLA components. The CD28 cell surface molecule, encoded by CD28, represents a potential candidate coeliac disease susceptibility gene. Furthermore, some studies have demonstrated linkage to the CD28/CTLA4 gene region. To investigate whether germline mutations in CD28 contribute to coeliac disease susceptibility, we have carried out a comprehensive analysis of the gene in Swedish patients with biopsy-proven disease.METHODS:
Blood samples were collected from 52 children with biopsy proven coeliac disease attending one Swedish centre. DNA was extracted from lymphocytes and all exons and intron-exon boundaries of CD28 were screened for mutations. Analysis of CD28 was undertaken by a combination of conformation specific gel electrophoresis and direct sequencing.RESULTS:
Three sequence variants were identified a synonymous G-->4A substitution at position 3 of codon 35 encoding alanine, a synonymous G-->A substitution at position 3 of codon 70 encoding glycine, and a T-->C substitution at nucleotide +17 of intron 3. No pathogenic variants were detected.CONCLUSIONS:
There is no evidence from this study that mutations in CD28, which lead to an altered protein, contribute to coeliac disease susceptibility.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad Celíaca
/
Mutación de Línea Germinal
/
Antígenos CD28
Límite:
Adolescent
/
Child
/
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Scand J Gastroenterol
Año:
2002
Tipo del documento:
Article
País de afiliación:
Reino Unido