Frequent mutation in North African patients with MUTYH-associated polyposis.
Clin Genet
; 80(4): 389-93, 2011 Oct.
Article
en En
| MEDLINE
| ID: mdl-21443744
ABSTRACT
MUTYH-associated polyposis (MAP) has been characterized as an autosomal recessive disease predisposing to a variable number of colorectal adenomas with a high risk of cancer. Numerous studies have indicated that two missense mutations (Y179C and G396D) account for about 80% of MUTYH allelic variants in Europeans. Ethnic and geographic differences in the mutation spectrum have been observed. The aim of this study was to report mutations in patients from North Africa, determine the incidence of the c.1227_1228dup mutation in our cohort of MUTYH patients and to evaluate the existence of a founder effect. Within a group of 36 families with MAP, 11 were shown to have a homozygous c.1227_1228dup mutation. These families came from Algeria (n = 5), Tunisia (n = 4), Morocco (n = 1) and Portugal (n = 1). Probands belonging to families of North African origin showed a significantly higher frequency of c.1227_1228dup (78.6% vs 4.5%, p < 0.0001). Haplotype analyses were performed using 10 microsatellite markers surrounding the MUTYH gene spanning a region of 4.4 cM. We identified a common haplotype of at least 1.3 cM in all families suggesting a founder effect for this mutation.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Poliposis Adenomatosa del Colon
/
ADN Glicosilasas
/
Mutación
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
País/Región como asunto:
Africa
Idioma:
En
Revista:
Clin Genet
Año:
2011
Tipo del documento:
Article
País de afiliación:
Francia