Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations.
J Genet
;
2003 Apr-Aug; 82(1-2): 33-7
Article
Dans Anglais
| IMSEAR
| ID: sea-114450
ABSTRACT
An A --> G single nucleotide polymorphism (SNP) at nucleotide 153,104 in the retinoblastoma susceptibility locus (RB1) at 13q14 was previously reported to be present only in Asians. In this study, we determined the distribution of this SNP in normal Southeast Asian populations (Chinese, Malay, Javanese, Thai, Filipino), in South Asian populations (Bangladeshi, Pakistani Pushtun and Indian) and in Chinese retinoblastoma cases and control subjects. The RB1 SNP was present in all populations at an overall frequency of =/< 0.18. Heterozygosity was higher in the Southeast Asian groups (0.14-0.34) than in the South Asian groups (Bangladeshi and Indian) (0.04-0.06). Significant differences in allele frequencies were found between the two population groups. Interestingly, our Pakistani population comprised of ethnic Pushtuns from northwest Pakistan was significantly different from the neighbouring Bangladeshi and Indian populations. No significant difference was found between Chinese case patients and control subjects. This RB1 SNP appears to be an ethnic variant prevalent in Southeast Asian populations and may be useful for studying RB1 inheritance by pedigree analysis.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Asie
/
Rétinoblastome
/
Variation génétique
/
Polymorphisme de restriction
/
Humains
/
Études cas-témoins
/
Réaction de polymérisation en chaîne
/
Protéine du rétinoblastome
/
Amorces ADN
/
Prédisposition génétique à une maladie
Type d'étude:
Étude observationnelle
/
Facteurs de risque
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
J Genet
Année:
2003
Type:
Article
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