title: Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations.
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.
authors: Department of Paediatrics, National University of Singapore, Lower Kent Ridge Road, Singapore 119074. paelaips@nus.edu.sg
authors: Priya
authors: P
authors: Kadam-Pai
authors: Xin-Yi
authors: XY
authors: Su
authors: Jasmin Jiji
authors: JJ
authors: Miranda
authors: Agustinus
authors: A
authors: Soemantri
authors: Nilmani
authors: N
authors: Saha
authors: Chew-Kiat
authors: CK
authors: Heng
authors: Poh-San
authors: PS
authors: Lai
mesh_terms: D001208:Asia; D016022:Case-Control Studies; D017931:DNA Primers; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012175:Retinoblastoma / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics*
chemical_list: D017931:DNA Primers; D016160:Retinoblastoma Protein