Journal of Genetics

, Volume 82, Issue 1–2, pp 33–37 | Cite as

Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations

  • Priya Kadam-Pai
  • Xin-Yi Su
  • Jasmin Jiji Miranda
  • Agustinus Soemantri
  • Nilmani Saha
  • Chew-Kiat Heng
  • Poh-San Lai
Article
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Revised:

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. TheRB1 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. ThisRB1 SNP appears to be an ethnic variant prevalent in Southeast Asian populations and may be useful for studyingRB1 inheritance by pedigree analysis.

Keywords

retinoblastoma susceptibility gene (RB1) single nucleotide polymorphism (SNP) allele frequency Asian 
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Copyright information

© Indian Academy of Sciences 2003

Authors and Affiliations

  • Priya Kadam-Pai
    • 1
  • Xin-Yi Su
    • 1
  • Jasmin Jiji Miranda
    • 2
  • Agustinus Soemantri
    • 3
  • Nilmani Saha
    • 4
  • Chew-Kiat Heng
    • 1
  • Poh-San Lai
    • 1
  1. 1.Department of PaediatricsNational University of SingaporeSingapore
  2. 2.National Neuroscience InstituteSingapore
  3. 3.Department of PaediatricsUniversity DiponegoroIndonesia
  4. 4.Department of Human GeneticsUniversity of PittsburghPittsburghUSA

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