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    • Keywords


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

    • 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.

    • Author Affiliations


      Priya Kadam-Pai1 Xin-Yi Su1 Jasmin Jiji Miranda2 Agustinus Soemantri3 Nilmani Saha4 Chew-Kiat Heng1 Poh-San Lai1

      1. Department of Paediatrics, National University of Singapore, Lower Kent Ridge Road - 119074, Singapore
      2. National Neuroscience Institute - 308433, Singapore
      3. Department of Paediatrics, University Diponegoro - 50241, Indonesia
      4. Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA - 15261, USA
    • Dates

  • Journal of Genetics | News

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      Posted on July 25, 2019

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