Skip to main content

Advertisement

Log in

The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era

  • Original investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

The incidence of adenine phosphoribosyltransferase (APRT) deficiency is higher among Japanese nationals than among other ethnic groups, and the most common mutation (APRT*J, ATG to ACG mutation at codon 136) accounts for 68% of the disease-causing genes among Japanese. To investigate the origin of these mutations, we studied the geographical distribution of the mutant genes in Japan. The APRT*J mutation is distributed nearly uniformly in the four main islands of Japan and Okinawa, suggesting a very early origin. The products of PCR amplification between positions 2344 and 2750 of the genomic APRT sequence were examined by SSCP analysis in random blood samples from Japanese, Korean, and Taiwanese nationals. Among 955 random Japanese blood samples, 7 (0.73%) were heterozygous for the APRT*J mutation, giving a calculated heterozygote frequency of 1.1% among Japanese for the entire APRT deficiency. None of 231 Taiwanese samples contained heterozygotes for the APRT*J mutation, while 2 (0.53%) of 356 Korean samples were heterozygous. In addition to the APRT*J sequence, a total of five variant sequences was found. Sequencing one variant revealed a base substitution in intron 4, suggesting therefore that they are harmless mutations. Since the APRT*J mutation is present in Koreans and Okinawans who share ancestors only before the Yayoi era (third century bc to third century ad), the origin of the APRT*J mutation predates 300 bc.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Received: 14 May 1996

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kamatani, N., Terai, C., Kim, S. et al. The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. Hum Genet 98, 596–600 (1996). https://doi.org/10.1007/s004390050266

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390050266

Keywords

Navigation