Short Communication | Published:

High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2

Journal of Human Genetics volume 46, pages 604608 (2001) | Download Citation

Abstract

We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 Japanese individuals: 9 SNPs in the 5′ flanking region, 3 in the 5′ untranslated region, 2 in the coding regions, 77 in introns, 7 in the 3′ untranslated region, and 4 in the 3′ flanking region. By a comparison of our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, 80 SNPs (78.4%) were considered to be novel. The ratio of transition to transversion was 3.08:1. In addition, eight other types of genetic variations (one GA dinucleotide polymorphism and seven insertion/deletion polymorphisms) were discovered. The high-resolution map that we constructed will be a useful resource for analyzing gene scans of complex diseases mapped to this local segment on chromosome 22.

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Affiliations

  1. Laboratory for Genotyping, RIKEN SNP Research Center, c/o Institute of Medical Science, The University of Tokyo, Tokyo, Japan

    • Aritoshi Iida
    •  & Yusuke Nakamura
  2. Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan

    • Yusuke Nakamura
  3. Laboratory for Cardiovascular Diseases, RIKEN SNP Research Center, c/o Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan

    • Yozo Ohnishi
    • , Kouichi Ozaki
    • , Yoko Ariji
    •  & Toshihiro Tanaka

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Corresponding author

Correspondence to Toshihiro Tanaka.

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DOI

https://doi.org/10.1007/s100380170029

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