title: 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.
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.
authors.affiliation: RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Iida
authors.forename: Y
authors.initials: Y
authors.lastname: Ohnishi
authors.forename: K
authors.initials: K
authors.lastname: Ozaki
authors.forename: Y
authors.initials: Y
authors.lastname: Ariji
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D019992:Databases as Topic; D004062:DiGeorge Syndrome / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions