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dbQSNP: A database of SNPs in human promoter regions with allele frequency information determined by single‐strand conformation polymorphism‐based methods
Author(s) -
Tahira Tomoko,
Baba Shingo,
Higasa Koichiro,
Kukita Yoji,
Suzuki Yutaka,
Sugano Sumio,
Hayashi Kenshi
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20196
Subject(s) - single nucleotide polymorphism , biology , single strand conformation polymorphism , genetics , allele frequency , allele , snp , polymorphism (computer science) , minor allele frequency , gene , exon , genotype
We present a database, dbQSNP (http://qsnp.gen.kyushu-u.ac.jp/), that provides sequence and allele frequency information for single-nucleotide polymorphisms (SNPs) located in the promoter regions of human genes, which were defined by the 5' ends of full-length cDNA clones. We searched for the SNPs in these regions by sequencing or single-strand conformation polymorphism (SSCP) analysis. The allele frequencies of the identified SNPs in two ethnic groups were quantified by SSCP analyses of pooled DNA samples. The accuracy of our estimation is supported by strong correlations between the frequencies in our data and those in other databases for the same ethnic groups. The frequencies vary considerably between the two ethnic groups studied, suggesting the need for population-based collections and allele frequency determination of SNPs, in, e.g., association studies of diseases. We show profiles of SNP densities that are characteristic of transcription start site regions. A fraction of the SNPs revealed a significantly different allele frequency between the groups, suggesting differential selection of the genes involved.