Chonnam Med J.  2002 Sep;38(3):202-209.

Search for the cSNP Frequencies of N-acetyltransferase 2 and NAD(P)H Dehydrogenase, Quinone 1 in DNA pool of Korean People

• Kim KH
• Yeom KS
• Choi C

Abstract

Single nucleotide polymorphims (SNPs) are the most common form of genetic variations and have been considered to have potentially powerful applications in association studies to identify genes underlying polygenic disease. The SNP genotyping must be high throughput, economical, and accurate. The method of SNP frequency prediction by automatic DNA sequencing was tested in the cSNPs of human N-acetyltransferase 2 (NAT2) and human NAD(P)H dehydrogenase, quinone 1 (NQO1), and a method of normalizing DNA concentration using computerized gel documentation system was developed. The DNA concentrations became similar when the area multiplied by density of each band was constant. The average difference of predicted allele frequencies and observed one in four SNPs was 0.045, and maximum difference was 0.08. Seven cSNPs were analyzed in NAT2: they were rs1799929, rs1799930, rs1799931, rs1208, rs2552, rs1801280, and rs1041983. Six cSNPs were analyzed in NQO1: they were rs1050873, rs1063556, rs10517, rs1804019, rs689453, and rs1800566. Among the 13 SNPs, 11 SNPs were transition, and two SNPs were transversion; seven were non-synonymous mutation, and six were synonymous mutation. cSNPs with more than 0.20 of minor allele frequencies were rs1041983, rs10517, and rs1800566.

Keyword

SNP; NAT2; NQO1; DNA pool

MeSH Terms

DNA*
Gene Frequency
Genetic Variation
Humans
Oxidoreductases*
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
DNA
Oxidoreductases