title: Novel alleles of 31-bp VNTR polymorphism in the human cystathionine β-synthase (CBS) gene were detected in healthy Asians.
abstract: A 31-bp variable number of tandem repeats (VNTR) polymorphism of the cystathionine β-synthase (CBS) gene was earlier reported in Caucasians of predominantly European descent and Indo-Caucasoid populations. We report here for the first time, the detection of allele 20, which was absent in Caucasian and Indo-Caucasoid populations, as a common allele present in Singaporean Chinese (6.25%), Indians (11.7%), and Malays (11.5%). Hence, allele 20 might be a specific allele for Asian populations. A relatively common allele 19 found in the Caucasian and Indo-Caucasoid populations (10.4%-10.6%) was absent in the Asian samples of this study. Therefore, allele 19 might be a specific allele for the Caucasian populations. A novel and rare allele 13, which was not reported before in the Caucasian and Indo-Caucasoid populations, was found in 0.5% of Singaporean Chinese as genotype 13/17 heterozygotes. The presence of alleles 13 and 20 were verified by DNA sequencing. There were five new genotypes (13/17, 16/20, 17/20, 18/20 and 20/20) not reported before in the Caucasian and Indo-Caucasoid populations, detected in this study. Nine genotypes (15/18, 16/18, 16/21, 17/19, 18/19, 18/21, 19/19, 19/21 and 21/21) which were present in the Caucasian and/or Indo-Caucasoid populations were absent in this study. Our results showed that CBS 31-bp VNTR polymorphism has a distinct genetic difference in allele and genotype frequencies between the European Caucasians, Indo-Caucasoid and Asian populations.
authors.affiliation: Natural Sciences and Science Education, National Institute of Education, Nanyang Technological University,1 Nanyang Walk, Singapore 637616, Republic of Singapore. yikyuen.gan@nie.edu.sg
authors.forename: Yik-Yuen
authors.initials: YY
authors.lastname: Gan
authors.forename: Chuan-Fei
authors.initials: CF
authors.lastname: Chen
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: D004247:DNA; D003541:Cystathionine beta-Synthase