Novel alleles of 31-bp VNTR polymorphism in the human cystathionine β-synthase (CBS) gene were detected in healthy Asians

• Published in: Journal of genetics Vol. 89; no. 4; pp. 449 - 455
• Main Authors: Gan, Yik-Yuen, Chen, Chuan-Fei
• Format: Journal Article
• Language: English
• Published: India Springer-Verlag 01.12.2010
• Subjects: Alleles; Animal Genetics and Genomics; Asian Continental Ancestry Group - genetics; Asians; Base Sequence; Biomedical and Life Sciences; cystathionine; cystathionine beta-synthase; Cystathionine beta-Synthase - genetics; DNA - genetics; DNA - isolation & purification; Ethnic Groups - genetics; European Continental Ancestry Group - genetics; Evolutionary Biology; Gene Frequency; Genotype; heterozygosity; Heterozygote; Humans; Life Sciences; Microbial Genetics and Genomics; minisatellite repeats; Minisatellite Repeats - genetics; Plant Genetics and Genomics; Polymorphism, Genetic; Research Article; sequence analysis; Sequence Analysis, DNA; Whites; Caucasian; human genetics; variable number of tandem repeats (VNTR); cystathionine β-synthase (CBS); Indo-Caucasoid
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-010-0063-5

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.