Rodney Okwasiimire, Rhona K Baingana, Dennis M Kasozi
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引用次数: 0
摘要
目的:酒精被乙醇脱氢酶(ADH)代谢为乙醛,随后被醛脱氢酶(ALDH)代谢为乙酸。ADH1B、ADH1C和ALDH2基因的单核苷酸多态性(snp)导致编码同工酶的单倍型,影响酒精中毒的发展。这些单倍型在乌干达的分布没有文献记载。本研究的目的是确定乌干达ADH1B、ADH1C和ALDH2基因的基因型、等位基因和单倍型频率。结果:用pcr -限制性片段长度多态性方法分析了250份样本的5个snp: ADH1B (rs1229984和rs2066702)、ADH1C (rs1693482和rs698)和ALDH2 (rs671)。快速代谢等位基因ADH1C*1、ADH1B*3和ADH1B*2的频率分别为49.6%、18.2%和0.2%。非保护性等位基因ADH1B*1和ADH1C*2的频率分别为81.6%和10.6%。新发现的等位基因ADH1C*new (Arg271Val349)由G at ADH1C rs1693482和G at ADH1C rs698组成,频率为39.8%。在鉴定的7种ADH1B- adh1c单倍型组合中,ADH1B*1- adh1c *1最为普遍(48.4%)。特别是ADH1B*1-ADH1C* new,频率第二高(25.2%)。我们的研究首次提供了乌干达人群中酒精代谢基因中新adh1b - adh1c单倍型的数据。
Novel haplotypes of genetic polymorphisms in alcohol metabolizing enzymes in Kampala, Uganda.
Objective: Alcohol is metabolized to acetaldehyde by alcohol dehydrogenases (ADH) and subsequently to acetate by aldehyde dehydrogenases (ALDH). Single nucleotide polymorphisms (SNPs) in ADH1B, ADH1C and ALDH2 genes lead to haplotypes encoding isozymes which influence development of alcoholism. The distribution of these haplotypes in Uganda has not been documented. The aim of this study was to determine genotype, allele, and haplotype frequencies of SNPs in ADH1B, ADH1C, and ALDH2 genes in Uganda.
Results: Five SNPs: ADH1B (rs1229984 and rs2066702), ADH1C (rs1693482 and rs698) and ALDH2 (rs671) were analyzed by PCR-restriction fragment length polymorphism assays in 250 samples. The frequencies of the fast-metabolizing alleles ADH1C*1, ADH1B*3, and ADH1B*2 were 49.6%, 18.2% and 0.2% respectively. The nonprotective allele ADH1B*1 had a high frequency of 81.6% and ADH1C*2 was 10.6%. A novel allele ADH1C*new (Arg271Val349) comprising G at ADH1C rs1693482and G at ADH1C rs698 was identified with a frequency of 39.8%. Of the seven ADH1B-ADH1C haplotype combinations identified, ADH1B*1-ADH1C*1 was the most prevalent (48.4%). Notably ADH1B*1-ADH1C* new, had the second highest frequency (25.2%). Our study provides the first data on novelADH1B-ADH1C haplotypes in alcohol metabolizing genes in the Ugandan population.
BMC Research NotesBiochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
3.60
自引率
0.00%
发文量
363
审稿时长
15 weeks
期刊介绍:
BMC Research Notes publishes scientifically valid research outputs that cannot be considered as full research or methodology articles. We support the research community across all scientific and clinical disciplines by providing an open access forum for sharing data and useful information; this includes, but is not limited to, updates to previous work, additions to established methods, short publications, null results, research proposals and data management plans.