Allele frequency and genotype distribution of polymorphisms within disease-related genes is influenced by ethnic population sub-structuring in Sudan
Allele frequency and genotype distribution of polymorphisms within disease-related genes is influenced by ethnic population sub-structuring in Sudan
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DOI：
10.1023/a:1024486716497
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发表时间：
2003-09-01
期刊：
影响因子：
1.5
通讯作者：
Ibrahim, ME
中科院分区：
文献类型：
--
作者：
Bereir, REH;Mohamed, HS;Ibrahim, ME
在来自苏丹的四个不同部落和种族背景的人群中，对位于疾病相关/致病基因内的四个单核苷酸多态性（SNP）和可变数量的串联重复（VNTR）多态性进行了分型。将基因型和等位基因频率与已发表和未发表的世界人口数据中的其他群体的基因型和等位基因频率进行比较。合并的苏丹样本符合哈迪-温伯格平衡（HWE）预期。然而，根据种族/语言群体的人口亚结构表明至少有两个 SNP 与 HWE 不同。四个 SNP 中的三个也注意到组间等位基因频率和基因型分布的差异。其他基因座在研究人群中均匀分布，其基因型频率与 HWE 预期一致。这些结果强调了多态性标记的群体间分层的重要性，以及基因座的进化历史和种族变异对 SNP 和其他多态性的一般分布的潜在影响。
Four single nucleotide polymorphisms (SNPs) and a variable number of tandem repeats (VNTR) polymorphism located within disease associated/causing genes were typed in four populations of different tribal and ethnic affiliation from the Sudan. The genotype and allele frequencies were compared with those of other groups from published and unpublished data of world populations. The combined Sudanese sample conformed with Hardy-Weinberg equilibrium (HWE) expectation. However, population sub-structuring according to ethnic/linguistic group indicated at least two SNPs in departure from HWE. Differences in allele frequencies and genotype distribution between groups was also noted in three of the four SNPs. The other loci were distributed homogeneously within the populations studied with genotype frequencies in agreement with HWE expectation. These results highlight the importance of inter-population stratification for polymorphic markers, as well as the potential influence of evolutionary history and ethnic variation of loci, in the general distribution of SNPs and other polymorphisms.