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摘要
Background: The culture of contemporary Sudanese tribes is not homogeneous. One of the three main tribes in northern Sudan is the Shagia tribe. This study is part of the large-scale research project to anthropologically and genetically describe the Shagia population, who inhabited three villages in an isolated region of the Fourth Nile Cataract. This population is extremely homogeneous as a result of geographical, genetic and cultural isolation. Aim: The aim of the study was to analyse the frequency of two single nucleotide polymorphisms (SNPs), C/T-13910 and G/C-14010, within the isolated population. These SNPs are closely associated with lactase persistence. In addition, this study has correlated the SNPs with anthropometric measurements. Subjects and methods: Buccal swabs were collected from 126 subjects. The DNA was extracted and the occurrence of the two alleles at each SNP was analysed using real-time PCR. An anthropometric examination of 64 adult individuals was used for an analysis of body measurements and proportions. Results: At the C/T-13910 SNP, the CT genotype frequency was 3.2%, whilst 96.8% of individuals were homozygous for the C allele. The presence of the T allele showed a strong association with body mass index (BMI) and waist circumference. At the G/C-14010 locus, all the examined subjects were homozygous for the G allele. Conclusions: The C/T-13910 polymorphism correlated with anthropometric measurements. Identification of the T allele of C/T-13910, in this isolated tribe, may be linked to their previously nomadic lifestyle and could provide important information on the ancestry of the tribe and the admixture of European genes.
- 出版日期2014-10
