英国本土和四个南亚移民人群中Alu插入多态性的基因组多样性和分化。

IF 1.2 4区 医学 Q2 ANTHROPOLOGY Annals of Human Biology Pub Date : 2023-02-01 DOI:10.1080/03014460.2023.2180091
Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana
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引用次数: 0

摘要

背景:Alu插入是双等位基因和灵长类特异性的,这使它们成为研究遗传变异、迁移模式、法医分析、父权鉴定和进化遗产的有用标记;然而,具体的人口研究是有限的。目的:本研究的目的是记录来自英国东米德兰地区5个人群(英国人、印度旁遮普人、印度古吉拉特人、巴基斯坦人和孟加拉国人)的39个不同Alu位点的遗传变异水平和程度。关于移民人口的遗传数据目前有限。研究对象和方法:采用特定引物和标准方案对543份DNA样本进行39个Alu插入多态性分析。对数据进行种群和法医遗传参数分析。结果:所有研究的Alus在英国白人群体中都是多态的,而南亚移民群体中有不同数量的单态位点。英国样本的杂合度最高,匹配概率最低,而孟加拉国样本的杂合度最低,匹配概率较高。结论:所分析的Alus插入位点(TPA25、Ya5NBC123、Ya5NBC182、Ya5NBC241和Ya5NBC242)在移民群体中具有高度多态性和多变性。这些基因座可用于群体基因组和分化研究。
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Genomic diversity and differentiation of Alu insertion polymorphisms in a native British and four South Asian migrant populations.

Background: Alu insertions are bi-allelic and primate-specific, this makes them a useful marker for studying genetic variation, migration patterns, forensic analyses, paternity, and evolutionary heritage; however, specific population studies are limited.

Aim: The objective of this study is to document the level and extent of genetic variation at 39 different Alu loci in five populations (British, Indian Punjabi, Indian Gujarati, Pakistani, and Bangladeshi) from the East Midlands region of the UK. Genetic data on migrant populations is currently limited.

Subjects and methods: DNA samples (n = 543) were analysed for 39 Alu insertion polymorphisms using specific primers and standard protocols. Data were analysed for population and forensic genetic parameters.

Results: All studied Alus were polymorphic in the British White population while South Asian migrant populations had a variable number of loci which were monomorphic. Highest heterozygosities and lowest match probabilities were observed in the British sample, while the Bangladeshi sample had the lowest heterozygosity and higher match probability.

Conclusion: The analysed Alus insertions (TPA25, Ya5NBC123, Ya5NBC182, Ya5NBC241, and Ya5NBC242) are highly polymorphic and variable among migrant populations. These loci could be useful for population genomic and differentiation studies.

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来源期刊
Annals of Human Biology
Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生
CiteScore
3.40
自引率
5.90%
发文量
46
审稿时长
1 months
期刊介绍: Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.
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