{"title":"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。","authors":"Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana","doi":"10.1080/03014460.2023.2180091","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong><i>Alu</i> 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.</p><p><strong>Aim: </strong>The objective of this study is to document the level and extent of genetic variation at 39 different <i>Alu</i> 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.</p><p><strong>Subjects and methods: </strong>DNA samples (<i>n</i> = 543) were analysed for 39 <i>Alu</i> insertion polymorphisms using specific primers and standard protocols. Data were analysed for population and forensic genetic parameters.</p><p><strong>Results: </strong>All studied <i>Alu</i>s 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.</p><p><strong>Conclusion: </strong>The analysed <i>Alu</i>s 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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genomic diversity and differentiation of <i>Alu</i> insertion polymorphisms in a native British and four South Asian migrant populations.\",\"authors\":\"Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana\",\"doi\":\"10.1080/03014460.2023.2180091\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong><i>Alu</i> 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.</p><p><strong>Aim: </strong>The objective of this study is to document the level and extent of genetic variation at 39 different <i>Alu</i> 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.</p><p><strong>Subjects and methods: </strong>DNA samples (<i>n</i> = 543) were analysed for 39 <i>Alu</i> insertion polymorphisms using specific primers and standard protocols. Data were analysed for population and forensic genetic parameters.</p><p><strong>Results: </strong>All studied <i>Alu</i>s 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.</p><p><strong>Conclusion: </strong>The analysed <i>Alu</i>s 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.</p>\",\"PeriodicalId\":50765,\"journal\":{\"name\":\"Annals of Human Biology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2023-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Human Biology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/03014460.2023.2180091\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ANTHROPOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Human Biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/03014460.2023.2180091","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ANTHROPOLOGY","Score":null,"Total":0}
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.
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.