Annals of Human Biology最新文献

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Body fat and muscle in relation to heart rate variability in young-to-middle age men: a cross sectional study. 中青年男性体脂和肌肉与心率变异性的关系:一项横断面研究。
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2180089
Selma Cvijetic, Jelena Macan, Dario Boschiero, Jasminka Z Ilich
{"title":"Body fat and muscle in relation to heart rate variability in young-to-middle age men: a cross sectional study.","authors":"Selma Cvijetic,&nbsp;Jelena Macan,&nbsp;Dario Boschiero,&nbsp;Jasminka Z Ilich","doi":"10.1080/03014460.2023.2180089","DOIUrl":"https://doi.org/10.1080/03014460.2023.2180089","url":null,"abstract":"<p><strong>Background: </strong>While obesity is recognisably associated with changes in heart rate variability (HRV), the association between skeletal muscle mass and HRV is less clear.</p><p><strong>Aims: </strong>In this cross sectional study, we analysed the association of body fat (four parameters) and muscle mass (five parameters) with indicators of HRV activity.</p><p><strong>Subjects and methods: </strong>Assessment of body composition and HRV was performed in <i>n</i> = 180 young-to-middle age healthy men exposed to high occupational physical activity, using the multi-frequency bioelectrical impedance device and the PPG-StressFlow® HRV photoplethysmography device, respectively.</p><p><strong>Results: </strong>Mean values of parameters of fat tissue were above normal/reference values. Muscle tissue indicators were higher or within the reference ranges. Fat tissue parameters were significantly higher in participants with lower parasympathetic nervous system (PNS) indicators. Weight-adjusted skeletal muscle index (wSMI) was significantly lower in men with reduced PNS parameters. Fat tissue parameters were negatively correlated with PNS parameters, while wSMI was positively correlated with PNS parameters.</p><p><strong>Conclusions: </strong>Participants with higher fat mass and lower muscle mass had poorer parasympathetic activity. Since mean values of HRV parameters indicated mild parasympathetic dominance, we conclude that physical activity and consequently good muscle mass potentially compensated for the negative interaction between fat tissue and HRV.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"108-116"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9075335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Does stunting still matter in high-income countries? 在高收入国家,发育迟缓仍然重要吗?
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2216022
Joseph Freer, Joanna Orr, Robert Walton, Helen L Storr, Leo Dunkel, Andrew J Prendergast
{"title":"Does stunting still matter in high-income countries?","authors":"Joseph Freer,&nbsp;Joanna Orr,&nbsp;Robert Walton,&nbsp;Helen L Storr,&nbsp;Leo Dunkel,&nbsp;Andrew J Prendergast","doi":"10.1080/03014460.2023.2216022","DOIUrl":"https://doi.org/10.1080/03014460.2023.2216022","url":null,"abstract":"","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"267-273"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9692875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Evaluation and prediction of individual growth trajectories. 个人成长轨迹的评估与预测。
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2190619
Stef van Buuren
{"title":"Evaluation and prediction of individual growth trajectories.","authors":"Stef van Buuren","doi":"10.1080/03014460.2023.2190619","DOIUrl":"https://doi.org/10.1080/03014460.2023.2190619","url":null,"abstract":"<p><strong>Background: </strong>Conventional growth charts offer limited guidance to track individual growth.</p><p><strong>Aim: </strong>To explore new approaches to improve the evaluation and prediction of individual growth trajectories.</p><p><strong>Subjects and methods: </strong>We generalise the conditional SDS gain to multiple historical measurements, using the Cole correlation model to find correlations at exact ages, the sweep operator to find regression weights and a specified longitudinal reference. We explain the various steps of the methodology and validate and demonstrate the method using empirical data from the SMOCC study with 1985 children measured during ten visits at ages 0-2 years.</p><p><strong>Results: </strong>The method performs according to statistical theory. We apply the method to estimate the referral rates for a given screening policy. We visualise the child's trajectory as an <i>adaptive growth chart</i> featuring two new graphical elements: <i>amplitude</i> (for evaluation) and <i>flag</i> (for prediction). The relevant calculations take about 1 millisecond per child.</p><p><strong>Conclusion: </strong>Longitudinal references capture the dynamic nature of child growth. The adaptive growth chart for individual monitoring works with exact ages, corrects for regression to the mean, has a known distribution at any pair of ages and is fast. We recommend the method for evaluating and predicting individual child growth.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"247-257"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9751507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Genetic polymorphism and forensic efficiency of 21 autosomal STR loci from Shandong Han population in Northern China. 中国北方山东汉族21个常染色体STR位点的遗传多态性和司法效率
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224057
Qi Liu, Yawen Han, Xiudi Hou, Shuquan Zhao, Dan Wang, Shuyue Li, Yequan Wang
{"title":"Genetic polymorphism and forensic efficiency of 21 autosomal STR loci from Shandong Han population in Northern China.","authors":"Qi Liu,&nbsp;Yawen Han,&nbsp;Xiudi Hou,&nbsp;Shuquan Zhao,&nbsp;Dan Wang,&nbsp;Shuyue Li,&nbsp;Yequan Wang","doi":"10.1080/03014460.2023.2224057","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224057","url":null,"abstract":"<p><strong>Background: </strong>Highly polymorphic autosomal STR loci are useful for understanding population structure better and for forensic application, however the non-CODIS STR loci in the Han population of Shandong, located in Northern China, are not well-characterised.</p><p><strong>Aim: </strong>To investigate population genetic polymorphism and forensic efficiency of 21 autosomal STR loci from the Shandong Han population in Northern China and reveal the genetic relationships with other populations both at home and abroad.</p><p><strong>Subjects and methods: </strong>In this study, population genetic data of 21 autosomal STR loci included in the Goldeneye DNA ID 22NC Kit that includes four CODIS loci and 17 non-CODIS loci were determined for 523 unrelated Han individuals in Shandong.</p><p><strong>Results: </strong>Significant deviations from Hardy-Weinberg equilibrium were not observed. A total of 233 alleles were detected with allele frequencies ranging from 0.0010 to 0.3728. The combined power of discrimination was 0.99999999999999999999999990011134, and the combined power of exclusion was 0.99999999788131. Furthermore, in an analysis of population differentiation Nei's standard genetic distance and multidimensional scaling analysis, which were conducted based on the overlapping 15 STR loci, revealed that the Shandong Han population was most closely related to populations in close geographic proximity.</p><p><strong>Conclusions: </strong>This study demonstrated that the 21 autosomal STR loci included in the Goldeneye<sup>TM</sup> DNA ID 22NC system are highly polymorphic and suitable for forensic identification and paternity testing in the Shandong Han population. Additionally, the present results enrich the population genetic database.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"341-344"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9868863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic polymorphism of 27 Y-STR loci in Kazakh populations from Eastern Kazakhstan. 哈萨克斯坦东部哈萨克人群27个Y-STR基因座的遗传多态性
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2170465
Yeldar Ashirbekov, Anastassiya Nogay, Arman Abaildayev, Aigul Zhunussova, Zhaxylyk Sabitov, Maxat Zhabagin
{"title":"Genetic polymorphism of 27 Y-STR loci in Kazakh populations from Eastern Kazakhstan.","authors":"Yeldar Ashirbekov,&nbsp;Anastassiya Nogay,&nbsp;Arman Abaildayev,&nbsp;Aigul Zhunussova,&nbsp;Zhaxylyk Sabitov,&nbsp;Maxat Zhabagin","doi":"10.1080/03014460.2023.2170465","DOIUrl":"https://doi.org/10.1080/03014460.2023.2170465","url":null,"abstract":"<p><strong>Background: </strong>The establishment of a national haplotype database is important for forensic and genetic applications and requires studying genetic polymorphisms at Y-STR sites. However, the genetic structure of the Eastern Kazakhstan population is poorly characterised.</p><p><strong>Aim: </strong>To investigate the genetic polymorphisms of 27 Y-STR loci in the Kazakh population from Eastern Kazakhstan and analyse the population genetic relationships of the Eastern Kazakhs with other populations.</p><p><strong>Subjects and methods: </strong>The Yfiler Plus kit was utilised to genotype 246 healthy, unrelated males from Eastern Kazakhstan. Based on the raw data, haplotype and allele frequencies along with forensic parameters were calculated, and an MDS plot was constructed.</p><p><strong>Results: </strong>A total of 207 haplotypes were detected, of which 186 were unique. The haplotype diversity and discrimination capacity were 0.997 and 0.841, respectively. Population comparisons showed that Eastern Kazakhs have close genetic relationships with Kazakhs from Xinjiang, China. At the same time, a difference was found between the studied population and the previous one in the same part of Kazakhstan.</p><p><strong>Conclusions: </strong>The obtained haplotypes will help to expand the Kazakhstan Y-chromosome reference database and will be useful for future genetic research and forensic applications.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"48-51"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10862922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Genetic diversity of 23 STR loci of the Guizhou Tujia ethnic minority and the phylogenetic relationships with 22 other populations. 贵州土家族23个STR基因座的遗传多样性及其与其他22个人群的系统发育关系
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224971
Shuhua Li, Siyu Chai, Limei Yu, Tao Zhang, Zulin Liu, Yinlei Lei, Kaiqin Chen, Hao Zhang, YanFei Liu, Pengyu Chen
{"title":"Genetic diversity of 23 STR loci of the Guizhou Tujia ethnic minority and the phylogenetic relationships with 22 other populations.","authors":"Shuhua Li,&nbsp;Siyu Chai,&nbsp;Limei Yu,&nbsp;Tao Zhang,&nbsp;Zulin Liu,&nbsp;Yinlei Lei,&nbsp;Kaiqin Chen,&nbsp;Hao Zhang,&nbsp;YanFei Liu,&nbsp;Pengyu Chen","doi":"10.1080/03014460.2023.2224971","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224971","url":null,"abstract":"<p><strong>Background: </strong>Short tandem repeats (STR) are highly polymorphic DNA markers utilised in forensic personal identification and human population genetic research. Guizhou Tujia is one of the ancient minority groups in southwest China, however, the population has not been studied using the highly discriminating 23 STR Huaxia Platinum Kit.</p><p><strong>Aim: </strong>To obtain genetic data from 23 autosomal STRs in Guizhou Tujia and examine the population's relationship with others.</p><p><strong>Subjects and methods: </strong>A total of 480 individuals from the Guizhou Tujia population were analysed using 23 STR loci of Huaxia Platinum Kit. Allele frequencies and forensic parameters were estimated. Population genetic relationships were calculated by Nei's genetic distances and visualised using a variety of biostatistical methods.</p><p><strong>Results: </strong>A total of 264 alleles were found, with allelic frequencies ranging from 0.0010 to 0.5104. The combined discrimination power (CDP) and the combined probability of paternity (CPE) of 23 STR loci were 0.9999999999999999999999999996 and 0.999999999710422, respectively. Guizhou Tujia showed closer genetic relationships with Hubei Tujia, Guizhou Gelao, and Guizhou Miao than with other populations.</p><p><strong>Conclusion: </strong>We first obtained the population genetic data of Guizhou Tujia using the 23 STR system and demonstrated its value in forensic applications. Comprehensive population comparisons showed an evident genetic affinity pattern between populations that are geographically, ethnically and linguistically related.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"345-350"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9816800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diversity in matrilineages among the Jomon individuals of Japan. 日本绳纹人母系的多样性。
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224060
Fuzuki Mizuno, Yasuhiro Taniguchi, Osamu Kondo, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda
{"title":"Diversity in matrilineages among the Jomon individuals of Japan.","authors":"Fuzuki Mizuno,&nbsp;Yasuhiro Taniguchi,&nbsp;Osamu Kondo,&nbsp;Michiko Hayashi,&nbsp;Kunihiko Kurosaki,&nbsp;Shintaroh Ueda","doi":"10.1080/03014460.2023.2224060","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224060","url":null,"abstract":"<p><strong>Background: </strong>The Jomon period of Japan is characterised by a unique combination of sedentary and hunting/gathering lifestyles, spanning for more than 10,000 years from the final Pleistocene to the Holocene. The transition from the preceding Palaeolithic period to the Jomon period is known to have begun with the appearance of pottery usage. However, knowledge of the genetic background of the Jomon people is still limited.</p><p><strong>Aim: </strong>We aimed to determine the population-scale complete mitogenome sequences of the Initial Jomon human remains and compare the occurrence of mitochondrial haplogroups in the Jomon period from temporal and regional perspectives.</p><p><strong>Subjects and methods: </strong>For human remains dated to 8200-8600 cal BP, we determined their complete mitogenome sequences using target enrichment-coupled next-generation sequencing.</p><p><strong>Results: </strong>We successfully obtained the complete mitogenome sequences with high depth of coverage and high concordance on consensus sequences. These sequences differed by more than three bases each, except for two individuals having completely identical sequences. Co-existence of individuals with haplogroups N9b and M7a was first observed at the same archaeological site from the Initial Jomon period.</p><p><strong>Conclusion: </strong>The genetic diversity within the population was not found to be low even in the Initial Jomon period.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"324-331"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9816805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New hominin dental remains from the ∼2.04-1.95 Ma Drimolen Main Quarry, South Africa. 约2.04-1.95年的新人类牙齿遗骸 马德里莫伦主采石场,南非。
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-09 DOI: 10.1080/03014460.2023.2261849
A B Leece, J M Martin, S Baker, C Wilson, D S Strait, G T Schwartz, A I R Herries
{"title":"New hominin dental remains from the ∼2.04-1.95 Ma Drimolen Main Quarry, South Africa.","authors":"A B Leece,&nbsp;J M Martin,&nbsp;S Baker,&nbsp;C Wilson,&nbsp;D S Strait,&nbsp;G T Schwartz,&nbsp;A I R Herries","doi":"10.1080/03014460.2023.2261849","DOIUrl":"10.1080/03014460.2023.2261849","url":null,"abstract":"<p><strong>Background: </strong>The Drimolen Palaeocave site is situated within the UNESCO Fossil Hominid Sites of South Africa World Heritage Area and has yielded numerous hominin fossils since its discovery in 1992. Most of these fossils are represented by isolated dental elements, which have been attributed to either of two distinct hominin genera, <i>Paranthropus</i> and <i>Homo.</i></p><p><strong>Aim: </strong>This paper provides morphological descriptions for a further 19 specimens that have been recovered from the ∼2.04-1.95 Ma Drimolen Main Quarry (DMQ) deposits since 2008. This paper also discusses the two primary hypotheses used to explain <i>Paranthropus robustus</i> variation: sexual dimorphism, and micro-evolution within a lineage.</p><p><strong>Subjects and methods: </strong>These 19 fossils are represented by 47 dental elements and expand the sample of DMQ early <i>Homo</i> from 13 to 15, and the sample of <i>Paranthropus robustus</i> from 69 to 84.</p><p><strong>Results: </strong>The evidence presented in this paper was found to be inconsistent with the sexual dimorphism hypothesis.</p><p><strong>Conclusion: </strong>Some support was found for the micro-evolution hypothesis.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"407-427"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41163011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polymorphisms in PI3K/AKT genes and gene‑smoking interaction are associated with susceptibility to tuberculosis. PI3K/AKT 基因的多态性和基因与吸烟的相互作用与结核病的易感性有关。
IF 1.7 4区 医学
Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-12-20 DOI: 10.1080/03014460.2023.2288008
Chunli Wu, Huixia Liu, Ying Lin, Rongjing An, Mian Wang, Hua Zhong, Hengzhong Yi, Qiaozhi Wang, Hongzhuan Tan, Lizhang Chen, Jing Deng, Mengshi Chen
{"title":"Polymorphisms in <i>PI3K/AKT</i> genes and gene‑smoking interaction are associated with susceptibility to tuberculosis.","authors":"Chunli Wu, Huixia Liu, Ying Lin, Rongjing An, Mian Wang, Hua Zhong, Hengzhong Yi, Qiaozhi Wang, Hongzhuan Tan, Lizhang Chen, Jing Deng, Mengshi Chen","doi":"10.1080/03014460.2023.2288008","DOIUrl":"10.1080/03014460.2023.2288008","url":null,"abstract":"<p><strong>Background: </strong>Phosphatidylinositol 3-kinase (PI3K) and protein kinase B (AKT) are involved in the clearance of <i>Mycobacterium tuberculosis</i> (MTB) by macrophages.</p><p><strong>Aim: </strong>This study aimed to investigate the effects of polymorphisms in the <i>PI3K/AKT</i> genes and the gene-smoking interaction on susceptibility to TB.</p><p><strong>Methods: </strong>This case-control study used stratified sampling to randomly select 503 TB patients and 494 control subjects. Logistic regression analysis was used to determine the association between the polymorphisms and TB. Simultaneously, the marginal structure linear dominance model was used to estimate the gene-smoking interaction.</p><p><strong>Results: </strong>Genotypes GA (OR 1.562), AA (OR 2.282), and GA + AA (OR 1.650) at rs3730089 of the <i>PI3KR1</i> gene were significantly associated with the risk to develop TB. Genotypes AG (OR 1.460), GG (OR 2.785), and AG + GG (OR 1.622) at rs1130233 of the <i>AKT1</i> gene were significantly associated with the risk to develop TB. In addition, the relative excess risk of interaction (RERI) between rs3730089 and smoking was 0.9608 (95% CI: 0.5959, 1.3256, <i>p</i> < 0.05), which suggests a positive interaction.</p><p><strong>Conclusion: </strong>We conclude that rs3730089 and rs1130233 are associated with susceptibility to TB, and there was positive interaction between rs3730089 and smoking on susceptibility to TB.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"472-479"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138813083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genomic diversity and differentiation of Alu insertion polymorphisms in a native British and four South Asian migrant populations. 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 1.7 4区 医学
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
{"title":"Genomic diversity and differentiation of <i>Alu</i> insertion polymorphisms in a native British and four South Asian migrant populations.","authors":"Rebekah Beaumont,&nbsp;Liz Akam,&nbsp;Puneetpal Singh,&nbsp;Jasvinder Singh Bhatti,&nbsp;Sarabjit Mastana","doi":"10.1080/03014460.2023.2180091","DOIUrl":"https://doi.org/10.1080/03014460.2023.2180091","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":"50 1","pages":"117-122"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9114522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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