Mastana S, Lee D, Singh P P, Singh M
Department of Human Sciences, Loughborough University, Loughborough, UK.
Ann Hum Biol. 2003 Sep-Oct;30(5):538-50. doi: 10.1080/0301446031000119593.
Short tandem repeats (STRs) and variable number of tandem repeats (VNTRs) have been used successfully in disease analysis and studies of human evolution and population genetic diversity. However DNA-based comprehensive population genetic studies of the East Midlands, England are limited.
To enlarge our understanding of genetic variation in the East Midlands, a study was conducted on five regional populations: north-west Derbyshire,north-east Derbyshire, south Derbyshire, Nottinghamshire and Leicestershire. Blood samples were collected from donors whose ancestors had lived in the region for at least three generations. Seven VNTRs (MSI (DIS7), MS31 (D7S21), MS43A (D12SII) and YNH24 (D2S44), DIS0, APOB, YNZ22 (D17S5)), six STRs (HumTHOI, HumVWA31A, HumF13AOl1, HumFESFPS, HumCSFIPO, HumTPOX) and six Alu insertion/deletion polymorphisms (TPA25, ACE, PV92, F13B, APO, DI) were analysed in approximately 500 individuals. Allele or bin frequencies were calculated using gene counting and fixed bin methods. The chi-square method and exact tests were used to assess Hardy-Weinberg equilibrium. Genetic distances were calculated using Nei's DA method and correspondence analysis was used to assess population affinities.
The overall pattern of allele frequencies was similar to many European and UK populations for a number of genetic systems. Overall heterogeneity was observed for five loci: MS43A, MS31, HumF13A0l, HumFESFPS and HumTHOI. Twenty-three of 190 pairwise population comparisons were also statistically significant at the 5% level. Average molecular genetic system heterozygosity was 1.5 times higher than observed with conventional blood group systems. GsT values for molecular systems were also higher than conventional systems (0.012 vs 0.005) and suggest a low to moderate level of differentiation.
The allele frequency spectrum and inter-population comparisons show that there is significant genetic variation in the five contiguous regional populations of the East Midlands. Some of this variation may be due to local geographical barriers, genetic drift and possibly the settlement patterns of Continental European invaders.
短串联重复序列（STRs）和可变数目串联重复序列（VNTRs）已成功应用于疾病分析以及人类进化和群体遗传多样性研究。然而，基于DNA的英格兰东米德兰兹地区全面群体遗传学研究却很有限。
为了更深入了解东米德兰兹地区的遗传变异情况，对五个地区人群进行了研究：德比郡西北部、德比郡东北部、德比郡南部、诺丁汉郡和莱斯特郡。从祖先至少在该地区生活了三代的捐赠者那里采集血液样本。对大约500名个体分析了7个VNTRs（MSI（DIS7）、MS31（D7S21）、MS43A（D12SII）和YNH24（D2S44）、DIS0、APOB、YNZ22（D17S5））、6个STRs（HumTHOI、HumVWA31A、HumF13AOl1、HumFESFPS、HumCSFIPO、HumTPOX）以及6个Alu插入/缺失多态性位点（TPA25、ACE、PV92、F13B、APO、DI）。使用基因计数法和固定分类法计算等位基因或分类频率。采用卡方检验和精确检验评估哈迪-温伯格平衡。使用内氏DA法计算遗传距离，并采用对应分析评估群体亲缘关系。
在许多遗传系统中，等位基因频率的总体模式与许多欧洲和英国人群相似。在五个位点观察到总体异质性：MS43A、MS31、HumF13A0l、HumFESFPS和HumTHOI。在190对群体比较中，有23对在5%水平上也具有统计学显著性。平均分子遗传系统杂合度比传统血型系统观察到的高1.5倍。分子系统的GsT值也高于传统系统（0.012对0.005），表明分化程度为低到中等水平。
等位基因频率谱和群体间比较表明，东米德兰兹五个相邻地区人群存在显著的遗传变异。其中一些变异可能是由于当地地理屏障、遗传漂变以及欧洲大陆入侵者的定居模式所致。
