Characterization of human control region sequences of the African American SWGDAM forensic mtDNA data set
Characterization of human control region sequences of the African American SWGDAM forensic mtDNA data set
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DOI：
10.1016/j.forsciint.2004.06.001
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发表时间：
2005-03-10
影响因子：
2.2
通讯作者：
Budowle, B
中科院分区：
文献类型：
--
作者：
Allard, MW;Polanskey, D;Budowle, B
DNA分析方法科学工作组（SWGDAM）的线粒体DNA（mtDNA）人口数据集被用来推断从证据样本中获得的控制区mtDNA图谱和用于识别失踪人员的图谱的相对稀有性。在这项研究中，非裔美国人的单倍群模式的SWGDAM数据进行了分析，在系统发育的背景下，以确定相关的单核苷酸多态性（SNP），并描述单倍群分布的非洲人在这些数据集中观察到。在非裔美国人数据序列（n = 1148）中观察到超过200个SNP（n = 217）。这些SNP在系统发育树中的变化范围为1-39个，其中位点152和16519是最可变的。树上的一个角色平均有5.8个变化。观察到的变异最大的位点（每个位点有19个或更多变化）包括16093、16129、16189、16311、16362、16519、146、150、152、189和195。这些快速变化的位点与其他已发表的分析一致。在非裔美国人数据集中，仅需要34个SNP来识别包含10个或更多个体的所有聚类。结果表明，非裔美国人SWGDAM mtDNA数据集包含的变异与非洲大陆人群中描述的一致。在非洲人群中观察到的18个单倍群中有13个被观察到，包括：L1 a，L1 b，L1 c，L2 a，L2 b，L2 c，L3 b，L3 d，L3 e1，L3 e2，L3 e3，L3 e4和L3 f。单倍群L2 a是非裔美国人数据集中最常见的聚类（18.8%）。在非裔美国人数据集中，下一个最常见的单倍群包括聚类L1 c（11.0%），L1 b（9.1%），L3 e2（9.0%）和L3 b（8.1%）。在非裔美国人中观察到的大约8%的单倍群在欧洲高加索人或东亚人中很常见;其中H（n = 32）、J（n = 4）、K（n = 5）、T（n = 2）、U5（n = 6）、U6（n = 9，也已知来自北非）、A（n = 12）、B（n = 7）、C（n = 4）和M（n = 16）。欧洲高加索和东亚单倍群是由于最近祖先在欧亚大陆西部和撒哈拉以南非洲的个体之间的混合而产生的。这些相关数据集的遗传特征与其他已发表的mtDNA遗传变异完全一致。在该数据集中观察到的序列多样性使其成为法医应用的有价值的工具。(C)2004年由Elsevier爱尔兰有限公司出版
The scientific working group on DNA analysis Methods (SWGDAM) mitochondrial DNA (mtDNA) population data set is used to infer the relative rarity of control region mtDNA profiles obtained from evidence samples and of profiles used for identification of missing persons. In this study, the African American haplogroup patterns in the SWGDAM data were analyzed in a phylogenetic context to determine relevant single nucleotide polymorphisms (SNPs) and to describe haplogroup distributions for Africans observed in these data sets. Over 200 SNPs (n = 217) were observed in the African American data ser (n = 1148). These SNPs ranged from having 1-39 changes in the phylogenetic tree, with sites 152 and 16519 being the most variable. On average there were 5.8 changes for a character on the tree. The most variable sites (with 19 or more changes each) observed included 16093, 16129, 16189, 16311, 16362, 16519, 146, 150, 152, 189, and 195. These rapidly changing sites are consistent with other published analyses. Only 34 SNPs are needed to identify all clusters containing 10 or more individuals in the African American data set. The results show that the African American SWGDAM mtDNA data set contains variation consistent with that described in continental African populations. Thirteen of the 18 haplogroups previously observed in African populations were observed and include: L1a, L1b, L1c, L2a, L2b, L2c, L3b, L3d, L3e1, L3e2, L3e3, L3e4 and L3f. Haplogroup L2a is the most commonly observed cluster (18.8%) in the African American data set. The next most common haplogroups in the African American data set include the clusters L1c (11.0%), L1b (9.1%), L3e2 (9.0%) and L3b (8.1%). Approximately 8% of the haplogroups observed within African Americans were common in European Caucasians or East Asians; these were H (n = 32), J (n = 4), K (n = 5), T (n = 2), U5 (n = 6), U6 (n = 9 also known from North Africa), A (n = 12), B (n = 7), C (n = 4), and M (it = 16), respectively. The European Caucasian and East Asian haplogroups are expected due to admixture between individuals with recent ancestry in Western Eurasia and sub-Saharan Africa. The genetic characterization of these relevant data sets is fully consistent with other published mtDNA genetic variation. The sequence diversity observed in this data set makes it a valuable tool for forensic applications. (C) 2004 Published by Elsevier Ireland Ltd.