Picornell A, Giménez P, Castro J A, Ramon M M
Institut Universitari d'Investigacions en Ciències de la Salut (IUNICS) i Laboratori de Genètica, Departament de Biologia, Universitat de les Illes Balears, Carretera de Valldemossa, km 7.5, Palma de Mallorca, Balears, 07122, Spain.
Int J Legal Med. 2006 Sep;120(5):271-81. doi: 10.1007/s00414-006-0083-0. Epub 2006 May 18.
Sequence analysis of HVRI and HVRII mitochondrial DNA was carried out on 107 Jewish samples from Ashkenazi, Oriental, North African, and Sephardic origins. Control region sequences were assigned to a haplogroup by means of the analysis of the RFLP motif -7025 AluI or by using sequence motifs. A total of 88 different haplotypes were observed with a lower incidence of unique haplotypes (68.2%) than in other populations. Four individuals with one position of sequence heteroplasmy at nucleotides 16093, 16134, 16169, and 235, respectively, were detected. The mean pairwise difference in the Jewish population was 9.7 nucleotides. The gene diversity was 0.996, and the random match probability was 1.3%. When the data were compared with the autosomal and Y-chromosome markers previously studied in these populations, sex-specific differences could be observed in the Jewish populations. This fact must be taken into account for choosing suitable databases to correctly weigh the value of the evidence of a mtDNA and/or Y profile match.
对107份来自阿什肯纳兹、东方、北非和西班牙裔犹太血统的样本进行了线粒体DNA高变区I（HVRI）和高变区II（HVRII）的序列分析。通过分析RFLP基序-7025 AluI或使用序列基序，将控制区序列指定到一个单倍群。共观察到88种不同的单倍型，独特单倍型的发生率（68.2%）低于其他人群。检测到4名个体，其核苷酸位置16093、16134、16169和235分别存在一个序列异质性位点。犹太人群体中的平均成对差异为9.7个核苷酸。基因多样性为0.996，随机匹配概率为1.3%。当将这些数据与之前在这些人群中研究的常染色体和Y染色体标记进行比较时，在犹太人群体中可以观察到性别特异性差异。在选择合适的数据库以正确权衡线粒体DNA和/或Y染色体图谱匹配证据的价值时，必须考虑这一事实。
