MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population
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DOI：
10.1038/sj.ejhg.5201156
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发表时间：
2004-05-01
影响因子：
5.2
通讯作者：
Skorecki, K
中科院分区：
文献类型：
--
作者：
Behar, DM;Hammer, MF;Skorecki, K
自然选择和遗传漂变的相对作用作为20多个德系犹太人疾病等位基因高频率的解释仍然存在争议。为了测试德系犹太人人口的孕产妇瓶颈的影响，我们进行了广泛的分析线粒体DNA（mtDNA）高变段1（HVS-1）序列和限制性位点多态性在565德系犹太人来自欧洲不同地区。这些模式的变化进行了比较，与5个近东（n = 327）和10个主机欧洲（n = 849）非犹太人口。只有四个mtDNA单倍群（Hgs）（根据诊断编码区RFLP和HVS-1序列变异定义）占德系犹太人mtDNA变异的70%。虽然有几个德系犹太人的mtDNA Hgs似乎来自近东，但也有证据表明，来自欧洲非犹太人的宿主群体的基因渗入水平较低。HVS-1序列分析显示，在其他人群中罕见或不存在的德系犹太人单倍型的频率增加，而德系犹太人样本中的单倍型数量减少。这些多样性模式为德系犹太人历史上长期的低有效规模提供了证据。这些数据最符合早期瓶颈的模型（类似于100代以前），可能对应于祖先德系犹太人在近东或欧洲的最初迁移。一个遗传瓶颈，其次是最近的人口快速增长的现象可能产生的条件，导致许多遗传疾病等位基因的高频率在德系犹太人的人口。
The relative roles of natural selection and accentuated genetic drift as explanations for the high frequency of more than 20 Ashkenazi Jewish disease alleles remain controversial. To test for the effects of a maternal bottleneck on the Ashkenazi Jewish population, we performed an extensive analysis of mitochondrial DNA ( mtDNA) hypervariable segment 1 (HVS-1) sequence and restriction site polymorphisms in 565 Ashkenazi Jews from different parts of Europe. These patterns of variation were compared with those of five Near Eastern (n = 327) and 10 host European (n = 849) non-Jewish populations. Only four mtDNA haplogroups (Hgs) ( defined on the basis of diagnostic coding region RFLPs and HVS-1 sequence variants) account for similar to70% of Ashkenazi mtDNA variation. While several Ashkenazi Jewish mtDNA Hgs appear to derive from the Near East, there is also evidence for a low level of introgression from host European non-Jewish populations. HVS-1 sequence analysis revealed increased frequencies of Ashkenazi Jewish haplotypes that are rare or absent in other populations, and a reduced number of singletons in the Ashkenazi Jewish sample. These diversity patterns provide evidence for a prolonged period of low effective size in the history of the Ashkenazi population. The data best fit a model of an early bottleneck (similar to100 generations ago), perhaps corresponding to initial migrations of ancestral Ashkenazim in the Near East or to Europe. A genetic bottleneck followed by the recent phenomenon of rapid population growth are likely to have produced the conditions that led to the high frequency of many genetic disease alleles in the Ashkenazi population.