Graven L, Passarino G, Semino O, Boursot P, Santachiara-Benerecetti S, Langaney A, Excoffier L
Département d'Anthropologie, Université de Genève; Switzerland.
Mol Biol Evol. 1995 Mar;12(2):334-45. doi: 10.1093/oxfordjournals.molbev.a040206.
We present here the first comparative analysis at the population level between Restriction Fragment Length Polymorphism (RFLP) and control region sequence polymorphism in a large and homogeneous Senegalese Mandenka sample. Eleven RFLP haplotypes and 60 different sequences are found in 119 individuals, revealing that a very high level of mtDNA diversity can be maintained in a small population. A sequence neighbor-joining tree and an analysis of molecular variance show that sequences associated with a given restriction haplotype are evolutionarily highly correlated: sequencing generally leads to the subtyping of RFLP haplotypes. Evolutionary relationships among RFLP haplotypes inferred from restriction site differences are in good agreement with those inferred from sequence data. A single difference is observed and is likely due to a single restriction homoplasy having occurred in the control region. Selective neutrality tests on both RFLP and sequence data accept the hypotheses of mtDNA neutrality and population equilibrium. The deep coalescence times (exceeding 50,000 yr) of sequences associated with the two most frequent restriction haplotypes confirm that the Niokolo Mandenka population has not passed through a recent bottleneck and that gene flow is maintained among West African populations despite ethnic differences.
我们在此展示了在一个庞大且同质化的塞内加尔曼丁卡样本中,限制片段长度多态性(RFLP)与控制区序列多态性之间在群体水平上的首次比较分析。在119个个体中发现了11种RFLP单倍型和60种不同序列,这表明在一个小群体中可以维持非常高的线粒体DNA多样性水平。一个序列邻接树和分子方差分析表明,与给定限制单倍型相关的序列在进化上高度相关:测序通常会导致RFLP单倍型的亚型划分。从限制位点差异推断出的RFLP单倍型之间的进化关系与从序列数据推断出的关系高度一致。观察到一个单一差异,这可能是由于控制区发生了单一的限制同质性。对RFLP和序列数据进行的选择中性检验均接受线粒体DNA中性和群体平衡的假设。与两种最常见限制单倍型相关的序列的深度合并时间(超过50,000年)证实,尼奥科洛曼丁卡群体没有经历过近期的瓶颈,并且尽管存在种族差异,西非群体之间的基因流动仍得以维持。