Neel J V
Proc Natl Acad Sci U S A. 1973 Dec;70(12):3311-5. doi: 10.1073/pnas.70.12.3311.
Electrophoretic studies were performed on 15 proteins of blood serum and of erythrocytes, from blood specimens from 72 villages of six relatively unacculturated and genetically pure Indian tribes of South America, for a total of 56,237 determinations. At least 10 different "private" variants were encountered, in 131 people. Two previously recognized genetic polymorphisms of these 15 proteins were also encountered. On the assumption that these variants are neutral from the standpoint of natural selection, and that only one-third of amino-acid substitutions in proteins result in electrophoretically detectable variants, the mutation rate is estimated from a formulation of Kimura and Ohta to be about 8 x 10(-5) per locus per generation. The calculation involves several approximations which can be improved by further investigations; if confirmed, then for this class of mutations Indian mutation rates are roughly an order of magnitude higher than commonly envisioned.
对来自南美洲六个相对未受文化影响且基因纯正的印第安部落72个村庄的血液样本中的血清和红细胞的15种蛋白质进行了电泳研究，总共进行了56237次测定。在131人中发现了至少10种不同的“私有”变体。还发现了这15种蛋白质中两种先前已确认的基因多态性。假设这些变体从自然选择的角度来看是中性的，并且蛋白质中只有三分之一的氨基酸替换会导致可通过电泳检测到的变体，根据木村和太田的公式估计突变率约为每代每个基因座8×10⁻⁵。该计算涉及几个近似值，可通过进一步研究加以改进；如果得到证实，那么对于这类突变，印第安人的突变率大致比通常设想的高一个数量级。
