Lemes Renan B, Nunes Kelly, Meyer Diogo, Mingroni-Netto Regina Célia, Otto Paulo A
1 Department of Genetics and Evolutionary Biology, Institute of Biosciences, Universidade de São Paulo, São Paulo, Brazil.
Hum Biol. 2014 Fall;86(4):276-88. doi: 10.13110/humanbiology.86.4.0276.
This article deals with the estimation of inbreeding and substructure levels in a set of 10 (later regrouped as eight) African-derived quilombo communities from the Ribeira River Valley in the southern portion of the state of São Paulo, Brazil. Inbreeding levels were assessed through F-values estimated from the direct analysis of genealogical data and from the statistical analysis of a large set of 30 molecular markers. The levels of population substructure found were modest, as was the degree of inbreeding: in the set of all communities considered together, F-values were 0.00136 and 0.00248 when using raw and corrected data from their complete genealogical structures, respectively, and 0.022 and 0.036 when using the information taken from the statistical analysis of all 30 loci and of 14 single-nucleotide polymorphic loci, respectively. The overall frequency of consanguineous marriages in the set of all communities considered together was ∼ 2%. Although modest, the values of the estimated parameters are much larger than those obtained for the overall Brazilian population and in general much smaller than the ones recorded for other Brazilian isolates. To circumvent problems related to heterogeneous sampling and virtual absence of reliable records of biological relationships, we had to develop or adapt several methods for making valid estimates of the prescribed parameters.
本文探讨了对巴西圣保罗州南部里贝拉河谷10个(后重新组合为8个)非洲裔基隆博社区的近亲繁殖和亚结构水平进行估计的问题。近亲繁殖水平通过从系谱数据直接分析估计的F值以及对一大组30个分子标记进行统计分析来评估。所发现的群体亚结构水平较低,近亲繁殖程度也较低:在将所有社区作为一个整体考虑时,使用其完整系谱结构的原始数据和校正数据时,F值分别为0.00136和0.00248,而使用对所有30个位点和14个单核苷酸多态性位点进行统计分析所得信息时,F值分别为0.022和0.036。在将所有社区作为一个整体考虑时,近亲婚姻的总体频率约为2%。尽管这些估计参数的值较低,但比巴西总人口的相应值要大得多,并且总体上比巴西其他隔离群体所记录的值小得多。为了规避与异质抽样以及几乎没有可靠的生物学关系记录相关的问题,我们不得不开发或采用几种方法来对规定参数进行有效估计。