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Inbreeding and PKU allele frequency: Estimating by microsatellite approaches

Authors

  • Luciana L. Santos,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
    2. Campus Centro-Oeste Dona Lindu, Universidade Federal de São João Del-Rei, Divinópolis, MG, Brasil
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  • Cleusa G. da Fonseca,

    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
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  • Marco T. Vaintraub,

    1. GENETICENTER, Centro de Genética e Reprodução, Nova Lima, MG, Brazil
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  • Patricia Vaintraub,

    1. GENETICENTER, Centro de Genética e Reprodução, Nova Lima, MG, Brazil
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  • José N. Januário,

    1. Núcleo de Ações e Pesquisa em Apoio Diagnóstico, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
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  • Marcos J.B. de Aguiar,

    1. Núcleo de Ações e Pesquisa em Apoio Diagnóstico, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
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  • Maria Raquel Santos Carvalho

    Corresponding author
    1. Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
    • Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
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Abstract

Abstract:

Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q2). However, these estimates can be strongly biased due to inbreeding in the population.

Objectives:

The purpose of this study was to gain a better understanding of how inbreeding in the Minas Gerais State population affects phenylketonuria (PKU) incidence in the state and to determine the inbreeding coefficient based on microsatellites.

Methods:

Inbreeding coefficients of samples of 104 controls and 76 patients with PKU were estimated through a microsatellite approach. Besides, the amount and distribution of genetic variation within and among patients with PKU and control samples were characterized.

Results:

No genetic differentiation was observed between the samples. However, the Fis value found for samples of patients with PKU (0.042) was almost 15 times higher than that found among controls (0.003). When corrected by the inbreeding coefficient found among the controls, the PKU allele frequency decreased to 0.0057.

Conclusions:

The results enables us to infer that at least 35% of the PKU recessive homozygotes from the Minas Gerais population could be due to consanguineous marriages and suggest that microsatellites can be an useful approach to estimate inbreeding coefficients. Am. J. Hum. Biol. 22:716–719, 2010. © 2010 Wiley-Liss, Inc.

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