Inbreeding and PKU allele frequency

Estimating by microsatellite approaches

Bibliographic Data

ID19459177
AuthorsLuciana Lara dos Santos (0000-0001-6186-4062, Universidade Federal de Minas Gerais), Cleusa Graça da Fonseca (Universidade Federal de Minas Gerais), Marco Túlio Vaintraub (Centro de Reprodução Humana Prof. Franco Junior), Patrícia M V Vaintraub (Centro de Reprodução Humana Prof. Franco Junior), Patricia Vaintraub, José N Januário (0000-0002-0912-3782, Universidade Federal de Minas Gerais), Marcos José Burle de Aguiar (0000-0003-0497-5262, Universidade Federal de Minas Gerais), Maria Raquel Santos Carvalho (0000-0002-1744-448X, Universidade Federal de Minas Gerais, corresponding author)
Year2010
Volume22
Issue5
Pages716-719
Publication date2010-09-01
Open AccessYes
TypeARTICLE
VenueAmerican Journal of Human Biology (JOURNAL)
Journal identifiersISSN: 1042-0533 • E-ISSN: 1520-6300
PublisherWiley (PUBLISHER • GB)
DOI10.1002/ajhb.21072
PMID20737622
OpenAlexW2095770947
LanguageEN
References cited25

UNLABELLED: Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q(2)). 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

Allele · Allele frequency · Biology · Consanguinity · Gene · Hum · Inbreeding · Microsatellite · Population · Demography · Genomics and Rare Diseases · Metabolism and Genetic Disorders · Pharmacogenetics and Drug Metabolism · Genetics

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