Inbreeding and PKU allele frequency: Estimating by microsatellite approaches
| Autor: | Maria Raquel Santos Carvalho, Marcos José Burle de Aguiar, Patricia Vaintraub, C. G. Fonseca, José Nélio Januário, Marco Túlio Vaintraub, Luciana Lara dos Santos |
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| Rok vydání: | 2010 |
| Předmět: |
Genetic Markers
congenital hereditary and neonatal diseases and abnormalities Statistics as Topic Population Genes Recessive Biology Consanguinity Gene Frequency Phenylketonurias Genetic variation Genetics Hum Humans education Allele frequency Ecology Evolution Behavior and Systematics education.field_of_study Incidence Incidence (epidemiology) nutritional and metabolic diseases Genetic differentiation Genetics Population Anthropology Microsatellite Anatomy Inbreeding Brazil Microsatellite Repeats |
| Zdroj: | American Journal of Human Biology. 22:716-719 |
| ISSN: | 1042-0533 |
| DOI: | 10.1002/ajhb.21072 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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