Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil
| العنوان: | Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil |
|---|---|
| المؤلفون: | Araujo Fc, T. F. Araujo, Barbosa Er, Deguti Mm, Bem Rsd, Otto Pa, Cancado Elr |
| المصدر: | La Prensa Medica. 102 |
| بيانات النشر: | OMICS Publishing Group, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Proband, education.field_of_study, business.industry, Incidence (epidemiology), Population, General Medicine, Consanguinity, Disease, Compound heterozygosity, Medicine, Allele, education, business, Allele frequency, Demography |
| الوصف: | Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil The present paper deals with the estimation of the overall frequency of ATP7B alleles determining Wilson disease (WD) and the population frequency of the condition in Brazil. Genealogical, demographic, and molecular data from 83 WD probands, studied at three distinct WD referral centers, were used for obtaining a population estimate for the overall frequency of alleles that in homozygous or compound heterozygous state determine the frequency of the condition in Brazil; the method we used exploits the relatively high proportion of consanguinity among parents of affected individuals compared with the proportion in the general population. The value we obtained for the overall allele frequency was q = 0.006, with a 95% bootstrap confidence interval of 0.004 to 0.012. The corresponding value for the disease incidence or frequency was P (WD) = 0.000041. |
| تدمد: | 0032-745X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::37447f0a4dd34f2c4bf91fd7450259e6 https://doi.org/10.4172/lpma.1000226 |
| رقم الأكسشن: | edsair.doi...........37447f0a4dd34f2c4bf91fd7450259e6 |
| قاعدة البيانات: | OpenAIRE |
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