Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation

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• 作者：D. A. S. de Souza ; F. R. Faucz ; R. B. de Alexandre ; M. A. Santana…
• 关键词：Cystic fibrosis ; CFTR ; XK haplotypes ; p.F508del ; Afro ; Brazilians
• 刊名：Genetica
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：145
• 期：1
• 页码：19-25
• 全文大小：
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Animal Genetics and Genomics; Plant Genetics & Genomics; Evolutionary Biology; Human Genetics; Microbial Genetics and Genomics;
• 出版者：Springer International Publishing
• ISSN：1573-6857
• 卷排序：145

文摘

Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length polymorphism (RFLP) named XK (KM19 and XV2C) is non-randomly associated with specific CF alleles. Our aim was to analyze the occurrence of the p.F508del mutation and XK haplotypes in Afro-Brazilians CF patients and controls, since these data is available for the other two main ethnic groups found in Brazil (Euro-Brazilians and Brazilian Amerindians), contributing for the whole comprehension of these haplotypes in the Brazilian population. A total of 103 patients and 54 controls were studied. PCR and PCR-RFLP methodologies were used to identify the presence of the p.F508del and the XK haplotype in the subjects. The combined data show that 84.2% of p.F508del mutation is associated with haplotype B and only 15.8% with haplotype A; no other haplotypes were found to be associated with this mutation. Our data suggest that the occurrence of p.F508del mutation and haplotype B in Afro-Brazilian patients occurs probably due to admixture with Euro-descendants. Therefore this mutation and haplotype could be used as a admixture marker.