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

Content Provider	Springer Nature Link
Author	Souza, D. A. S. Faucz, F. R. Alexandre, R. B. Santana, M. A. Souza, E. L. S. Reis, F. J. C. Pereira Ferrari, L. Sotomaior, V. S. Culpi, L. Phillips, J. A. Raskin, S.
Copyright Year	2017
Abstract	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.
Starting Page	19
Ending Page	25
Page Count	7
File Format	PDF
ISSN	00166707
Journal	Genetica
Volume Number	145
Issue Number	1
e-ISSN	15736857
Language	English
Publisher	Springer International Publishing
Publisher Date	2017-02-03
Publisher Place	Cham
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cystic fibrosis CFTR XK haplotypes p.F508del Afro-Brazilians Animal Genetics and Genomics Plant Genetics & Genomics Evolutionary Biology Human Genetics Microbial Genetics and Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Plant Science Medicine Animal Science and Zoology Insect Science

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