APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease.

Autor: Alladagbin DJ; Fundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BA, Rua Waldemar Falcão, no. 121, CEP 40.296-710, Salvador, Brazil., da Silva CGR; Fundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BA, Rua Waldemar Falcão, no. 121, CEP 40.296-710, Salvador, Brazil., Silva LK; Fundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BA, Rua Waldemar Falcão, no. 121, CEP 40.296-710, Salvador, Brazil., Dos-Santos WL; Fundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BA, Rua Waldemar Falcão, no. 121, CEP 40.296-710, Salvador, Brazil., de Sá Oliveira GG; Fundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BA, Rua Waldemar Falcão, no. 121, CEP 40.296-710, Salvador, Brazil. geraldo.oliveira@fiocruz.br.
Jazyk: angličtina
Zdroj: BMC nephrology [BMC Nephrol] 2022 Oct 10; Vol. 23 (1), pp. 329. Date of Electronic Publication: 2022 Oct 10.
DOI: 10.1186/s12882-022-02954-w
Abstrakt: Two alleles (G1 and G2) of the apolipoprotein 1 gene (APOL1) predispose people of African descent to developing or accelerating the course of certain types of kidney disease. Population studies to determine the frequency of the G1 and G2 alleles are important to inform resource allocation by public health authorities. Traditionally, APOL1 genotyping is carried out in blood samples. However, sample collection, transport, and storage is cumbersome. Here we compared APOL1 genotyping in blood and buccal mucosa cell samples obtained from 23 individuals. Alleles G0 (wild), G1, and G2, as well as genotypes G0/G0, G0/G1, G1/G1, G0/G2, G1/G2, and G2/G2 were detected using both blood and buccal mucosa cells with 100% coincidence. Our data indicate that buccal mucosa cell samples may represent a suitable alternative to blood samples for APOL1 genotyping in the field.
(© 2022. The Author(s).)
Databáze: MEDLINE