A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

ABSTRACT:

Background

Fanconi anemia (FA) is a predominantly autosomal recessive disease with wide genetic heterogeneity resulting from mutations in several DNA repair pathway genes. To date, 21 genetic subtypes have been identified. We aimed to identify the FA genetic subtypes in the Brazilian population and to develop a strategy for molecular diagnosis applicable to routine clinical use.

Methods

We screened 255 patients from Hospital de Clínicas, Universidade Federal do Paraná for 11 common FA gene mutations. Further analysis by multiplex ligation-dependent probe amplification (MLPA) for FANCA and Sanger sequencing of all coding exons of FANCA, -C, and -G was performed in cases who harbored a single gene mutation.

Results

We identified biallelic mut

SUBMITTER: Pilonetto DV 

PROVIDER: S-EPMC5511800 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature