Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

ABSTRACT:

Background

Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients.

Methods

This article describes the genetic characterization of a cohort of patients. Telomere length was determined by Southern blot and quantitative PCR. Nucleotide variants were analyzed either by high-resolution melting analysis and Sanger sequencing of selected exons or by massive sequencing of a panel of genes.

Results

Forty-seven patients with telomere length below the 10% of normal population, affected wit

SUBMITTER: Arias-Salgado EG 

PROVIDER: S-EPMC6471801 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature