Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.

ABSTRACT:

Purpose

To identify deleterious mutations in the latent transforming growth factor-β-binding protein 2 (LTBP2) gene in sporadic patients with primary congenital glaucoma (PCG) from a Han Chinese population, which had been excluded for mutations in the CYP1B1 gene.

Methods

In this retrospective case-control study, 36 coding exons and adjacent exon-intron boundaries of LTBP2 were amplified with PCR and screened for mutations with Sanger sequencing in DNA samples of 214 sporadic patients with PCG. Sequence variants identified in the patients with PCG were subsequently screened in 100 unaffected control subjects and the unaffected parents of the patients with PCG who had sequence changes in LTBP2.

Results

Eight heterozygous single nucleotide polymorphisms (SNPs) in coding

SUBMITTER: Chen X 

PROVIDER: S-EPMC4885908 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature