A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.

ABSTRACT:

Purpose

To identify the mutation for Volkmann cataract (CTRCT8) at 1p36.33.

Methods

The genes in the candidate region 1p36.33 were Sanger and parallel deep sequenced, and informative single nucleotide polymorphisms (SNPs) were identified for linkage analysis. Expression analysis with reverse transcription polymerase chain reaction (RT-PCR) of the candidate gene was performed using RNA from different human tissues. Quantitative transcription polymerase chain reaction (qRT-PCR) analysis of the GNB1 gene was performed in affected and healthy individuals. Bioinformatic analysis of the linkage regions including the candidate gene was performed.

Results

Linkage analysis of the 1p36.33 CCV locus applying new marker systems obtained with Sanger and deep sequenci

SUBMITTER: Eiberg H 

PROVIDER: S-EPMC6377377 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature