Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.

ABSTRACT:

Aim

To identify novel mutations in keratoconus (KC) susceptibility genes in the Chinese Han population.

Methods

A total of fifty-two patients with primary KC were recruited. Blood samples were collected, and genomic DNA was isolated from peripheral blood leukocytes. The entire coding region, intron-exon junctions, and promoter regions of sixteen known KC susceptibility genes were screened with next-generation sequencing technology. All identified variants were further confirmed using the Sanger sequencing technology. The Sorting Intolerant from Tolerant (SIFT), MutationTaster, and PolyPhen 2 programs were used to predict the effect of amino acid substitution on protein.

Results

After removing twelve known SNPs (single nucleotide polymorphisms) and three variants predi

SUBMITTER: Chen B 

PROVIDER: S-EPMC8853779 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature