Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

ABSTRACT:

Purpose

Alterations in collagen type IV, alpha-3 (COL4A3) and collagen type IV, alpha-4 (COL4A4) genes may be responsible for a decrease in collagen types I and III, a feature often detected in keratoconus (KC). To evaluate the significance of alterations in COL4A3 and COL4A4 genes in KC patients, we screened both genes and estimated the significance of polymorphisms in Slovenian patients with KC.

Methods

The study included 104 unrelated patients with KC and 157 healthy blood donors. Diagnosis was established by clinical examination, electronic refractometry, and keratometry. DNA was extracted from blood, and gene exons were amplified by PCR. Non-isotopic high-resolution single-stranded conformation analysis (SSCA) was used to screen COL4A3 and COL4A4 genes, and migration sh

SUBMITTER: Stabuc-Silih M 

PROVIDER: S-EPMC2796875 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature