Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

ABSTRACT:

Purpose

To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea.

Methods

A corneal button of the proband was obtained by penetrating keratoplasty. The half button and ultrathin sections from the other half button were examined with special stains under a light microscope (LM) and an electron microscope (EM) separately. Genomic DNA was extracted from peripheral blood of 11 family members, and the coding region of CHST6 was amplified by the polymerase chain reaction (PCR) method. The PCR products were analyzed by direct sequencing and restriction enzyme digestion.

Results

The positive reaction to colloidal iron stain (extracel

SUBMITTER: Dang X 

PROVIDER: S-EPMC2666773 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature