Author/Authors :
Ataei، Mitra نويسنده , , ZARE MEHRJERDI، Mohammad Ali نويسنده MD,Associate Professor of Ophtalmology, Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran , , YAZDI، Amir Reza نويسنده General Physician, Genetic Diagnostic Department, Special Medical Center, Tehran, Iran , , ZAMANI، Akram نويسنده MSc, Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran , , FARAJE ILANJEGH، Abolfazl نويسنده BSc,Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran , , Houshmand، Massoud نويسنده ,
Abstract :
Objective
Macular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the stroma of cornea. Most cases of MCD are caused by mutations in CHST6 gene. The aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (CHST6) through genetic analysis of 7 Iranian patients with MCD.
Materials & Methods
We screened the CHST6 gene to determine the range of pathogenic mutations. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the CHST6 gene were amplified using three pairs of primers, and directly sequenced in the final step.
Results
Four mutations were found to affect the translated protein and each of them corresponded to a particular disease haplotype that has been previously reported.
