Crystalline Gamma D and Gap junction-3 genes Polymorphism in Bilateral Congenital Cataract

Feti K Memed¹
Natadisastra G¹
Achmad TH²
Garna H 2
Fujimaki T³
Murakami A³

¹Cicendo Eye Hospital-Department of Ophthalmology Padjadjaran University Bandung Indonesia
²Department of Biochemistry Medical Faculty Padjadjaran University Bandung, Indonesia
³Department of Ophthalmology Juntendo University Tokyo, Japan

Purpose of this study is to investigate the mutation of Crystalline Gamma D (CRYG-D) gene and Gap Junction-3 (GJA-3) gene in bilateral congenital Cataract.

Material and Methods: This study is a genetic epidemiology study with case control design. The study was done in Cicendo Eye Hospital Bandung, Dr. Hasan Sadikin General Hospital Bandung, and Juntendo School of Medicine Tokyo, Japan from June 2009 until May 2010. Case group of 29 children with bilateral congenital cataract were taken by consecutive admission sampling, while control group consisted of 29 volunteers without cataract and not related to the case group. The blood samples were taken to measure and analyze genetic sequencing of CRYG-D, GJA-3.

Result: In this study, Y17Y CRYG-D polymorphism was found in 27 samples of case group and 14 samples of control group, R95R CRYG-D polymorphism was found in 25 samples of case group and 16 samples of control group. L299M GJA-3 polymorphism was found in all samples of case and control group. A339A GJA-3 polymorphism was found in 19 samples of Case Group and also in 18 samples of Control Group. In GJA-3 gene also we found TG deletion at 1668 nucleotide position or 187 bp downstream after stop codon in 28 samples of case group and in 12 samples in control group.

Conclusion: Polymorphisms of Y17Y CRYG-D, R95R CRYG-D, L299M GJA-3, A339A GJA-3 were found in Bilateral Congenital Cataract in Indonesia.