Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.

ABSTRACT: Purpose. Studies involving genotyping of STR markers at 2q34 have repeatedly found the region to host the disease haplotype for pediatric cataract. Present study investigated the association of D2S2944 marker, in sperm associated antigen 16 (SPAG16) gene and rs2289917 polymorphism, in γ-crystallin B gene, with childhood cataract. Methods. 97 pediatric cataract cases and 110 children with no ocular defects were examined for tetranucleotide repeat marker/SNP using PCR-SSLP/RFLP techniques. Polymorphisms were assessed for association using contingency tables and linkage disequilibrium among alleles of the markers was estimated. Energy-optimization program predicted the secondary structure models of repeats of D2S2944. Results. Seven alleles of D2S2944, with 9-15 "GATA" repeats, were observed.

SUBMITTER: Mehra S 

PROVIDER: S-EPMC4437386 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature