Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

ABSTRACT:

Purpose

The aim of the study was to resolve the genetic etiology in families having inherited cataracts.

Methods

Families afflicted with congenital/childhood cataracts were registered in Chennai and Orissa (India). Blood samples were collected from the probands and available family members. Selected functional candidate genes were amplified by polymerase chain reaction (PCR) and characterized by direct sequencing. Putative mutations were confirmed in healthy controls.

Results

We observed interesting new polymorphisms of ethnic specificity, some of frequent nature, such as a 3-bp deletion in intron 3 of CRYBB2 (encoding βB2-crystallin) and IVS1+9 c>t variation in HSF4 (encoding heat-shock factor 4). Some rare single nucleotide polymorphisms (SNPs) co-segregate with the

SUBMITTER: Santhiya ST 

PROVIDER: S-EPMC2956670 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature