Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.

ABSTRACT:

Purpose

The autosomal recessive form of congenital hereditary endothelial dystrophy (CHED2) is a rare eye disorder caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12. The purpose of this study was to carry out genetic analysis of CHED2 in two Indian families.

Methods

Blood samples were collected from individuals for genomic DNA isolation. In order to see if these families had mutations in the SLC4A11 gene, we selected 11 microsatellite markers from the CHED2 candidate region and used them to genotype the families. DNA sequence analysis was used for mutation detection. Allele-specific PCR was used to determine the segregation of mutations in families and also to determine if the mutations were present in 100 ethnically matched normal co

SUBMITTER: Kumar A 

PROVIDER: S-EPMC2503190 | biostudies-literature | 2007 Jan

REPOSITORIES: biostudies-literature