Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

ABSTRACT:

Objective

To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis.

Methods

We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated.

Results

Maximum 2-point LOD scores of 5.68 and 2.88 at theta = 0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval f

SUBMITTER: Kaul H 

PROVIDER: S-EPMC3398798 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature