Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

ABSTRACT:

Purpose

Two consanguineous Pakistani families with autosomal recessive primary congenital glaucoma were recruited to identify the disease locus.

Methods

Ophthalmic examinations including slit lamp biomicroscopy and applanation tonometry were employed to classify the phenotype. Blood samples were collected and genomic DNA was extracted. A genome wide scan was performed on both families with 382 polymorphic microsatellite markers. Two point LOD scores were calculated, and haplotypes were constructed to define the disease interval.

Results

Clinical records and ophthalmic examinations suggest that affected individuals in families PKGL005 and PKGL025 have primary congenital glaucoma. Maximum two-point LOD scores of 5.88 with D14S61 at theta=0 and 6.19 with D14S43 at theta=

SUBMITTER: Firasat S 

PROVIDER: S-EPMC2530517 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature