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Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.
- Source :
-
Molecular vision [Mol Vis] 2008 Sep 05; Vol. 14, pp. 1659-65. Date of Electronic Publication: 2008 Sep 05. - Publication Year :
- 2008
-
Abstract
- Purpose: Two consanguineous Pakistani families with autosomal recessive primary congenital glaucoma were recruited to identify the disease locus.<br />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.<br />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=0 were obtained for families PKGL005 and PKGL025, respectively. Haplotype analysis defined the disease locus as spanning a 6.56 cM (~4.2 Mb) genetic interval flanked by D14S289 proximally and D14S85 distally.<br />Conclusions: Linkage analysis localizes autosomal recessive primary congenital glaucoma to chromosome 14q24.2-24.3 in consanguineous Pakistani families.
Details
- Language :
- English
- ISSN :
- 1090-0535
- Volume :
- 14
- Database :
- MEDLINE
- Journal :
- Molecular vision
- Publication Type :
- Academic Journal
- Accession number :
- 18776954