The screening of pathogenic locus in a primary open angle glaucoma pedigree

Objective

To screen the pathogenic locus and gene in a primary open angle glaucoma(POAG), and to provide a basis for molecular genetic study of POAG.

Methods

A POAG pedigree with 35 members was diagnosed in Sichuan peoples’ Hospital from January to August 2005.The disease history and clinical data were collected.Genome-wide scan was performed for the families.Specific software was used to calculate the LOD value, which based on the allele (haploid) typing result with two-point method to definite the positive loci by the largest LOD value.

Results

The POAG family had 35 members of 4 generations.18 patients were diagnosed as juvenile open angle glaucoma from visual disc shape abnormality and loss of typical visual field.All of the patients in this family suffered various degrees of binocular vision loss and vision loss in childhood, with poorly visual function.The LOD values of 3 short tandom repeat (STR) markers on chromosome 2 were greater than 3.0, they were D2S2369 (LOD value 4.003 3), D2S2332 (LOD value 3.840 2) and D2S337 (LOD value 4.752 0). There was a genetic linkage near the three genetic markers in the family.The primary glaucoma positive locus was a in chromosome p15 to chromosome p16.2, and the genetic distance was about 9 Mb, locating in between the markers D2S2369 and D2S2397.

Conclusions

GLCIH is a pathogenic locus for this POAG pedigree, which supplies an evidence for elucidating the pathogenesis of POAG.