author(s)
Sajid Amin, Hameed Ur Rehman, Rukhsana Gul, Muhammad Imran, Wasif Ullah, TajUd Din, Safia Gul, Maleeha Azam, Sajid Awais and Afzal Ahmad

abstract
The present study was conducted from august 2014 to august 2015 to screen the Pakistani NPHP patients for NPHP1 gene deletions. In order to evaluate the homozygous deletion of the NPHP1 gene in Pakistani NPHP patients, we analyzed NPHP1 gene in a cohort of eleven families diagnosed with NPHP for the detection of NPHP1 gene deletion and genotyping was done via conventional Polymerase chain reaction by using three pairs of primers for exons 5, 7 and 20 of NPHP1 gene and two pairs of primers for exon 4 and 6 of LHX9 gene (control) from chromosome 1.The results were checked on 2% Agarose gel. The present study results demonstrate that 45% of patients (5/11) were positive for homozygous NPHP1 gene deletion and 6/11 patients were found not linked to NPHP1 gene. The six patients were excluded from NPHP1 gene deletion, suggesting further heterogeneity in the present NPHP cohort. Finding of further heterogeneity in Pakistani NPHP patients has significant importance for genetic counseling, early prognosis and disease management.