Localization of DFNB28 locus in a Pakistani consanguineous kindred

ABSTRACT

To determine the disease locus involved in autosomal recessive nonsyndromic deafness. Five generations of a Pakistani sheikh consanguineous family suffering from nonsyndromic deafness was ascertained from the Punjab province. The molecular studies were carried out at Biomedical and Genetic Engineering Division, KRL, Islamabad. Fifteen family members [five affected and ten normal] were processed for molecular studies. All marriages were consanguineous. Linkage analysis for known loci of autosomal recessive non-syndromic deafness was carried out. Two point lod score analysis resulted in maximum lod score [Z max] 4.35 for marker D22S445 at 6 = 0. Significant linkage was found with DPNB28 locus at chromosome 22 [22ql3]