Salma Sultana, Samina Jalali, Farhat Jabeen, Sa Shami, Shagufta Khaliq, Muhammad Ismail, Aiysha Abid, Muhammad Nasir.
Localization of DFNB28 locus in a Pakistani consanguineous kindred.
Pak J Med Res Jan ;45(1):21-4.
Objectives: To determine the disease locus involved in autosomal recessive nonsyndromic deafness. Subjects and methods: 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. Results: 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 8 = 0. Conclusion: Significant linkage was found with DFNB28 locus at chromosome 22 (22q13).
PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com