Seyyedha Abbas - Foundation University Medical College (FUMC), Islamabad, Pakistan
Abdul Khaliq Naveed - Army Medical College, National University of Sciences &Technology.Rawalpindi, Pakistan
Shakir Khan - Margalla Medical and Dental College, Islamabad, Pakistan
Muhammad Jawad Yousaf - Army Medical College, National University of Sciences & Technology, Rawalpindi, Pakistan
Zahid Azeem - AJK Medical College, Muzaffrahbad, AJK, Pakistan
Suhail Razak - Biochemistry and Molecular Biology,Army Medical College, National University of Sciences & Technology, Rawalpindi, Pakistan
Fatima Qaiser - Army Medical College, National University of Sciences and Technology, Rawalpindi, Pakistan

Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was performed using ۸% polyacrylamide gel. Candidate gene was sequenced after gene linkage supported at highly polymorphic microsatellite markers of the diseased region. Results: Both families were initially tested for linkage to known genes, which were involved in human hereditary hypotrichosis, by genotyping Highly polymorphic microsatellite markers. Family B showed partial linkage at P۲RY۵ gene on chromosome ۱۳q۱۴.۱۱-q۲۱.۳۲; hence, all exonic regions and their introns boundaries were subjected to DNA sequencing for any pathogenic mutation. Conclusion:Both families were tested for linkage by genotyping polymorphic microsatellite markers linked to known alopecia loci. Family A excluded all known diseased regions that is suggestive of some novel chromosomal disorder. However, sequencing of P۲RY۵ gene in family B showed no pathogenic mutation.

Alopecia, autosomal recessive, Hypo-trichosis, Genetics, P۲RY۵ gene, Pakistan