Objective: Genetic analysis of genes causing different types of alopecia and therapeutic options.
Methodology: This Experimental study was carried out at Center for Research in Experimental and Applied Medicine, Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi from May 5 to August 8, 2017. Sample collection and pedigree analysis of families having affected individuals was done. DNA was extracted and it was visualized by trans-illuminator. Microsatellite markers of known gene were used for exclusion mapping. Mapping was done of candidate region by microsatellite markers and when affected individuals showed any homozygosity at any known locus then potential gene was sequenced for any sequence variant.
Results: Genes LIPH was defected, which was responsible for hypotrichosis. Hypotrichosis was the diagnosis, which can only be treated symptomatically, as there is no permanent cure.
Conclusion: Genes LPAR6, P2RY5 and LIPH were defected indicating hypotrichosis. Unfortunately no treatment has been discovered yet, only symptomatic relief can be given to patient. Consanguineous marriages must be avoided in affected families. Genetic awareness and counselling is very important for the benefit of future generation.
Key words: Alopecia, analysis, genes, families, treatment
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