Mode of inheritance for hypotrichosis in families of Sahiwal Division, Punjab, Pakistan

Abstract

Congenital hypotrichosis is a major genetic disorder of hair-growth that affects millions of people all around the world. In this study, hypotrichosis was studied in the affected families in the district of Sahiwal. A wide survey was conducted in both rural and urban areas of district Sahiwal. For additional investigation and pedigree construction, five families were selected after the survey was completed for further analyses. Verbal consent was taken from the participants to assure them that the information and data was taken with their complete willingness and harmony, without any pressure. During the survey, each family was thoroughly interrogated, and the pedigree was constructed. The pedigree analyses were used to determine the prevalence of hypotrichosis and origin of mutation in each family. A pedigree analyses of hypotrichosis-infected individuals found that the disease was handed down through generations. In each generation of infected families, some people remain unaffected showed that the disease was genetically recessive disorder. Overall prevalence of this genetic disorder was 25.82S% in the selected families. The hypotrichosis affected 55 individuals out of 213 individuals in studied families. In the current study, the prevalence of this disease varied across all reported families. The prevalence rate of the disease in UOA was 17.24%, in UOB was 20.00%, in UOC was 41.94%, in UOD was 23.40% and in UOE was 40.740% of the families. The present study concluded that hypotrichosis in the selected families were persistent for at least three generations and the mode of inheritance was autosomal recessive.