title: Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).
abstract: OBJECTIVE
  Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation.
  
  
  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 8% 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 P2RY5 gene on chromosome 13q14.11-q21.32; hence, all exonic regions and their introns boundaries were subjected to DNA sequencing for any pathogenic mutation.
  
  
  CONCLUSIONS
  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 P2RY5 gene in family B showed no pathogenic mutation.
authors.affiliation: Foundation University Medical College (FUMC), Islamabad, Pakistan.
authors.forename: Seyyedha
authors.initials: S
authors.lastname: Abbas
authors.affiliation: Army Medical College, National University of Sciences &Technology.Rawalpindi, Pakistan.
authors.forename: Abdul Khaliq
authors.initials: AK
authors.lastname: Naveed
authors.affiliation: Margalla Medical and Dental College, Islamabad, Pakistan.
authors.forename: Shakir
authors.initials: S
authors.lastname: Khan
authors.affiliation: Army Medical College, National University of Sciences & Technology, Rawalpindi, Pakistan.
authors.forename: Muhammad Jawad
authors.initials: MJ
authors.lastname: Yousaf
authors.affiliation: AJK Medical College, Muzaffrahbad, AJK, Pakistan.
authors.forename: Zahid
authors.initials: Z
authors.lastname: Azeem
authors.affiliation: Biochemistry and Molecular Biology,Army Medical College, National University of Sciences & Technology, Rawalpindi, Pakistan.
authors.forename: Suhail
authors.initials: S
authors.lastname: Razak
authors.affiliation: Army Medical College, National University of Sciences and Technology, Rawalpindi, Pakistan.
authors.forename: Fatima
authors.initials: F
authors.lastname: Qaiser
keywords: Alopecia; Autosomal recessive; Genetics; Hypo-trichosis; P2RY5 gene; Pakistan