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Paper Information

Journal:   IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES   JULY 2014 , Volume 17 , Number 7; Page(s) 470 To 475.
 
Paper: 

GENETIC DISSECTION OF TWO PAKISTANI FAMILIES WITH CONSANGUINEOUS LOCALIZED AUTOSOMAL RECESSIVE HYPOTRICHOSIS (LAH)

 
 
Author(s):  ABBAS SEYYEDHA*, NAVEED ABDUL KHALIQ, KHAN SHAKIR, YOUSAF MUHAMMAD JAWAD, AZEEM ZAHID, RAZAK SUHAIL, QAISER FATIMA
 
* FOUNDATION UNIVERSITY MEDICAL COLLEGE (FUMC), ISLAMABAD, PAKISTAN
 
Abstract: 

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 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.
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 P2RY5 gene in family B showed no pathogenic mutation.

 
Keyword(s): ALOPECIA, AUTOSOMAL RECESSIVE, HYPO-TRICHOSIS, GENETICS, P2RY5 GENE, PAKISTAN
 
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