Journal of Genetic Syndromes & Gene Therapy
Open Access

Mahrukh H Zargar

Publications

• Research Article
  Identification of Unique Pattern of CFTR Gene Mutations in Cystic Fibrosis in an Ethnic Kashmiri Population (North India)
  Author(s): Arshad A Pandith, Shahnawaz A Sheikh, Shehjar Faheem, Mahrukh H Zargar, Tahir M Malla, Zafar A Shah, Adil Lateef, Iqbal Qasim, Niyaz A Azad, Shahid M Baba and Fayaz A Dar Arshad A Pandith, Shahnawaz A Sheikh, Shehjar Faheem, Mahrukh H Zargar, Tahir M Malla, Zafar A Shah, Adil Lateef, Iqbal Qasim, Niyaz A Azad, Shahid M Baba and Fayaz A Dar
  
  Background: Cystic Fibrosis (CF) one of the most common severe autosomal recessive disorders is caused by mutations in CFTR gene. The mutation distributions vary widely between different geographical and ethnic groups. In view of ethnic nature of Kashmiri population (North India), we aim at looking for the 3 common mutations Δ508, 3849+10 kb, C>T and W1282X in CF suspected cases. Method: The mutations were evaluated in 150 highly suspected children with CF, proven by clinical features. ARMS-PCR was used for mutation detection of Δ508 and W1282X while as 3849+10 kb, C>T was assessed by indigenously developed ARMS-PCR and results were confirmed by RFLP. Results: Of the 150 suspected CF cases, one of the three mutations was found in 60 out of the 300 alleles genotype.. View More»
  DOI: 10.4172/2157-7412.1000260

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