Document Details

Document Type : Project 
Document Title :
Identification of common CFTR-gene mutations using
تحديد الطفرات CFTR الجينات المشتركة
 
Subject : Medical Technology 
Document Language : Arabic 
Abstract : Fundamentally CF is a genetic disorder and to date over 800 CF mutations have been reported in the CFTR region; first discovered in 1989 (Riordan et al., 1989). Based upon common however functionally significant mutations ABITM launched a multiplex PCR-OLA assay that exploits the multiplexing of 15 pairs of mutation specific primers in a PCR followed by the hybridization and subsequent detection of a common 3' fluorescently labeled probe thus allowing the fragment analysis of PCR product on ABITM sequencer using gene scan software. Our main aim of this project was to optimize and establish this assay as a routine genetic based assay for early diagnosis of Cystic Fibrosis as this will certainly help early intervention and subsequent therapy. Considering that CF is a rare disorder in Saudi Arabia, 10 index cases were analyzed from 10 unrelated, multiethnic families in the Jeddah region alone during the first 12 months of this project. The multiplex PCR-OLA fragment analysis kit was used for mutation detection in clinically affected children and 8/10 (80%) were positive for at least one of the 31 functionally significant mutations. 1st degree relatives’ samples n=21, were also analyzed and mutations have been detected in each family mostly in heterozygous pattern (asymptomatic carriers) with one having compound heterozygous mutation. Cases 2, 5, 6, 7, 9 & 10 were selected for further analysis using CSGE followed by cycle sequencing. Initially these samples were either negative or the parent mutation didn’t coincide with that of affected sibling. A novel 25bp deletion (frameshift) mutation was found in case-10. Although CF-OL assay is an expensive method yet it’s the ideal method for mutation detection in highly suspected CF cases. It can also be used to determine carrier status, something that must routinely be carried out for the 1st degree relatives. It’s recommended that a dedicated referral laboratory be established in Saudi Arabia for these rare genetic disorders where batch analysis can be performed and sensitive data stored along with DNA banking facility. 
Publishing Year : 1425 AH
2005 AD 
Sponsor Name : kau 
Sponsorship Year : 1425 AH
2005 AD 
Added Date : Saturday, November 7, 2009 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عديل جلزار شودريChaudhary, Adeel GulzarInvestigatorDoctorate 

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 24393.doc doc 

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