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Technology platforms for molecular diagnosis of cystic fibrosis

Paper ID Volume ID Publish Year Pages File Format Full-Text
14749 1245 2006 8 PDF Available
Title
Technology platforms for molecular diagnosis of cystic fibrosis
Abstract

Cystic fibrosis (CF) is one of the most common recessive genetic diseases in North America. So far, 1200 mutations causing CF have been identified. Several techniques such as allele specific oligonucleotide (ASO) dot-blot, reverse dot-blot, amplification refractory mutation (ARMS), and an oligo-ligation assay, are available to detect the most common mutations. However, detecting compound heterozygotes between ΔF508, the most common disease causing mutation, and other mutations which are rare is difficult as some mutations are common only to particular ethnic groups. Therefore, new diagnostic tests such as restriction enzyme assays and single stranded conformational polymorphism (SSCP) have been designed to recognize rare and population-specific mutations. This review will describe the most commonly used CF mutation detecting diagnostic techniques, as well as novel assays and techniques currently in development that might be employed in future.

Keywords
Cystic fibrosis; ASO dot-blot; Reverse dot-blot; Microarray; Proteomics; Oligo-ligation assay
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Technology platforms for molecular diagnosis of cystic fibrosis
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Publisher
Database: Elsevier - ScienceDirect
Journal: Biotechnology Advances - Volume 24, Issue 1, January–February 2006, Pages 86–93
Authors
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Subjects
Physical Sciences and Engineering Chemical Engineering Bioengineering
Get Full-Text Now
Don't Miss Today's Special Offer
Price was $35.95
You save - $31
Price after discount Only $4.95
100% Money Back Guarantee
Full-text PDF Download
Online Support
Any Questions? feel free to contact us