Detection of 98. 5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

Journal Article · Wed Dec 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1016/S0888-7543(05)80376-3· OSTI ID:7075891

Cuppens, H; Marynen, P; Cassiman, J J ^[1]; De Boeck, C ^[2]

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1. Univ. of Leuven (Belgium)
2. UZ Gasthuisberg, Leuven (Belgium)

The authors have previously shown that about 85% of the mutations in 194 Belgian cystic fibrosis alleles could be detected by a reverse dot-blot assay. In the present study, 50 Belgian chromosomes were analyzed for mutations in the cystic fibrosis transmembrane conductance regulator gene by means of direct solid phase automatic sequencing of PCR products of individual exons. Twenty-six disease mutations and 14 polymorphisms were found. Twelve of these mutations and 3 polymorphisms were not described before. With the exception of one mutant allele carrying two mutations, these mutations were the only mutations found in the complete coding region and their exon/intron boundaries. The total sensitivity of mutant CF alleles that could be identified was 98.5%. Given the heterogeneity of these mutations, most of them very rare, CFTR mutation screening still remains rather complex in the population, and population screening, whether desirable or not, does not appear to be technically feasible with the methods currently available. 24 refs., 1 fig., 2 tabs.

• OSTI ID: 7075891
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 18:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
550900 -- Pathology
59 BASIC BIOLOGICAL SCIENCES
BODY
DETECTION
DISEASES
DNA SEQUENCING
ETIOLOGY
FIBROSIS
GENE MUTATIONS
HEREDITARY DISEASES
LUNGS
MEMBRANE PROTEINS
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PATHOLOGICAL CHANGES
PORINS
PROTEINS
RESPIRATORY SYSTEM
STRUCTURAL CHEMICAL ANALYSIS