Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

Human Mutation

Volumn 10, Issue 2, 1997, Pages 108-115

  Friedman, Kenneth J ^a,b   Heim, Ruth A ^b   Knowles, Michael R ^b   Silverman, Lawrence M ^b  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Allele specific PCR; CFTR; Cystic fibrosis; Polythymidine; Sinopulmonary; Splicing

Indexed keywords

POLYNUCLEOTIDE; THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INCIDENCE; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; PANCREAS INSUFFICIENCY; PARANASAL SINUS DISEASE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; INCIDENCE; INFANT; INTRONS; LUNG DISEASES; MALE; MUTATION; PARANASAL SINUS DISEASES; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; VARIATION (GENETICS);

EID: 0030749512     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G     Document Type: Article

References (6)

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3. Beggs AH (1994) Multiplex PCR for identification of dystrophin gene deletions in patients with Duchenne and Becker muscular dystrophy. In: Current Protocols in Human Genetics. New York: Wiley & Sons, pp 9.31.-9.17.
4. Casals T, Bassas L, Ruiz-Romero J, Chillón M.Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X (1995) Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: In 50% of cases only one CFTR allele could be detected. Hum Genet 95:205-211.
5. Chillón M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey M-C, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Ferec C, Estivill X (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of vas deferens. N Engt J Med 332:1475-1480.
6. Chu CS, Trapnell BC, Curristin SM, Cutting OR, Crystal RG (1992) Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmcmbrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J Clin Invest 90:785-790.