Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD

Journal of Medical Genetics

Volumn 35, Issue 7, 1998, Pages 594-596

  De Meeus, Anne ^a   Guittard, Caroline ^a   Desgeorges, Marie ^a   Carles, Soukeyna ^a   Demaille, Jacques ^a   Claustres, Mireille ^a  

^a Institute of Biology   (France)

Author keywords

CBAVD; CFTR gene; M470V

Indexed keywords

DNA; RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA TRANSCRIPTION; EXON; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE GENITAL TRACT MALFORMATION; MALE STERILITY; PRIORITY JOURNAL; RNA SPLICING; STATISTICAL ANALYSIS; VAS DEFERENS;

EID: 0031812374     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.7.594     Document Type: Article

References (14)

1. Kerem E, Kommens J, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
2. Riordan JR, Rommens J, Kerem E, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
3. Rommens J, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989;245:1059-65.
4. Kerem B, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet 1996;4:65-73.
5. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-89.
6. Jarvi K, Zielenski J, Wilschanski M, et al. Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 1995;345:1578.
7. Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993;3:151-6.
8. Rave-Harel N, Kerem E, Nissim-Rafinia M, et al. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 1997;60:87-94.
9. Teng H, Jorissen M, Van Poppel H, Legius E, Cassiman JJ, Cuppens H. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet 1997;6:85-90.
10. Cuppens H, Teng H, Jaspers M, Willems T, Jorissen M, Cassiman JJ. Functional characterisation of the M470V locus within the CFTR gene. Isr J Med Sci 1996;32(suppl): S226.
11. Chehab FF, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H. A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute disequilibrium with the ΔF508 mutation: implications for prenatal diagnosis and mutation origin. Am J Hum Genet 1991;48:223-6.
12. de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations. Hum Mutat (in press).
13. Raymond M, Rousset F. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Hered 1995;86:248-9.
14. Garnier-Gere P, Dillmann C. A computer program for testing pairwise linkage disequilibria in subdivided populations. J Hered 1992;83:248-9.