The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Asian Journal of Andrology

Volumn 14, Issue 5, 2012, Pages 687-690

  Ni, Wu Hua ^a   Jiang, Lei ^a   Fei, Qian Jin ^a   Jin, Jian Yuan ^a   Yang, Xu ^a   Huang, Xue Feng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

CFTR; congenital bilateral absence of the vas deferens; IVS8 5T; M470V; male infertility

Indexed keywords

POLYTHYMIDYLIC ACID; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ALLELE; ARTICLE; CHINESE; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE ASSOCIATION; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE GENITAL TRACT MALFORMATION; MORBIDITY; POLYMERASE CHAIN REACTION; PREVALENCE; STATISTICAL SIGNIFICANCE; VAS DEFERENS;

BASE SEQUENCE; CHINA; CONGENITAL ABNORMALITIES; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA PRIMERS; HUMANS; MALE; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; VAS DEFERENS;

EID: 84866240781     PISSN: 1008682X     EISSN: 17457262     Source Type: Journal    
DOI: 10.1038/aja.2012.43     Document Type: Article

References (37)

1. Zielenski J Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995; 29: 777-807.
2. Grangeia A Niel F Carvalho F Fernandes S Ardalan A et al. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. Hum Reprod 2004; 19: 2502-8.
3. Li N Pei P Bu DF He B Wang GF. A novel CFTR mutation found in a Chinese patient with cystic fibrosis. Chin Med J (Engl) 2006; 119: 103-9
4. Alper OM Shu SG Lee MH Wang BT Lo SY et al. Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients. J Formos Med Assoc 2003; 102: 287-91.
5. Wong LJ Alper OM Wang BT Lee MH Lo SY. Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. Am J Med Genet 2003; 120A: 296-8
6. Anzai C Morokawa N Okada H Kamidono S Eto Y et al. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J Cyst Fibros 2003; 2: 14-8.
7. Jequier AM Ansell ID Bullimore NJ. Congenital absence of the vasa deferentia presenting with infertility. J Androl 1985; 6: 15-9.
8. Chen JM Cutler C Jacques C Boeuf G Denamur E et al. A combined analysis of the cystic fibrosis transmembrane conductance regulator: Implications for structure and disease models. Mol Biol Evol 2001; 18: 1771-88.
9. Timmreck LS Gray MR Handelin B Allito B Rohlfs E et al. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. Am J Med Genet A .2003; 120A: 72-6
10. Kiesewetter S Macek M Jr Davis C Curristin SM Chu CS et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993; 5: 274-8.
11. 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.
12. Teng H Jorissen M van Poppel H Legius E Cassiman JJ et al. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Mol Genet 1997; 6: 85-90.
13. Groman JD Hefferon TW Casals T Bassas L Estivill X et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004; 74: 176-9.
14. Chiang HS Lu JF Liu CH Wu YN Wu CC. CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis. Clin Genet 2009; 76: 282-6.
15. Cuppens H Lin W Jaspers M Costes B TengHet al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998; 101: 487-96.
16. Niksic M Romano M Buratti E Pagani F Baralle FE. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999; 8: 2339-49.
17. Pagani F Buratti E Stuani C Romano M Zuccato E et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 2000; 275: 21041-7.
18. Radpour R Gourabi H Gilani MA Dizaj AV. Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. J Androl 2007; 28: 541-7.
19. de Meeus A Guittard C Desgeorges M Carles S Demaille J et al. Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J Med Genet 1998; 35: 594-6.
20. Wu CC Alper OM Lu JF Wang SP Guo L et al. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.HumReprod 2005; 20: 2470-5.
21. Uzun S Gokce S Wagner K. Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. Tohoku J Exp Med 2005; 207: 279-85.
22. Yu J Chen Z Ni Y Li Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): A systemic review and meta-analysis. Hum Reprod 2012; 27: 25-35.
23. Chillon M Casals T Mercier B Bassas L Lissens W et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475-80.
24. Grangeia A Carvalho F Fernandes S Silva J SousaMet al. A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. Fertil Steril 2005; 83: 448-51.
25. Radpour R Gilani MA Gourabi H Dizaj AV Mollamohamadi S. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens. Mol Hum Reprod 2006; 12: 469-73.
26. WuCC Hsieh-Li HM Lin YM Chiang HS. Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. Hum Reprod 2004; 19: 250-3.
27. Dayangac D Erdem H Yilmaz E Sahin A Sohn C et al. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 2004; 19: 1094-100.
28. Chu CS Trapnell BC Murtagh JJ Jr Moss J Dalemans W et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator genemRNAtranscripts in normal bronchial epithelium.EMBOJ 1991; 10: 1355-63.
29. Stuppia L Antonucci I Binni F Brandi A Grifone N et al. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs. Eur J Hum Genet 2005; 13: 959-64.
30. Pallares-Ruiz N Carles S des Georges M Guittard C Arnal F et al. Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: Cystic fibrosis mutations are not involved in healthy men with reduced sperm quality. Hum Reprod 1999; 14: 3035-40.
31. Danziger KL Black LD Keiles SB Kammesheidt A Turek PJ. Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod 2004; 19: 540-6.
32. Kosova G Pickrell JK Kelley JL McArdle PF Shuldiner AR et al. The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate. PLoS Genet 2010; 6: E1000974
33. Lissens W Mercier B Tournaye H Bonduelle M Ferec C et al. Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. Hum Reprod 1996; 11Suppl 4: 55-78; discussion 9-80.
34. Halliday J. Outcomes for offspring ofmen having ICSI for male factor infertility. Asian J Androl 2012; 14: 116-20.
35. Chiang HS Wu CC Wu YN Lu JF Lin GH et al. CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens a Taiwanese mother and twins resulting from ICSI procedure. J Formos Med Assoc 2008; 107: 736-40.
36. Oates R. Evaluation of the azoospermic male. Asian J Androl 2012; 14: 82-7.
37. Cottin V Thibout Y Bey-Omar F Durieu I Laoust L et al. Late CF caused by homozygous IVS8-5T CFTR polymorphism. Thorax 2005; 60: 974-5.