Dilemma of the Results Interpretation of Molecular Genetic Analysis with a Focus on CFTR Gene Mutations in Men with Reproductive Disorders and in Gamete Donors

Authors: I. Hrdlička
Authors‘ workplace: Ústav biologie a lékařské genetiky 1. LF UK a VFN, Praha, přednostka doc. MUDr. M. Kohoutová, CSc.
Published in: Ceska Gynekol 2008; 73(6): 323-327


The presentation of the results of molecular genetics analysis in men with reproductive disorders and in gamete donors with a focus on interpretation of the results CFTR gene analysis.

Original article.

Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital.

We examined 164 men with reproductive disorders for 36 selected mutations in CFTR gene including T(n) polymorphism and for Y chromosome microdeletions. As well we examined mutations in CFTR gene including T(n) polymorphism in 104 gamete donors.

We detected microdeletions in AZF region in 3 cases of affected men and in other 3 casses we found mutation F508del (heterozygotes) in CFTR gene with T5 variant in trans position. Except this we detected in 5 affected men „only“ heterozygous mutations in CFTR gene and in 12 men „only“ the T5 variant in heterozygous level.

Among gamete donors we found 3 heterozygotes for mutation F508del and 11 heterozygotes for T5 variant.

In infertile men and in gamete donors we recommend to examine not only the „classical“ mutations in CFTR gene but also the relatively frequent T5 variant, which can be in certain conditions considered as a pathogenic mutation. It’s necessary to rule out the carriers of T5 variation from gamete donors.

Key words:
reproductive disorders, gamete donors, Y chromosome, CFTR gene, mutations, variants.


1. Balaščáková, M., Piskačková, T., Holubová, A., et al. Současné metodické postupy a přehled preimplantační, prenatální a postnatální DNA diagnostiky cystické fibrózy v České republice. Čes-slov Pediatr, 2008, 63, 2, s. 62–75.

2. Castellani, C., Cuppens, H., Macek, M. ml., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibrosis, 2008, 7, p. 179-196.

3. Costa, C., Goossens, M., Girodon E. Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: still a challenge. Clin Chem., 2006, 52, p. 1621-1622.

4. Macek, M., Vilímková, Š., Potužníková P., et al. Využití lékařské genetiky v reprodukční medicíně. Čas Lék čes, 2002, 141, 1, s. 28-34.

5. Martin, RH. Cytogenetic determinants of male fertility. Hum Reprod Update, 2008, 14, p. 379-390.

6. Millson, A., Pont-Kingdon, G., Page, S., Lyon, E. Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes. Clin Chem, 2005, 51, p. 1619-1623.

7. Simoni, M., Bakker, E., Eurlings, MC., et al. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl, 1999, 22, p. 292-299.

8. Simoni, M., Bakker, E., Krausz, C. EAA/EMQN best praktice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl, 2004, 27, p. 240-249.

9. Simpson, JL. Hledání významu screeningu cystické fibrózy. Gyn po prom, 2005, s. 26-31.

10. Vávrová, V. Cystická fibróza 1. vyd. Praha: Grada Publishing, 2006, s. 516.

11. Vogt, H., Falcao, CL., Hanstein, R., Zimmer, J. The AZF proteins. Int J Androl, 2008, 31, p. 383-394.

12. Watson, MS., Cutting, GR., Desnick, RJ., et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med, 2004, 6, p. 387-391.

Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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