Infertility Research Today is a free monthly online journal that collates and summarizes the latest research about Infertility, including details on male and female infertility, treatment, causes, pregnancy. | ||||||||
|
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J Institute of Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany. Solveig.Schulz@medizin.uni-magdeburg.de OBJECTIVE: To investigate the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in males with reduced sperm quality before intracytoplasmic sperm injection (ICSI). DESIGN: The nine most frequent cystic-fibrosis-causing mutations in the German population and IVS8T alleles were analyzed. SETTING: University-based centers for reproductive medicine and clinical genetics. PATIENT(S): An unselected group of 597 males with oligo-, astheno-, terato-, crypto-, oligoasthenoteratozoospermia, or azoospermia, which underwent pre-ICSI genetic counseling over a 5-year period. INTERVENTION(S): Blood samples were collected from the patients during genetic counseling. MAIN OUTCOME MEASURE(S): Frequency of mutations of CFTR gene in infertile males. RESULT(S): A heterozygous CFTR mutation was observed in 34 of 597 patients (5.70%). None of the patients had two CFTR mutations. Given that our mutation panel recognizes about 82% of heterozygotes, it can be assumed that the frequency of CFTR heterozygotes in our cohort is about 6.94%. The frequency of CFTR mutations in our cohort did not correlate with a reduced sperm count. CONCLUSION(S): The frequency of cystic fibrosis in the German population is 1:3300. Thus, a CFTR heterozygosity of 3.42% can be estimated. This indicates that in our cohort of infertile males, the frequency of CFTR heterozygosity is twofold higher than in the general population (P<.0001). Published 17 January 2006 in Fertil Steril, 85(1): 135-8.
© 2004-2008 Infertility Research Today. All Rights Reserved. |
| ||||||
