Human Genetics

Russian Journal of Genetics

, Volume 46, Issue 6, pp 750-757

First online:

The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene in Russian infertile men

  • V. B. ChernykhAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences Email author 
  • , A. A. StepanovaAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences
  • , T. S. BeskorovainayaAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences
  • , T. M. SorokinaAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences
  • , L. V. ShileikoAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences
  • , L. F. KuriloAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences
  • , A. V. PolyakovAffiliated withResearch Center for Medical Genetics, Russian Academy of Medical Sciences

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Abstract

The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene have been studied in a cohort of 963 in Russian infertile men. Mutations have been found in 48 out of 1926 analyzed chromosomes (2.5%) in the heterozygous state (n = 46) and in the compound heterozygote L138ins/N1303K (n = 1). A CFTR gene mutation was combined with the 5T allele (mutCFTR/5T) in 11 patients. The following mutations have been found: F508del (n = 18), CFTRdele2,3(21kb) (n = 9), W1282X (n = 7), 2143delT (n = 4), 3849 +10kbC>T (n = 2), L138ins (n = 2), 1677delTA (n = 1), 2184insA (n = 1), 3821delT (n = 1), G542X (n = 1), N1303K (n = 1), and R334W (n = 1). The F508del mutation is the most frequent; it has been detected in 37.5% of the affected chromosomes. The total proportion of four mutations (F508del, CFTRdele2,3(21kb), W1282X, and 2143delT) is about 79% of all mutations found. The 5T allele has been found in 10.9% infertile men and 4.8% of control men. Significant differences in the frequency of the IVS8-5T variant of the CFTR gene have been found between these groups (p = 0.005), as well as between infertile patients without mutations and control men (p = 0.019). In total, the mutations and /or 5T allele have been found in 14.6% of the patients examined. These data indicate increased frequencies of the mutations of the CFTR gene and its allele variant IVS8-5T in Russian infertile men.