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

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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.

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Authors and Affiliations

  1. Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    V. B. Chernykh, A. A. Stepanova, T. S. Beskorovainaya, T. M. Sorokina, L. V. Shileiko, L. F. Kurilo & A. V. Polyakov

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  1. V. B. Chernykh
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  2. A. A. Stepanova
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  3. T. S. Beskorovainaya
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  4. T. M. Sorokina
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  5. L. V. Shileiko
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  6. L. F. Kurilo
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Correspondence to V. B. Chernykh.

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Original Russian Text © V.B. Chernykh, A.A. Stepanova, T.S. Beskorovainaya, T.M. Sorokina, L.V. Shileiko, L.F. Kurilo, A.V. Polyakov, 2010, published in Genetika, 2010, Vol. 46, No. 6, pp. 844–852.

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Chernykh, V.B., Stepanova, A.A., Beskorovainaya, T.S. et al. The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene in Russian infertile men. Russ J Genet 46, 750–757 (2010). https://doi.org/10.1134/S1022795410060165

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