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

Черных, В. Б.; Степанова, Анна; Beskorovainaya, T. S.; Сорокина, Т. М.; Шилейко, Л. В.; Kurilo, L. F.; Polyakov, A. V.

doi:10.1134/s1022795410060165

Cited by 10 publications

(7 citation statements)

References 30 publications

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“…4 including 6 heterozygous and two compound-heterozygous (3849+10kbC>T/E92K, n = 1; 2184insA/E92K, n = 1). 5 including 5 heterozygous and one compound-heterozygous (2184insA/E92K). 6 including 3 heterozygous and one compound-heterozygous (L138ins/N1303K).…”

Section: Resultsmentioning

confidence: 99%

“…The PCR consisted of an initial denaturation at 95 • C for 2 min, followed by 35 cycles at 94 • C for 45 s, 65 • C for 45 s, and 72 • C for 45 s, with final completion at 72 • C for 7 min. Results were evaluated by electrophoresis on a 7% polyacrylamide gel stained with ethidium bromide (Figure 1, Table 1) [5,18].…”

Section: Methodsmentioning

confidence: 99%

“…The methodology used for the molecular genetic analysis of the CFTR gene is described in detail in our previous studies [5,18].…”

Section: Methodsmentioning

confidence: 99%

“…Genes 2023, 14, 1407 2 of 10 Commonly, the frequency of CFTR gene variants has been found to be higher in infertile male patients compared to the general population, including Russian men with impaired fertility without diagnosed CF [5,6]. This is mainly due to Congenital Bilateral Aplasia of Vas Deferens (CBAVD, OMIM: 277180), which is characterized by obstructive azoospermia [2,7].…”

Section: Introductionmentioning

confidence: 99%

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L138ins Variant of the CFTR Gene in Russian Infertile Men

Черных

Sorokina

et al. 2023

Genes

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(1) Introduction: Pathogenic variants in the CFTR (Cystic Fibrosis Transmembrane conductance Regulator, OMIM: 602421) gene cause Cystic Fibrosis (CF, OMIM: 219700) and CF-related disorders (CF-RD), often accompanied by obstructive azoospermia due to congenital bilateral aplasia of vas deferens (CBAVD, OMIM: 277180) in male patients. The L138ins (c.413_415dup; p. (Leu138dup)) is a mild variant in the CFTR gene that is relatively common among CF-patients in Slavic populations. The frequency of this variant in Russian infertile men has not been sufficiently studied; (2) Materials and Methods: The sample consisted of 6033 Russian infertile men. The patients were tested for 22 common in Russian populations pathogenic variants of the CFTR gene and the IVS9Tn-polymorphic locus of the intron 9. Molecular-genetic studies were performed using amplified fragment length polymorphism (AFLP-PCR), multiplex ligation-dependent probe amplification (MLPA), and nested PCR (for analysis of the IVS9Tn-polymorphic locus); (3) Results: Pathogenic variants in the CFTR were detected in 3.9% of patients. The most frequent variants were F508del and CFTRdele2.3(21kb), accounted for 61.0% and 7.1% of detected variants, respectively. The L138ins variant was detected in 17 (0.28%) individuals: one of them was homozygous, 10 patients were heterozygous, and 6 patients were compound-heterozygous (F508del/L138ins, n = 4; L138ins/N1303K, n = 1; L138ins/5T, n = 1). Two pathogenic CF-causing variants in the CFTR gene were detected in 8 patients, including 7 compound heterozygous (F508del/L138ins, n = 4; F508del/N1303K, n = 1; 2184insA/E92K, n = 1; 3849+10kbC>T/E92K, n = 1) and one homozygous (L138ins/L138ins). The L138ins variant was found in 7 out of 16 (43.75%) chromosomes in six of these patients. The most common pathogenic variant, F508del, was identified in five out of them, in 5 of 16 (31.25%) chromosomes. The allele frequency (AF) of the L138ins variant in the sample has been found to be 0.0014.; (4) Conclusions: The L138ins variant of the CFTR gene is the third most common variant after F508del and CFTRdele2.3(kb) among Russian infertile men.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“…The methodology used for the molecular genetic analysis of the CFTR gene is described in detail in our previous studies [5,18].…”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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L138ins Variant of the CFTR Gene in Russian Infertile Men

Черных

Sorokina

et al. 2023

Genes

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“…Используя точный двусторонний критерий Фишера и критерий χ 2 мы не выявили достоверных различий частоты аллеля 5Т между нашей когортой и контрольной выборкой мужчин с нормоспермией из российской популяции, опубликованной в исследовании V. B. Chernykh и соавт. [18]. Возможно, это обусловлено малым количеством пациентов в анализируемой выборке.…”

Section: определение делеций Azf и частых мутаций Cftrunclassified

Methylation of the SNRPN gene in infertile men without mutations in common candidate genes for reduced fertility

Михайленко

Симонова

Аль-Акел

et al. 2021

Androl. genit. hir.

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Introduction. Male infertility is a common problem in andrology and occurs in 45 % of infertile couples. Some cases of male infertility caused by genetic reasons: point mutations at some monogenic diseases, AZF deletions or a CFTR mutation compounds; reduced fertility is also associated with polymorphic variants of the genes AR and GSTT1/GSTM1. At the same time, increasing amount of data are being published about the role of epigenetic mechanisms (aberrant methylation and imprinting alterations) in defective spermatogenesis.Materials and methods. We have studied 49 sperm samples obtained from unrelated infertile men using polymerase chain reaction, fragment analysis, and sequencing.Results. Five patients were excluded from the initial cohort: one with a repeat length of 29 (CAG) in the first exon of the AR, three with null genotypes in the GSTT1 and GSTM1, and one with the delF508/5T heterozygous compound in the CFTR. Thereafter, methylation of the imprinted gene SNRPN was determined using methyl-specific polymerase chain reaction and bisulfite sequencing. Aberrant SNRPN methylation was detected in 11.4 % of male infertility samples. In total, molecular genetic and epigenetic alterations were determined in 20 % of patients.Conclusions. Obtained data demonstrate a significant proportion of (epi)genetic disorders in a heterogeneous cohort of men with reduced fertility.

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