Types of Y chromosome deletions and their frequency in infertile men

Черных, В. Б.; Чухрова, А. Л.; Beskorovainaya, T. S.; Grishina, E. M.; Сорокина, Т. М.; Шилейко, Л. В.; Gogolevsky, P.; Kalugina, A. S.; Morina, G. V.; Togobetsky, A. S.; Tanevsky, V. E.; Zdanovsky, V. M.; Gogolevskaya, Irina K.; Крамеров, Д. А.; Polyakov, A. V.; Kurilo, L. F.

doi:10.1134/s1022795406080138

Russ J Genet

2006

DOI: 10.1134/s1022795406080138

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Types of Y chromosome deletions and their frequency in infertile men

В. Б. Черных

А. Л. Чухрова

T. S. Beskorovainaya

et al.

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Cited by 7 publications

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“…The common frequency (4,5%) of microdeletions in our investigated group of men is an agreement with data obtained by another authors from European and Asian countries (table. 1) [1,[14][15][16][17].…”

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Analysis of defects in the AZF gene of the Y-chromosome and the CFTR gene involved in male infertility

et al. 2008

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Institute of molecular biology and genetics NAS of Ukraine, Kyiv; 150 Zabolotnogo str., Kyiv, 03680, Ukraine olga_fesay@ukr.netAnalysis of microdeletions on the long arm of the human Y chromosome, that are associated with spermatogenic failure, allowed us to define three regions of Yq (AZFa, AZFb and AZFc) recurrently deleted in infertile males. Microdeletions were detected in 16 of total 355 (4,5%) infertile men. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which also involved in male infertility, were detected in 22 out of 355 analyzed infertile men. The most common mutation was F508del (17 of total 22 mutations). 5T allele of CFTR gene associated with congenital bilateral absence of the vas deferens was detected in 16 of total 355 (4,5%) patients. Molecular-genetic analysis of the Y-chromosome microdeletions and CFTR gene mutations as well as genetic counseling are necessary conditions for the diagnostics of patients with male infertility, especially if they are involved in an assisted reproductive technology program.

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Analysis of defects in the AZF gene of the Y-chromosome and the CFTR gene involved in male infertility

et al. 2008

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Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

et al. 2022

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Genetic Factors of Male Infertility, Their Combinations and the Spermatological Characteristics of Men With Fertility Failures

Сафина¹,

Яманди²,

Черных³

et al. 2018

Androl. genit. hir.

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The objectiveis to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic study, the sample is divided into 3 groups: 135 men with numerical sex chromosome abnormalities; 58 male patients with a balanced structural rearrangement; 200 men with normal karyotype. Y chromosome microdeletions, CFTR gene mutations and CAG-repeats polymorphism of AR gene were analyzed.Results. The Y-chromosome microdeletions partially AZFc deletions were detected in 13 % male patients with sex chromosome abnormalities. A combination of chromosomal abnormalities with AZF deletions and/or CFTR gene mutations and long CAG repeats of AR gene was found in 19 % infertile men with balanced chromosome rearrangements. Infertile men with normal male karyotype presented the frequency of common genetic factors of male infertility was almost 2 times higher than the combined frequency of these factors in groups of patients with chromosomes abnormalities. Azoospermia in men with normal karyotype and patients with chromosome abnormalities was diagnosed with the same frequency (58 %). In all men who have identified the presence of two or more genetic factors of male infertility, severe forms of pathozoospermia (azoospermia and severe oligozoospermia) were found.Conclusion. The combination of genetic factors of male infertility is accompanied by severe forms of pathozoospermia that indicates a possible additive effect of negative effect on spermatogenesis and male fertility.

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Types of Y chromosome deletions and their frequency in infertile men

Cited by 7 publications

References 23 publications

Analysis of defects in the AZF gene of the Y-chromosome and the CFTR gene involved in male infertility

Analysis of defects in the AZF gene of the Y-chromosome and the CFTR gene involved in male infertility

Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

Genetic Factors of Male Infertility, Their Combinations and the Spermatological Characteristics of Men With Fertility Failures

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