Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

被引：0

作者：

Chernykh, V. B. ^{[1
,2
]}

Ryzhkova, O. P. ^{[1
]}

Kuznetsova, I. A. ^{[1
]}

Kazaryan, M. S. ^{[1
]}

Sorokina, T. M. ^{[1
]}

Kurilo, L. F. ^{[1
]}

Schagina, O. A. ^{[1
]}

Polyakov, A., V ^{[1
]}

机构：

[1] Res Ctr Med Genet, Moscow 115522, Russia

[2] Pirogov Russian Natl Res Med Univ, Moscow 117997, Russia

来源：

RUSSIAN JOURNAL OF GENETICS | 2022年 / 58卷 / 07期

关键词：

Y chromosome; AZF locus; microdeletions; spermatogenesis; male fertility; SPERMATOGENIC FAILURE; MICRODELETION; POLYMORPHISM; PALINDROMES; MUTATION; FATHER;

D O I：

10.1134/S1022795422070043

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Y chromosome microdeletions are one of the common copy number variations (CNVs) associated with male (sub)infertility. The frequency and spectrum of AZFc region (locus Yq11.223) deletions in Russian fertile men (n = 436) were studied. Complete AZFc (b2/b4) deletions were not detected in the studied sample; partial AZFc deletions were found in 77 (17.7%) individuals. The most frequent types of them were b2/b3 and gr/gr deletions, which were revealed in 64 (14.7%) and 10 (2.3%) patients and accounted for 72.8 and 23.3% of all detected Y chromosome microdeletions, respectively. Other (rare) types of partial AZFc deletions were detected in three (0.7%) men. The obtained data indicate that partial AZFc deletions in Russian fertile men are common microdeletion variants (CNVs) of the Y chromosome, at that the b2/b3 deletion characteristic of the N1 haplogroup is their most frequent type.

引用

页码：850 / 856

页数：7

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