Distribution of Microdeletions in DAZ (Deleted in Azoospermia) Family Genes Located on Y-Chromosome AZF Region (Azoospermic Factor) in Patients With Infertility

The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.

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The frequency of terminal deletions sY160 among men with microdeletions of AZFc region Y-chromosome

Faktori eksperimental'noi evolucii organizmiv ◽

10.7124/feeo.v21.856 ◽

1970 ◽

Vol 21 ◽

pp. 301-305

Author(s):

I. Ye. Haiboniuk ◽

M. Ya. Tyrkus ◽

H. V. Makukh

Keyword(s):

Y Chromosome ◽

Molecular Genetic ◽

Terminal Deletion ◽

Molecular Genetic Study ◽

Salting Out ◽

Azfc Region ◽

Specific Pcr ◽

Allele Specific ◽

Keywords Male Infertility ◽

Azf Region

Aim. Determine the frequency of absence marker terminal deletions sY160 among men with microdeletions of AZFc region Y-chromosome. Methods. DNA from probands blood samples was isolated using a modified salting out method. Microdeletions of Y chromosome AZF region were analyzed using two multiplex PCR. The molecular-genetic study of terminal deletions (absence of sY160) was carried out using allele-specific PCR and analysed by electrophoresis in a 2 % agarose gel. Results. Among infertile men (1500 individuals), Y chromosome microdeletions were detected in 7% males: microdeletions of AZFa subregion in 1 %, AZFb subregion – 3 %, AZF(b+c) subregions – 15 %, AZFc subregion – 67 %. The presence of heterochromatin marker sY160 was confirmed in 39 cases (84.8 %) and absence of sY160 in 7 men (15.2 %). Absence of sY160 was detected in 2 men with AZFc microdeletion and in 5 men with AZFb+AZFc microdeletions. It is important to point out that terminal AZFc deletion was confirmed in 83.3 % of cases of AZFb+c microdeletions and only in 5.1 % of isolated AZFc microdeletions. Conclusions. Thus, among 15.2 % man with different AZF microdeletions of Y-chromosome the heterochromatin marker of terminal deletion sY160 was absents. The implementation of testing of marker of terminal deletion – sY160 may help to determine if the deletion corresponds to the b2/b4 pattern and to avoid biopsy in man which most likely not benefit from the surgical procedure. Keywords: male infertility, spermatogenesis, Y chromosome, AZF region, terminal deletions.

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Prognostic factors for the success of obtaining spermatozoa with a biopsy of testicular tissue in men with severe forms of pathozoospermia

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.96-97 ◽

2020 ◽

pp. 96-97

Author(s):

Т.А. Яманди ◽

Н.Ю. Сафина ◽

В.Б. Черных ◽

Л.В. Акуленко

Keyword(s):

Prognostic Factors ◽

In Vitro Fertilization ◽

Y Chromosome ◽

Testicular Biopsy ◽

Testicular Tissue ◽

Inhibin B ◽

Severe Oligozoospermia ◽

Vitro Fertilization ◽

Azf Region

Приводятся данные обследования мужчин с азооспермией и олигозооспермией тяжелой степени, имеющих и не имеющих микроделеции длинного плеча Y-хромосомы, а также результаты биопсии тестикулярной ткани. Отсутствие делеций региона AZF, отсутствие гипоплазии яичек, а также нормальные показатели ФСГ, ЛГ и ингибина В являются прогностически благоприятными критериями в отношении успешности получения сперматозоидов при биопсии ткани яичка для проведения экстракорпорального оплодотворения (ЭКО). The article presents the results of a survey of men with azoospermia and severe oligozoospermia, with and without microdeletion of the long arm of the Y chromosome, as well as the results of a testicular biopsy. The absence of deletions of the AZF region, the absence of testicular hypoplasia, as well as normal levels of FSH, LH and inhibin B are prognostically favorable criteria for the success of obtaining spermatozoa with a biopsy of testicular tissue for in vitro fertilization (IVF).

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Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome

Reproduction Fertility and Development ◽

10.1071/rd12290 ◽

2014 ◽

Vol 26 (2) ◽

pp. 307 ◽

Cited By ~ 4

Author(s):

Byunghyuk Kim ◽

Wonkyung Lee ◽

Kunsoo Rhee ◽

Soo Woong Kim ◽

Jae-Seung Paick

Keyword(s):

Y Chromosome ◽

Pcr Assay ◽

Azfc Region ◽

Azoospermia Factor ◽

Azfc Deletion ◽

Deleted In Azoospermia ◽

Polymerase Chain ◽

Factor C ◽

Human Y Chromosome ◽

Daz Gene

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.

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