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

2014 ◽  
Vol 26 (2) ◽  
pp. 307 ◽  
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.

scholarly journals Inhibin B plasma concentrations in infertile patients with DAZ gene deletions treated with FSH

2002 ◽  
pp. 801-806 ◽  
Author(s):  
C Foresta ◽  
A Bettella ◽  
E Moro ◽  
M Rossato ◽  
M Merico ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sertoli Cell ◽  
Germ Cells ◽  
Sertoli Cells ◽  
Cell Function ◽  
Plasma Concentrations ◽  
Inhibin B ◽  
Azoospermia Factor ◽  
Deleted In Azoospermia ◽  
Factor C

OBJECTIVE: The DAZ (deleted in azoospermia) gene family on the Y chromosome long arm is the major candidate for the AZFc (azoospermia factor c) phenotype of male infertility and it is expressed only in germ cells. The aim of the study was to assess Sertoli cell function in subjects with AZFc deletions. DESIGN: Case-control, prospective study. METHODS: We have studied six severely oligozoospermic subjects with AZFc-DAZ deletions, and looked whether they responded in terms of inhibin B production to a 1 month FSH treatment. These patients were compared with three groups of patients affected by different spermatogenic alterations not related to deletions on the Y chromosome. RESULTS: Although affected by severe testiculopathy, patients with AZFc-DAZ deletions had only slightly elevated FSH, and normal inhibin B plasma concentrations. Inhibin B responded normally during FSH treatment, supporting the hypothesis that Sertoli cells are not altered. On the contrary, other severe testiculopathies not related to Y chromosome deletions showed high FSH and low inhibin B concentrations, with no response to FSH treatment. In these cases the cause of the spermatogenic defect probably damaged both germ and Sertoli cells. Finally, idiopathic patients with a hormonal status similar to Y-deleted patients (slightly elevated FSH and normal inhibin B concentrations) did not respond to FSH treatment, suggesting that Sertoli cells were already at their maximal functional capability. CONCLUSIONS: These data confirm that Sertoli cell function is not damaged in patients with AZFc-DAZ deletions and that the strong reduction of germ cells does not affect the FSH-inhibin B feedback loop.

scholarly journals DETEKSI DELESI GEN DAZ (Deleted in AZoospermia) PADA PRIA AZOOSPERMIA DENGAN METODE PCR (Polymerase Chain Reaction)

2018 ◽  
Vol 1 (1) ◽  
pp. 52-62
Author(s):  
V.A. Ferandra V.A. Ferandra ◽  
Sukarjati Sukarjati
Keyword(s):  
Polymerase Chain Reaction ◽  
Venous Blood ◽  
Chain Reaction ◽  
Gene Deletions ◽  
Azoospermia Factor ◽  
Pcr Polymerase Chain Reaction ◽  
Pcr Products ◽  
Deleted In Azoospermia ◽  
Polymerase Chain ◽  
Daz Gene

At this time the case of azoospermia is quite common in infertile men. Azoospermia is a condition where the semen does not contain sperm. Many causes azoospermia, including the deletion of a gene at the locus that is located on the Y chromosome long arm (YQ) known as AZF gene (Azoospermia Factor). One of the genes in the AZF region are genes that AZFc DAZ (Deleted in Azoospermia). The purpose of this study was to detect the presence of the DAZ gene deletions in men with azoospermia cases using PCR (Polymerase Chain Reaction). The study design was descriptive. Venous blood samples with EDTA anticoagulant taken from 10 men azoospeermia then extracted to obtain DNA. DNA samples were then carried out PCR with primers DAZ. The PCR products were separated by electrophoresis in 2% agarose gel and visualized using UV translluminator. Of the 10 samples, four patients including DAZ gene deletion was detected experience while the other six do not experience DAZ gene deletions. It concluded that found their DAZ gene deletions in men with azoospermia using the PCR method.

scholarly journals DETEKSI DELESI GEN DAZ (Deleted in AZoospermia) PADA PRIA AZOOSPERMIA DENGAN METODE PCR (Polymerase Chain Reaction)

2018 ◽  
Vol 1 (1) ◽  
pp. 52-58
Author(s):  
V.A. Ferandra ◽  
Sukarjati Sukarjati
Keyword(s):  
Polymerase Chain Reaction ◽  
Venous Blood ◽  
Chain Reaction ◽  
Gene Deletions ◽  
Azoospermia Factor ◽  
Pcr Polymerase Chain Reaction ◽  
Pcr Products ◽  
Deleted In Azoospermia ◽  
Polymerase Chain ◽  
Daz Gene

At this time the case of azoospermia is quite common in infertile men. Azoospermia is a condition where the semen does not contain sperm. Many causes azoospermia, including the deletion of a gene at the locus that is located on the Y chromosome long arm (YQ) known as AZF gene (Azoospermia Factor). One of the genes in the AZF region are genes that AZFc DAZ (Deleted in Azoospermia). The purpose of this study was to detect the presence of the DAZ gene deletions in men with azoospermia cases using PCR (Polymerase Chain Reaction). The study design was descriptive. Venous blood samples with EDTA anticoagulant taken from 10 men azoospeermia then extracted to obtain DNA. DNA samples were then carried out PCR with primers DAZ. The PCR products were separated by electrophoresis in 2% agarose gel and visualized using UVtranslluminator. Of the 10 samples, four patients including DAZ gene deletion was detected experience while the other six do not experience DAZ gene deletions. It concluded that found their DAZ gene deletions in men with azoospermia using the PCR method

scholarly journals Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population

2006 ◽  
Vol 44 (3) ◽  
pp. 205-208 ◽  
Author(s):  
B. Arredi ◽  
A. Ferlin ◽  
E. Speltra ◽  
C. Bedin ◽  
D. Zuccarello ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Italian Population ◽  
Azoospermia Factor ◽  
Factor C

Human Y-chromosome haplotyping by allele-specific polymerase chain reaction

2008 ◽  
Vol 29 (11) ◽  
pp. 2419-2423 ◽  
Author(s):  
Tenzin Gayden ◽  
Maria Regueiro ◽  
Laisel Martinez ◽  
Alicia M. Cadenas ◽  
Rene J. Herrera
Keyword(s):  
Polymerase Chain Reaction ◽  
Y Chromosome ◽  
Chain Reaction ◽  
Specific Polymerase Chain Reaction ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Human Y Chromosome

Frequency of Y Chromosome Microdeletions in Azoospermic and Oligospermic Iranian Infertile Men

2020 ◽  
Author(s):  
Sepideh Gholami Yarahmadi ◽  
Saeid Morovvati ◽  
Monireh Raam ◽  
Ziba Morovvati
Keyword(s):  
Polymerase Chain Reaction ◽  
Y Chromosome ◽  
In Vitro Fertilisation ◽  
Control Group ◽  
Chain Reaction ◽  
Azoospermia Factor ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain

Background and Aims: Azoospermia factor (AZF) region of the Ychromosome has several genes which are responsible for normal spermatogenesis. Microdeletions of these genes are associated with azoospermia and oligospermia. These microdeletions are too small to be detected by karyotyping. They can be easily identified using polymerase chain reaction. The aim of this study is to determine the frequencies of Ychromosome microdeletions in azoospermic and oligospermic Iranian infertile men and compare them with other studies in different ethnic groups. Materials and Methods: At first, karyotype analysis was performed in 80 infertile men and 30 healthy age-matched counterparts as control group using standard cytogenetic methods. Second, genomic DNA was extracted from all cases and genetic screening was conducted for Y chromosome microdeletions by multiplex polymerase chain reaction for AZF genes on both infertile and control men using 6 STS markers on the long arm of the Y chromosome. Results: Totally, 49 infertile men were azoospermic and 31 were oligospermic. Y-chromosome microdeletions in the AZFc region were detected in 4 of azoospermic patients. Y-chromosome microdeletions was not detected in any of the oligospermic patients and the control group. Conclusions: This finding recommends that genetic counseling and screening before starting assisted reproductive techniques such as in vitro fertilisation and intracytoplasmic sperm injection can prevent unnecessary treatment and transmission of genetic defects to offspring

Sign in / Sign up

Export Citation Format

Share Document