Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population

Pal, Asoke K

doi:10.7860/jcdr/2014/7680.4116

Cited by 15 publications

(15 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The overall frequency of AZF deletions in Chinese infertile male subjects was 8.30%. The frequency of AZF deletions in azoospermic and severe oligozoospermic infertile males was 10.78% and 5.34%, respectively, which is more or less consistent with other reports (Ferlin et al, 2007;Kim et al, 2012;Pal, 2014;Zhang et al, 2013b). The frequency of AZF deletions in the three hospitals was 8.46%, 8.89%, and 7.27%, and the frequencies did not significantly differ between the hospitals (Fig.…”

Section: Discussionsupporting

confidence: 89%

“…With real-time PCR, using two AZFa STS markers, we found that the marker sY84 was absent, while sY82 was present in this case. The frequency of AZF deletions in azoospermic and severe oligozoospermic infertile males was 10.78% and 5.34%, respectively, which is more or less consistent with other reports (Ferlin et al, 2007;Kim et al, 2012;Pal, 2014;Zhang et al, 2013b). 3.…”

Section: Frequency Of Complete Azf Deletionssupporting

confidence: 91%

See 1 more Smart Citation

Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction

Zhu

Gong

et al. 2016

Andrologia

View full text Add to dashboard Cite

Azoospermia factor (AZF) genes on the long arm of the human Y chromosome are involved in spermatogenesis, and microdeletions in the AZF region have been recognised to be the second major genetic cause of spermatogenetic failure resulting in male infertility. While screening for these microdeletions can avoid unnecessary medical and surgical treatments, current methods are generally time-consuming. Therefore, we established a new method to detect and analyse microdeletions in the AZF region quickly, safely and efficiently. In total, 1,808 patients with spermatogenetic failure were recruited from three hospitals in southern China, of which 600 patients were randomly selected for screening for Y chromosome microdeletions in AZF regions employing real-time polymerase chain reaction with a TaqMan probe. In our study, of 1,808 infertile patients, 150 (8.3%) were found to bear microdeletions in the Y chromosome using multiplex PCR, while no deletions were found in the controls. Among the AZF deletions detected, two were in AZFa, three in AZFb, 35 in AZFc, three in AZFb+c and two in AZFa+b+c. Our method is fast-it permits the scanning of DNA from a patient in one and a half hours-and reliable, minimising the risk of cross-contamination and false-positive and false-negative results.

show abstract

Section: Discussionsupporting

confidence: 89%

Section: Frequency Of Complete Azf Deletionssupporting

confidence: 91%

Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction

Zhu

Gong

et al. 2016

Andrologia

View full text Add to dashboard Cite

show abstract

“…Many authors assert that long-lasting oxidative stress seriously damages human DNA [ 12 , 13 , 15 ]. Furthermore, genetic factors are considered responsible in at least 10–15% of cases of male infertility [ 80 ]. Therefore, it is necessary to analyze external and internal environmental genetic reasons for male infertility, as aside from the most common phenotypes.…”

Section: Genetic Reasons For Spermatogenesis Disturbances: Impairmmentioning

confidence: 99%

“…The differentiation in prevalence among patients from various populations ranges from 1% to as much as 35%. It has been estimated as 15% in Spain and Italy, 1–4% in Germany and France, 10% in China and the USA, 8% in India and Netherlands, and 12% in Tunisia and Mexico [ 20 , 80 , 83 ]. Furthermore, ethnic mutability in modern populations tends to increase the incidence making the matter more complex [ 81 , 86 ].…”

Section: Genetic Reasons For Spermatogenesis Disturbances: Impairmmentioning

confidence: 99%

External and Genetic Conditions Determining Male Infertility

Kamiński

Baszyński

Jerzak

et al. 2020

IJMS

View full text Add to dashboard Cite

We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzymatic responses, causing oxidative stress, and leading to apoptosis, they downgrade semen quality. These factors are closely connected with male reproductive potential since genetic polymorphisms and mutations in chromosomes 7, X, and Y critically impact on spermatogenesis. Microdeletions in the Azoospermic Factor AZF region directly cause defective sperm production. Among mutations in chromosome 7, impairments in the cystic fibrosis transmembrane conductance regulator CFTR gene are destructive for fertility in cystic fibrosis, when spermatic ducts undergo complete obstruction. This problem was not previously analyzed in such a form. Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst AZF genes, the deleted in azoospermia DAZ gene family is reported as most frequently deleted AZF. Screening of AZF microdeletions is useful in explaining idiopathic cases of male infertility as well as in genetic consulting prior to assisted reproduction. Based on the current state of research we answer the following questions: (1) How do environmental stressors lessen the quality of sperm and reduce male fertility; (2) which chemical elements induce oxidative stress and immunogenetic changes in the male reproductive system; (3) how do polymorphisms correlate with changes in reproductive potential and pro-antioxidative mechanisms as markers of pathophysiological disturbances of the male reproductive condition; (4) how do environmental stressors of immunogenetic disorders accompany male infertility and responses; and (5) what is the distribution and prevalence of environmental and genetic risk factors.

show abstract

“…Several genes determine spermatogenesis 5,6 . The deleted in azoospermia (DAZ) gene, which was identified by a Y chromosome-specific DNA probe 7 , has been detected in the azoospermia factor (AZF) region c, where microdeletions typically occur 8 .…”

Section: Hypomethylation Of the Daz3 Promoter In Idiopathic Asthenospmentioning

confidence: 99%

Hypomethylation of the DAZ3 promoter in idiopathic asthenospermia: a screening tool for liquid biopsy

Zhang

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Given the role of the deleted in azoospermia gene in male infertility, whether the somatic deleted in azoospermia methylation status is associated with idiopathic asthenospermia should be determined. To investigate the methylation levels of the deleted in azoospermia promoter in peripheral white blood cells from idiopathic asthenospermia patients relative to those in normozoospermia controls, 61 ethylene diamine tetraacetic acid anticoagulant blood samples were drawn from all participants for DNA isolation. The deleted in azoospermia promoter methylation ratio was detected by MassARRAY-based methylation quantification and confirmed by quantitative methylation-specific polymerase chain reaction. A MassARRAY-based methylation analysis showed that the deleted in azoospermia 3 promoter (0 to − 2 kbp) was significantly hypomethylated in peripheral white blood cells from idiopathic asthenospermia males, specifically one CpG site (− 246 to − 247). Quantitative methylation-specific polymerase chain reaction data further confirmed that the methylation level of the deleted in azoospermia 3 promoter region in idiopathic asthenospermia patients was significantly lower than that in normozoospermia males. The area under the receiver operating characteristic curve determined by quantitative methylation-specific polymerase chain reaction was 0.737 (95% confidence interval: 0.552 to 0.924), with a sensitivity of 53.9% and a specificity of 88.2% at a cut-off level of 74.7%. Therefore, our results suggested that methylation ratio detection of the deleted in azoospermia 3 promoter region by real-time polymerase chain reaction assay is a promising and feasible tool for liquid biopsy in the clinical laboratories. The methylation status of other reported infertility-related genes should also be investigated in peripheral white blood cells.

show abstract

Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population

Cited by 15 publications

References 19 publications

Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction

Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction

External and Genetic Conditions Determining Male Infertility

Hypomethylation of the DAZ3 promoter in idiopathic asthenospermia: a screening tool for liquid biopsy

Contact Info

Product

Resources

About