A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions

Zheng, Hongyun; Li, Yan; Shen, Fujin

doi:10.1007/s10815-014-0204-5

Cited by 12 publications

(9 citation statements)

References 19 publications

(27 reference statements)

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“…This variation depends on mosaic cell line of 45,X and also the percentage of SRY-positive cells in the gonads [7]. As a result, in the mosaic patient, dominant cell line seem to be influencing the sex phenotype irrespective of the proportion of the Y-cell line [8][9][10].…”

Section: Discussionmentioning

confidence: 99%

“…Genome-wide all chromosomes were also identified by Agilent SurePrint G3 Human CGH 60K MicroArray Platform (Agilent Technologies, CA, United States) chromosomal microarray analysis for the advance detection of affected gene or genes in the chromosomal break points for the presented case( Figure 3). After using of all comparable techniques the current infertile man wad diagnosed as mos46,X,idic(Y)(pter->q12::q12->pter) (92)/45,X (8).Some eigth sequence-tagged sites (STS) sY85, G34990, sY133, sY127, sY254, sY255 were deleted after multiplex fragman PCR analysis ( Figure 2B). …”

Section: Case Reportmentioning

confidence: 99%

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A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Özdemir¹,

Paksoy²,

Karakaya³

et al. 2017

Biomed Genet Genomics

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Objective: Structural Y chromosome abnormalities such as; DAZ, AZF and sY152 deletion play a key role in the genetic etiology of male infertility. Here we used comparable techniques to determine the characteristics of Y chromosome microdeletions and/or duplications in an infertile man in the current report. Methods:In the diagnosis of the current case, we used and compared different well optimised techniques such as; standard cytogenetic C and GTG banded karyotypes, flourescence in-situ hybridization (FISH), QF-PCR, a multiplex fragman PCR analysis for standarized of eigth sequence-tagged site (STS) and microarray comparative genomic hybridization (aCGH) methods for detection of Y chromosome duplications and microdeletions.Results: In the current thirty-year-old infertile male report, we present a detailed molecular-cytogenetic characterization of an individual with mosaicism involving an isodicentric Y chromosome and some phenotypic features. He was in tall stature, microtestis, delayed speech and increased gonadotropins (levels) [(FSH(20 miU/ ml,5), LH(15.3 miU/ml, N:1.8-9) and prolactin (15 ng/ml, N:4-16)] and azoospermia clinically. He was identified mos46,X,idic(Y)(pter->q12::q12->pter) (92)/45,X(8) karyotype after comparable refine genetic methods. SRY, SHOX and amelogenin genes were duplicated and AZF, C band positive region of q arm were deleted in the current azoospermic male. Conclusion:The comparable multiplex QF-PCR, karyotyping and microArray-CGH techniques are capable to detect all structural Y chromosome anomalies in diagnosis and prior to artificial reproduction techniques (ART) in male infertility.

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Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Özdemir¹,

Paksoy²,

Karakaya³

et al. 2017

Biomed Genet Genomics

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“…Generally, identifying and diagnosing microdeletions can help physicians to prevent patients from undergoing experimental and often costly treatments for infertility and also provides information that makes it possible to find sperm in azoospermic men's testes and freeze oligospermic men's sperm ( 7 ). More clearly, it is highly important to investigate these microdeletions to detect microdeletions in question before undergoing ICSI, contribute to treatments for infertility, conduct genetic experiments on azoospermic and oligospermic men, screen sperm before donating it to the sperm bank and population genetics, and enhance the speed of discovering and identifying the Y chromosome microdeletions in different countries and regions ( 54 ).…”

Section: Discussionmentioning

confidence: 99%

Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia

Gholami

Jafari-Ghahfarokhi

Nemati-Dehkordi

et al. 2017

IJRM

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Background:Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm.Objective: The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province.Materials and Methods: A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF) region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated.Results:The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group). Most deletions (3.7%) were seen in the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics.Conclusion:Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.

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“…This classification is based on structural observation which found that AZFb and c partially overlapped. This region of overlap is now called azoospermic factor of region "d" AZFd and is located between AZFb and AZFc [84,85]. Depending on the location of the AZF microdeletion, the phenotypes vary from mild (<15 × 10 6 spermatozoa × mL −1 ) or severe (<5 × 10 6 spermatozoa × L −1 ) oligozoospermia to azoospermia (complete lack of sperm cells in ejaculation) [19,81].…”

Section: Microdeletions In the Azoospermic Factor Azf Regionmentioning

confidence: 99%

External and Genetic Conditions Determining Male Infertility

Kamiński

Baszyński

Jerzak

et al. 2020

IJMS

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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.

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A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions

Cited by 12 publications

References 19 publications

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus

Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia

External and Genetic Conditions Determining Male Infertility

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