scholarly journals Analysis of Y Chromosome Microdeletion and Karyotype in 516 Patients With Azoospermia

2020 ◽  
Author(s):  
Lihua Wu ◽  
Jingjing Hu ◽  
Yiqun He ◽  
Yicong Zhang ◽  
Kailing Liang ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosome Abnormality ◽  
Karyotype Analysis ◽  
Detection Methods ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletion ◽  
Abnormal Rate ◽  
Polymerase Chain ◽  
Conventional Cytogenetics ◽  
Fluorescent Polymerase Chain Reaction

Abstract Background: To investigate the correlation between Y chromosome microdeletion and cytogenetic analysis in patients with azoospermia.Methods: A total of 516 patients with azoospermia were enrolled from March 2015 to December 2019. Karyotype analysis(G-banding) was performed with peripheral blood.Y-chromosome azoospermia factor (AZF) were detected by quantitative fluorescent polymerase chain reaction (QF-PCR).Results: Chromosome abnormality was detected in 66 of the 516 azoospermia patients, with an abnormal rate of 12.8% In addition, 7.8% cases(40/516) presented with Y-chromosome AZF microdeletions, in which 27 cases patients with karyotype of 46,XY(67.5%,27/40) and 13 cases of chromosome abnormalities (32.5%,13/40).Conclusion: The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46,XY. Conventional cytogenetics cannot directly reflect the microdeletions of Y chromosome. Therefore, the combination of this two detection methods can help to clarify the genetic causes of patients with azoospermia and provide a theoretical basis for clinical assisted reproductive technology.

scholarly journals Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report

2021 ◽  
Author(s):  
Reza Mohammadi ◽  
Raheleh Taheri ◽  
Fatemeh Shahriyari ◽  
Farnaz Feiz ◽  
Zahra Mohammadi ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
Array Cgh ◽  
De Novo ◽  
Karyotype Analysis ◽  
Marker Chromosome ◽  
Male Fetus ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction

Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes. sSMCs are categorized as hereditary or de novo. Here, we describe a case of prenatal de novo 4q11q12 sSMC and its molecular cytogenetic features which had no apparent phenotypic abnormality. Case: The fetus of a 36-yr-old pregnant woman was detected positive for Down’s syndrome (trisomy 21) at the 16th wk of gestation. Quantitative fluorescent polymerase chain reaction technique was applied for the rapid detection of numerical aneuploidy of chromosomes X, Y, 13, 18, and 21 microsatellites. Array comparative genomic hybridization (array CGH) technique was also conducted following the karyotype analysis of amniotic cells. The karyotype analysis was also done for the parents. Quantitative fluorescent polymerase chain reaction result revealed a male fetus with a normal chromosomal pattern, while the amniocentesis karyotype analysis identified a male fetus with a marker chromosome (47, XY, +mar), and the sSMC were existing in 100% of amniocyte metaphase spreads. The parents’ normal karyotypes indicated that the sSMC was de novo. Array CGH analysis revealed a 6.48-Mb duplication at 4q11q12. Eventually, the parents decided to terminate the pregnancy by legal abortion. Conclusion: Our study highlights the importance of the application of array CGH in combination with karyotype analysis for rapid and precise prenatal diagnosis of partial aneuploidy region.  Key words: Prenatal diagnosis, Array CGH, Chromosome 4, Chromosome markers.

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

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.

ART do not increase the risk of Y-chromosome microdeletion in 19 candidate genes at AZF regions

2014 ◽  
Vol 26 (6) ◽  
pp. 778 ◽  
Author(s):  
Xiao-Hong Liu ◽  
Li-Ying Yan ◽  
Cui-Ling Lu ◽  
Rong Li ◽  
Xiao-Hui Zhu ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Y Chromosome ◽  
De Novo ◽  
Statistical Significance ◽  
Chinese Han ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletion ◽  
Han Ethnicity ◽  
Significant Difference ◽  
Natural Conception

Y-chromosome microdeletions (YCMs) have been found at a much higher rate in infertile men than fertile controls. A specific deletion in the azoospermia factor locus (AZF) at Yq11 is significantly associated with male infertility. Whether assisted reproductive technology (ART) increases the risk of YCM in ART-derived offspring remains unclear. In this study the occurrence of YCM in 199 fathers and their 228 sons (Chinese, Han ethnicity), including 85 offspring conceived by IVF, 73 by intra-cytoplasmic sperm injection (ICSI) and 70 by natural conception, was investigated. Nineteen candidate genes related to YCM were analysed by multiplex ligation-dependent probe amplification. We identified one de novo YCM from 70 naturally-conceived offspring and none from 158 ART-conceived offspring and found no statistical significance between these two groups. There was no statistically-significant difference in the detection rate of the father’s Y-chromosome microdeletion group: IVF 10.7% (8/75), ICSI 3.2% (2/63), natural conception 8.2% (5/61). These results suggest that ART does not increase the risk of YCM in male offspring.

scholarly journals Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities

2017 ◽  
Vol 46 (1) ◽  
pp. 307-315 ◽  
Author(s):  
Yuan Pan ◽  
Hong-guo Zhang ◽  
QI Xi ◽  
Han Zhang ◽  
Rui-xue Wang ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosome Abnormality ◽  
Karyotype Analysis ◽  
Northeastern China ◽  
Chromosome Abnormalities ◽  
Infertile Male ◽  
Metaphase Chromosomes ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Male Patients

Objectives To investigate azoospermic factor (AZF) microdeletions in infertile men from northeastern China with karyotypic Y chromosome abnormalities. Methods G-banding of metaphase chromosomes and karyotype analysis were performed in all infertile male patients. Genomic DNA was isolated and used to analyze classical AZF microdeletions by PCR. The regions and sequence-tagged sites of AZFa (SY86, SY84), AZFb (SY127, SY134, SY143), and AZFc (SY152, SY254, SY255, SY157) were sequenced by multiplex PCR. Results A total of 190 Y chromosome abnormality carriers were found, of whom 35 had AZF microdeletions. These were most common in 46,X,Yqh− patients, followed by 45,X/46,XY patients. Most microdeletions were detected in the AZFb + c region, including 48.57% of all AZF microdeletion cases. AZF partial deletions were also seen in these patients. Overall, AZF microdeletions were detected in 38.5% Y chromosome abnormality carriers, and most were observed in 46,X,Yqh− individuals. Loss of SY152 was seen in all 35 patients, with SY254/SY255 detected in 34 of 35 patients. Conclusions AZF microdeletions were detected in 38.5% of Y chromosome abnormality carriers. This indicates that AZF microdeletion screening is advisable for individuals with karyotypic Y chromosome abnormalities.

scholarly journals Screening for Y Chromosome Microdeletion in a Nonobstructive Azoospermic Male Patient with Allogeneic Bone Marrow Transplantation from His Sister

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Hakan Gurkan ◽  
Faruk Kucukdurmaz ◽  
Tolga Akman ◽  
Filiz Aydın ◽  
Ates Kadioglu
Keyword(s):  
Bone Marrow ◽  
Polymerase Chain Reaction ◽  
Bone Marrow Transplantation ◽  
Y Chromosome ◽  
Genomic Dna ◽  
Multiplex Polymerase Chain Reaction ◽  
Dna Isolation ◽  
Chain Reaction ◽  
Y Chromosome Microdeletion ◽  
Polymerase Chain

Genomic DNA of a patient diagnosed with nonobstructive azoospermia and with the history of allogenic bone marrow transplantation from his sister due to chronic myeloid leukemia was isolated from peripheral blood in order to screen Y chromosome microdeletions. 13 short tagged sites belonging to AZF a, b, and c loci were detected with multiplex polymerase chain reaction technique. Bands were determined in ZFX/ZFY wells, whereas no bands were determined in wells of other STS regions. DNA isolation was done from buccal mucosa smear to obtain genomic DNA from patient's own cells and multiplex polymerase chain reaction technique was performed again. Bands were seen in all wells of 13 STS regions. Y chromosome microdeletion was not detected in the patient. In conclusion, genomic DNA isolation in patients undergoing BMT should be done from patients' own cells.

scholarly journals Expansion and De Novo Occurrence of Y Chromosome Microdeletions Occurring via Natural Vertical Transmission in Northeastern China

2012 ◽  
Vol 40 (3) ◽  
pp. 1182-1191 ◽  
Author(s):  
R-L Dai ◽  
L-K Sun ◽  
X Yang ◽  
L-L Li ◽  
H-B Zhu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
De Novo ◽  
Reproductive Hormones ◽  
Northeastern China ◽  
Enzyme Linked Immunosorbent Assay ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain ◽  
Primary Male ◽  
Negative Controls

OBJECTIVE: To determine characteristics of classical and partial deletions of the Y chromosome azoospermia factor (AZF) region transmitted from father to son by natural fertilization. METHODS: Patients from northeastern China with primary male infertility ( n = 10) and their fathers were investigated. Healthy fertile men and women were recruited as positive and negative controls, respectively. The Y chromosome microdeletions were detected by polymerase chain reaction. Serum concentrations of reproductive hormones were determined by electrochemiluminescence immunoassay and enzyme-linked immunosorbent assay. RESULTS: Expansions of microdeletions were observed in seven father-son pairs; de novo microdeletions were found in the remaining three father-son pairs. The Y chromosome microdeletions were larger in sons than in their fathers. Patients with infertility had significantly higher levels of follicle stimulating hormone and lower levels of inhibin B than fertile men. CONCLUSIONS: The Y chromosome micro deletions were transmitted from father to son via natural transmission. These microdeletions may expand during transmission or arise de novo, possibly resulting in reduced fertility.

scholarly journals Triplex Real-time Polymerase Chain Reaction Optimization for AZF Y-chromosome Microdeletion Analysis

2015 ◽  
Vol 19 (2) ◽  
Author(s):  
Tatiana Puga Torres ◽  
Xavier Blum Rojas ◽  
Medardo Blum Narváez ◽  
Edith López Montanero ◽  
Alexandra Narváez Sarasti
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Y Chromosome ◽  
Chain Reaction ◽  
Y Chromosome Microdeletion ◽  
Reaction Optimization ◽  
Polymerase Chain

scholarly journals Cellular and Molecular Genetic Analysis of 1980 Male Infertility Patients

2021 ◽  
Author(s):  
Meimei Fu ◽  
Meihuan Chen ◽  
Nan Guo ◽  
Min Lin ◽  
Ying Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Karyotype Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Common Type ◽  
Azoospermia Factor ◽  
Deletion Rate ◽  
Karyotype Abnormality ◽  
Infertility Patients

Abstract Background The aims of this study were to investigate the distribution of chromosome karyotype abnormality and azoospermia factor (AZF) microdeletion on Y chromosome in male infertility patients and its effect on infertility. Further, the study aimed to guide fertility in patients. Methods A total of 1980 azoospermic and oligoospermic male infertility patients were selected from the male outpatient department of our hospital from January 2016 to December 2019. Peripheral blood was collected from the patients for karyotype analysis. Further, AZF microdeletion analysis on Y chromosome was performed by capillary electrophoresis. Results Among the patients of male infertility, 178 had chromosomal abnormality (8.99%, 178/1980). Among them, 98 had an abnormal chromosome number. Among the 98 patients, 47, XXY was the most common (80 cases), accounting for 44.99 % (80/178) of abnormal karyotypes. There were 211 cases of AZF microdeletion on Y chromosome, with a total deletion rate of 10.66% (211/1980). The most common type was AZFb/c deletion (sY1192 140 cases), accounting for 66.3 % (140/211). Conclusion Karyotype abnormality and AZF gene microdeletion are important causes of male infertility. Men with Yqh-, del(Y) (q11) have a higher risk of AZF microdeletion. Infertility patients should routinely undergo cell and molecular genetic tests to guide patient fertility.

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