scholarly journals Y chromosome microdeletions in infertile male candidates for microfertilization

2008 ◽  
Vol 136 (3-4) ◽  
pp. 126-130
Author(s):  
Momcilo Ristanovic ◽  
Vera Bunjevacki ◽  
Cane Tulic ◽  
Ivana Novakovic ◽  
Tatjana Ille ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sperm Count ◽  
Gene Mutations ◽  
Control Group ◽  
Specific Primers ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain

Introduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim of the study was to determine the frequency of Y chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection - ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions. METHOD One hundred and sixty patients with low sperm count (less than 5x106 spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. Results Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZFa (8%), and two in AZFbc (17%). Conclusion Testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counselling of infertile couples in Serbia. Decisions regarding the assisted reproduction should be made based on the detailed clinical, endocrinological and cytogenetic examinations, spermogram, presence or absence and type of AZF microdeletions and CFTR gene mutations. .

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 Occurrence of Two Little Cherry Viruses in Sweet Cherry in Washington State

Plant Disease ◽  
2008 ◽  
Vol 92 (2) ◽  
pp. 234-238 ◽  
Author(s):  
N. B. Bajet ◽  
T. R. Unruh ◽  
K. L. Druffel ◽  
K. C. Eastwell
Keyword(s):  
Sweet Cherry ◽  
Prunus Avium ◽  
Washington State ◽  
Replicase Gene ◽  
Specific Primers ◽  
Reading Frame ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Affect Detection ◽  
Polymerase Chain

Little cherry disease, one of the major viral diseases of sweet cherry (Prunus avium) worldwide, is associated with either of two closteroviruses, Little cherry virus 1 (LChV-1) and Little cherry virus 2 (LChV-2). Two sets of primers corresponding to a portion of the replicase gene of LChV-1 and LChV-2 were used in one-tube reverse-transcription polymerase chain reactions to detect these viruses in total RNA extracts of field-collected sweet cherry tissues. LChV-1 and LChV-2 were detected both alone and in combination in five sweet cherry orchards in Washington State. Sequence analysis of a 240-nucleotide (nt) fragment of the replicase open reading frame (ORF)1b and a 232-nt fragment from a portion of ORF8 and the 3′ untranslated region (UTR) of LChV-1 indicated that North American (NA) isolates shared 90 to 99% nucleotide identity in both genome segments analyzed. In contrast, comparisons of NA isolates to two Eurasian isolates of LChV-1 indicated shared nucleotide identities of 79 to 82% in the replicase fragment and 89 to 90% in the ORF8/3′UTR fragment. Sequence variation in the replicase region did not affect detection of LChV-1 in 12 isolates using the replicase-specific primers reported here. This article represents the first report of LChV-1 and LChV-2 in sweet cherry in Washington.

scholarly journals Characteristic Differences in Reverse Transcription-Polymerase Chain Reaction Products of Ovine, Bovine, and Human Respiratory Syncytial Viruses

1993 ◽  
Vol 5 (3) ◽  
pp. 322-328 ◽  
Author(s):  
Richard D. Oberst ◽  
Michael P. Hays ◽  
Jim F. Evermann ◽  
Clayton L. Kelling
Keyword(s):  
Reverse Transcription ◽  
Reaction Products ◽  
Rt Pcr ◽  
Specific Primers ◽  
F Protein ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Respiratory Syncytial Viruses ◽  
Polymerase Chain ◽  
Syncytial Virus

In reverse transcription-polymerase chain reactions (RT-PCR) and DNA hybridizations using primers and an oligonucleotide probe to the fusion (F) protein mRNA of bovine respiratory syncytial virus (BRSV), all the BRSV isolates and a goat isolate could be distinguished from prototype isolates of human respiratory syncytial viruses (HRSV) and ovine (sheep and bighorn sheep) respiratory syncytial viruses (RSV). However, RT-PCR amplifications with primers to sequences of the HRSV F protein mRNA resulted in amplified products of ≍ 243 bp if mRNA templates of subgroup A HRSV strains were present and slightly larger amplified products with subgroup B HRSV strains. No amplified products were observed in HRSV-primed RT-PCR with BRSV or goat or ovine RSV mRNA templates. Although the ovine RSV isolates were antigenically cross-reactive with the goat RSV, HRSV and BRSV isolates, they were not amplified with either HRSV- or BRSV-specific primers in RT-PCR. These results confirm previous immunological comparisons suggesting that some ovine RSV isolates should be considered as distinct respiratory syncytial viruses.

scholarly journals ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers

Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1852-1856 ◽  
Author(s):  
C Gassner ◽  
A Schmarda ◽  
W Nussbaumer ◽  
D Schonitzer
Keyword(s):  
Pcr Amplification ◽  
Abo Blood Groups ◽  
Chain Reaction ◽  
Specific Primers ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Serological Typing ◽  
Modern Molecular Biology ◽  
Specific Nucleotide Sequence ◽  
Polymerase Chain

Serological typing for the classical ABO blood groups is routinely performed using anti-A and anti-B antisera of polyclonal or monoclonal origin, which are able to distinguish four phenotypes (A, B, AB, and O). Modern molecular biology methods offer the possibility of direct ABO genotyping without the need for family investigations. Typing can be done with small amounts of DNA and without detection of blood group molecules on the surface of red blood cells. We developed a system of eight polymerase chain reactions (PCR) to detect specific nucleotide sequence differences between the ABO alleles O1, O2, A1, A2, and B. PCR amplification using sequence-specific primers and detection of amplification products by agarose gel electrophoresis is one of the fastest genotyping methods and is easy to handle. With our method we tested the A1,2BO1,2 genotypes of 300 randomly chosen persons out of a pool of platelet donors and found the results to be consistent with ABO glycosyltransferase phenotypes. We also identified a presumably new ABO allele, which may be the result of a crossing-over event between alleles O1 and A2.

scholarly journals ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers

Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1852-1856 ◽  
Author(s):  
C Gassner ◽  
A Schmarda ◽  
W Nussbaumer ◽  
D Schonitzer
Keyword(s):  
Pcr Amplification ◽  
Abo Blood Groups ◽  
Chain Reaction ◽  
Specific Primers ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Serological Typing ◽  
Modern Molecular Biology ◽  
Specific Nucleotide Sequence ◽  
Polymerase Chain

Abstract Serological typing for the classical ABO blood groups is routinely performed using anti-A and anti-B antisera of polyclonal or monoclonal origin, which are able to distinguish four phenotypes (A, B, AB, and O). Modern molecular biology methods offer the possibility of direct ABO genotyping without the need for family investigations. Typing can be done with small amounts of DNA and without detection of blood group molecules on the surface of red blood cells. We developed a system of eight polymerase chain reactions (PCR) to detect specific nucleotide sequence differences between the ABO alleles O1, O2, A1, A2, and B. PCR amplification using sequence-specific primers and detection of amplification products by agarose gel electrophoresis is one of the fastest genotyping methods and is easy to handle. With our method we tested the A1,2BO1,2 genotypes of 300 randomly chosen persons out of a pool of platelet donors and found the results to be consistent with ABO glycosyltransferase phenotypes. We also identified a presumably new ABO allele, which may be the result of a crossing-over event between alleles O1 and A2.

scholarly journals Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men

2007 ◽  
Vol 64 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Jelena Dinic ◽  
Jelena Kusic ◽  
Аleksandra Nikolic ◽  
Aleksandra Divac ◽  
Momcilo Ristanovic ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Assisted Reproduction ◽  
Sperm Quality ◽  
Gene Mutations ◽  
Cftr Gene ◽  
Common Mutation ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Cftr Gene Mutations

Background/Aim. Impaired fertility of a male partner is the main cause of infertility in up to one half of all infertile couples. At the genetic level, male infertility can be caused by chromosome aberrations or gene mutations. The presence and types of Y chromosome microdeletions and cystic fybrosis transmembrane conductance regulator (CFTR) gene mutations as genetic cause of male infertility was tested in Serbian men. The aim of this study was to analyze CFTR gene mutations and Y chromosome microdelations as potential causes of male infertility in Serbian patients, as well as to test the hypothesis that CFTR mutations in infertile men are predominantly located in the several last exons of the gene. Methods. This study has encompassed 33 men with oligo- or azoospermia. The screening for Y chromosome microdeletions in the azoospermia factor (AZF) region was performed by multiplex PCR analysis. The screening of the CFTR gene was performed by denaturing gradient gel electrophoresis (DGGE) method. Results. Deletions on Y chromosome were detected in four patients, predominantly in AZFc region (four of total six deletions). Mutations in the CFTR gene were detected on eight out of 66 analyzed chromosomes of infertile men. The most common mutation was F508del (six of total eight mutations). Conclusion. This study confirmed that both Y chromosome microdeletions and CFTR gene mutations played important role in etiology of male infertility in Serbian infertile men. Genetic testing for Y chromosome microdeletions and CFTR gene mutations has been introduced in routine diagnostics and offered to couples undergoing assisted reproduction techniques. Considering that both the type of Y chromosome microdeletion and the type of CFTR mutation have a prognostic value, it is recommended that AZF and CFTR genotyping should not only be performed in patients with reduced sperm quality before undergoing assisted reproduction, but also for the purpose of preimplantation and prenatal diagnostics in couples in which in vitro fertilization has been performed successfully.

scholarly journals Differences of Three Ampeloviruses' Multiplication in Plant May Explain Their Incidences in Vineyards

Plant Disease ◽  
2014 ◽  
Vol 98 (3) ◽  
pp. 395-400 ◽  
Author(s):  
Leonardo Velasco ◽  
Josefina Bota ◽  
Rafael Montero ◽  
Enrico Cretazzo
Keyword(s):  
High Throughput Sequencing ◽  
Ion Torrent ◽  
Biological Factors ◽  
Specific Primers ◽  
Chain Reactions ◽  
Endogenous Gene ◽  
Polymerase Chain Reactions ◽  
Grapevine Virus A ◽  
Hop Stunt Viroid ◽  
Polymerase Chain

Grapevine leafroll ampeloviruses have been recently grouped into two major clades, one for Grapevine leafroll associated virus (GLRaV) 1 and 3 and another one grouping GLRaV-4 and its variants. In order to understand biological factors mediating differential ampelovirus incidences in vineyards, quantitative real-time polymerase chain reactions were performed to assess virus populations in three grapevine varieties in which different infection status were detected: GLRaV-3 + GLRaV-4, GLRaV-3 + GLRaV-4 strain 5, and GLRaV-4 alone. Specific primers based on the RNA-dependent RNA polymerase (RdRp) domains of GLRaV-3, GLRaV-4, and GLRaV-4 strain 5 were used. Absolute and relative quantitations of the three viruses were achieved by normalization of data to the concentration of the endogenous gene actin. In spring, the populations of GLRaV-4 and GLRaV-4 strain 5 were 1.7 × 104 to 5.0 × 105 genomic RNA copies/mg of petiole tissue whereas, for GLRaV-3, values were significantly higher, ranging from 5.6 × 105 and 1.0 × 107 copies mg–1. In autumn, GLRaV-4 and GLRaV-4 strain 5 populations increased significantly, displaying values for genome copies between 4.1 × 105 and 6.3 × 106 copies mg–1, whereas GLRaV-3 populations displayed a less pronounced boost but were still significantly higher, ranging from 4.1 × 106 to 1.6 × 107 copies mg–1. To investigate whether additional viruses may interfere in the quantifications the small RNA populations, vines were analyzed by Ion Torrent high-throughput sequencing. It allowed the identification of additional viruses and viroids, including Grapevine virus A, Hop stunt viroid, Grapevine yellow speckle viroid 1, and Australian grapevine viroid. The significance of these findings is discussed.

P–020 AZFc partial microdeletions of the Y chromosome is associated with severe oligozoospermia among Iranian men

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Z AzarAfshar ◽  
M A Sadigh. Gilani ◽  
A Ghaheri ◽  
M R Zamanian
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Sperm Count ◽  
Control Group ◽  
Severe Oligozoospermia ◽  
Factors Affecting ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Registration Number ◽  
History Of

Abstract Study question Are AZFc partial deletions correlated with severe oligozoospermia in Iranian men? Can we consider them as risk factors for infertility? Summary answer The frequency of total partial AZFc microdeletions was significantly higher in the oligozoospermia group compared to control group (8% vs. 3%, P = 0.028). What is known already Among many factors affecting male infertility, the second most common genetic factor is Y chromosome microdeletion. Some studies on partial AZFc microdeletions (especially on three major types; gr/gr, b1/b3 and b2/b3) have associated them with impaired spermatogenesis (azoospermia and oligozoospermia) in infertile men from different ethnicities. This finding is attributed to differences in alterations in pattern of DAZ/CDY1 copy numbers as spermatogenesis related genes. Study design, size, duration 200 oligozoospermic (sperm count <5 mil./mL) and 200 fertile men were included as case and control groups, respectively. Individuals with karyotype abnormalities, complete microdeletions in AZF regions, infections, hypogonadism, history of chemotherapy and radiation, cryptorchidism or history of orchiopexy were not included. The study was approved by the Royan Institute Ethics Committee. Written informed consents were obtained from each participant. Participants/materials, setting, methods Total DNA from peripheral blood was used to amplify six sequence-tagged sites (STS) markers through multiplex PCR to detect AZFc partial deletions according to previous studies. Patterns of deletion in DAZ and CDY1 copies were determined through PCR- RFLP. Main results and the role of chance The frequency of AZFc partial microdeletions was 8% in oligozoospermic men (16/200) which was significantly higher compared to 3% in control group (6/200) (P = 0.028). Hence, partial deletions may be considered as a risk factor for the male infertility in Iranian population. Also, gr/gr showed a higher frequency in oligozoospermic group (4%) compared to controls (1.5%) (P = 0.126). The combination of DAZ1/2+CDY1b was the most observed deletion pattern in 8 oligozoospermic men with gr/gr deletion (75%), while among 3 controls with gr/gr, DAZ3/4+CDY1a (2 out of 3) and DAZ3/4+CDY1b (1 out of 3) were detected. Therefore, DAZ1/2+CDY1b can be correlated to oligozoospermia. Limitations, reasons for caution In order to achieve stronger statistical results, a larger sample size is of more help. Wider implications of the findings: Risk of vertical transmission to male offspring and expansion in the size of deletions should be considered when providing ART services to infertile men. Genetic counseling is suggested in oligozoospermic men. Trial registration number -

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

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