scholarly journals Genetics of male infertility and related genes within Y chromosome

2019 ◽  
Vol 6 (11) ◽  
pp. 288-291
Author(s):  
Tutku Melis Aygün
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Factors ◽  
Review Article ◽  
Structural Abnormality ◽  
Related Gene ◽  
Y Chromosome Microdeletions ◽  
Structural Abnormalities ◽  
Gene Functions ◽  
Infertile Couples

Objective:  The infertility is a reproductive health problem that affects nearly 7% of all couples in the human population. It has been estimated that nearly 50% of infertility cases are due to genetic defects. Male infertility may be contributory to 30 - 40 % of infertile couples. Male infertility focuses on genetic factors impairing spermatogenesis and structural abnormalities such as Y chromosome microdeletions. The Y chromosome microdeletions are the most frequent genetic cause of male infertility. In this review article, we will focus on the structural abnormality and related gene functions on infertility.  

scholarly journals The Spectrum of Common Mutations in CFTR, AR Gene, and the Y Chromosome Microdeletions and Karyotyping Abnormalities in Phenotypic Male with Very Severe Oligozoospermia

2021 ◽  
Author(s):  
kyumars safinejad ◽  
Leyla Jafari ◽  
Mahboobeh Nasiri ◽  
Mansour Heidari ◽  
Massoud Houshmand
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Gene Mutation ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Compound Heterozygous ◽  
Structural Abnormality ◽  
Severe Oligozoospermia ◽  
Cag Repeat Expansion ◽  
Y Chromosome Microdeletions

Abstract Male infertility due to very severe oligozoospermia has been associated with a number of genetic risk factors.This association in patients with sperm concentration lower than 1× 106 ml are not yet fully studied.The present study aims to investigate the distribution of the mutations in the CFTR gene, the CAG repeat expansion of the AR gene as well as Y chromosome microdeletions and karyotyping abnormalities in very severe oligozoospermia patients from the Iranian population. In the present case-control study 200 severe oligozoospermia and 200 fertile males were enrolled. All patients karyotyped for diagnosis of the chromosomal abnormalities using routine. Microdeletions were evaluated using multiplex PCR. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The CAG repeat expansion in the AR gene was evaluated for the number of repeats in each patient using sequencing. Overall, 4% of cases have a numerical and structural abnormality. 7.5% of patients had a deletion in one of the AZF regions on Yq, and 3.5% had a deletion in two regions. F508del was the most common (4.5%) CFTR gene mutation, G542X, and W1282X were detected with 1.5% and 1% respectively. One patient was found to have AZFa microdeletion and F508del in heterozygote form; one patient had AZFb microdeletion with F508del. F508del was seen as compound heterozygous with G542X in one patient and with W1282X in the other patient. The difference in the mean of the CAG repeat in the AR gene in patients and controls were statistically significant (P = 0.04). Our study shows that ICSI in couples with very severe oligozoospermia can lead to an increase in children who are at risk of unbalanced chromosomal complement, male infertility due to transmission of Y-chromosomal microdeletion , AR- CAG repeat and cystic fibrosis if both partners carry the CFTR gene mutation. Genetic testing and counseling before considering ICSI is suggested for these couples.

scholarly journals Current Status of Y Chromosome Microdeletions: Prevalence, Distribution, Implication and Association with Male Infertility in Indian Men- A Review

2021 ◽  
Author(s):  
Mandava V Rao ◽  
Nidhi P Shah ◽  
Rutvik J Raval ◽  
Pooja P Solanki ◽  
Parth S Shah ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Selection Criteria ◽  
Study Groups ◽  
Current Status ◽  
Testicular Sperm ◽  
Y Chromosome Microdeletions ◽  
Geographical Regions ◽  
Infertile Couples ◽  
Indian Men

Introduction: Infertility affects about 15% of couples attempting pregnancy and in approximately 50% of these cases, male factors are responsible. Male infertility is clinically characterised by azoospermia and oligozoospermia depending on the amount of loss of genetic material and the size of the affected region on the Y Chromosome Microdeletions (YCM). The majority of genes located in the Y chromosome are involved in male related functions such as spermatogenesis in human, in addition to other endocrine and physiological factors. These microdeletions are located on q arm of Y chromosome, specifically Azoospermia Factor (AZF) region, hence called Yq microdeletions. These deletions are in form of complete/ incomplete, recombination; mutations and Copy Number Variations (CNV) and vary in frequency depending on region, ethnicity, lifestyles and other epigenetic factors. Hence, this study is well reviewed in Indian men with infertility caused by AZF a,b,c and other partial deletions. So, it is important to the one who is affected by these mutations and infertile couples who adopt Assisted Reproductive Technologies (ARTs) after counseling. It is further useful for prediction of testicular sperm retrieval chances. Aim: To review the current status of Yq microdeletion frequency in infertile Indian men with the available data and their correlation with testicular phenotypes as well as other factors. These would also reckon as a supportive to other clinical findings for diagnosis of specific deletion of infertility to adopt ARTs to the infertile couple. Materials and Methods: Various studies including our data were collected to European Molecular Genetics Quality Network (EMQN) as well as analyse these Yq microdeletions screened using specific Sequence Tagged Sites (STS) of available kit like European Academy of Andrology (EAA) and non-EAAs using Polymerase Chain Reaction (PCR) technology. Various researchers from various zones of India contributed to microdeletion screening of Y chromosome using various STS to AZF locus. These data from 30 study groups were compared to geographical areas/zones, Indian populations, environment, selection criteria and other factors in this review. Results: The data on thousands of Y chromosome analysis confirmed that the frequency of microdeletions are affected by sample size, selection criteria of subjects, different geographical regions, ethnicity, Oxidative Stress (OS), Deoxyribonucleic Acid (DNA) fragmentation and food styles in addition to genetic defects. In Indian subcontinent, these deletions contribute to 8.33% from screening of 5435 Y chromosomes (453/5435). Lower percent (5.37%) of Yq microdeletions in Western India than other parts was observed, being highest in South East (20.52%) and North East zones (17.77%) as mentioned in the present study. These variations in Yq microdeletions are attributed to geographic region, foodstyle, other environmental factors and others. AZFc deletions were more prevalent and correlated to azoospermia (referred/ selected, 66%; deleted 61%) from 30/15 citations respectively in present cohort over oligospermic and/or severe oligospermic men followed by b and a sub-regions including b+c, a+b and others in AZF locus. Amongst 30 study groups, 27 exhibited AZFc deletions at higher rate. Conclusion: From these data in India, it was hence noticed that screening of Yq microdeletion is an important criterion and its correlation with spermeograms is very necessary to infer degree of infertility in men. Such cases are strongly suggested to undergo genetic counselling before adoption of ARTS as deletions increase risk of genetic anomalies, low birth weight and congenital malformations in New Births (NB) of Intracytoplasmic Sperm Injection and Testicular Sperm Ejaculates (ICSI/TESE) adopted cases. Thus, Y deletion evaluation reckons the diagnosis of type of male infertility and its prevention in the next generation propagation through ARTs adopting infertile couples after counselling.

Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study

Andrologia ◽  
2017 ◽  
Vol 50 (3) ◽  
pp. e12938 ◽  
Author(s):  
E. P. de Sousa Filho ◽  
D. M. Christofolini ◽  
C. P. Barbosa ◽  
S. Glina ◽  
B. Bianco
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Y Chromosome Microdeletions

Y chromosome microdeletions and male infertility: who should be tested and why?

2006 ◽  
Vol 97 (3) ◽  
pp. 441-443 ◽  
Author(s):  
LUIS REYES-VALLEJO ◽  
STEPHEN LAZAROU ◽  
ABRAHAM MORGENTALER
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Y Chromosome Microdeletions

scholarly journals Novel Variants in HFM1 Lead to Male Infertility Due to Non-obstructive Azoospermia

2021 ◽  
Author(s):  
Dongdong Tang ◽  
Mingrong Lv ◽  
Yang Gao ◽  
Huiru Cheng ◽  
Kuokuo Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Testicular Biopsy ◽  
Severe Form ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Gene Variation ◽  
Y Chromosome Microdeletions ◽  
Whole Exome

Abstract Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility. More than half of the NOA patients were idiopathic for their etiology, in whom it’s difficult to retrieve sperm despite the application of microsurgical testicular sperm extraction (microTESE). Therefore, we conducted to this study to identify the potential genetic factors responsible for NOA, and investigate the sperm retrieval rate of microTESE for the genetic defected NOA.Methods One NOA patient from a consanguineous family (F1-II-1) and fifty NOA patients from non-consanguineous families were included in the study. Semen analyses, chromosome karyotypes, screening of Y chromosome microdeletions, sex hormone testing, and subsequent testicular biopsy were performed to categorize NOA or obstructive azoospermia. Potentialgenetic variants were identified by whole exome sequencing (WES),and confirmed by Sanger sequencing in F1 II-1. The candidate genes were screened in the other fifty NOA patients. Further experiments including quantitative real time-polymerase chain reaction and western blotting were performed to verify the effects of gene variation on gene expression.Results Normal somatic karyotypes and Y chromosome microdeletions were examined in all patients. Hematoxylin and eosin staining (H&E) of the testicular tissues suggested meiotic arrest, and a novel homozygous HFM1 variant (c.3490C>T: p.Q1164X) was identified in F1 II-1. Furthermore, another homozygous HFM1 variant (c.3470G>A: p.C1157Y) was also verified in F2 II-1 from the fifty NOA patients. Significantly decreased expression levels of HFM1 mRNA and protein were observed in the testicular tissues of these two mutants compared with controls. MicroTESE was performed in these two patients, while no sperm were retrieved. Conclusions Our study identified two novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, even microTESE can not contribute to retrieve sperm in these patients.

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 Comprehensive Genetic Testing for Female and Male Infertility UsingNext Generation Sequencing

2018 ◽  
Author(s):  
Bonny Patel ◽  
Sasha Parets ◽  
Matthew Akana ◽  
Gregory Kellogg ◽  
Michael Jansen ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Healthcare Providers ◽  
Turnaround Time ◽  
Single Nucleotide Variants ◽  
Clinical Sensitivity ◽  
Y Chromosome Microdeletions ◽  
Generation Sequencing ◽  
Sex Chromosome Aneuploidies

AbstractObjectiveTo develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols.DesignRetrospective analysis of results from 118 DNA samples with known variants in loci representative of female and male infertility.Interventions(s)NoneMain Outcome Measure(s)Next-Generation Sequencing (NGS) of 87 genes including promoters, 5’ and 3’ untranslated regions, exons and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions are analyzed concomitantly using the same panel.ResultsAnalytical accuracy was >99%, with >98% sensitivity for Single Nucleotide Variants (SNVs) and >91% sensitivity for insertions/deletions (indels). Clinical sensitivity was assessed with samples containing variants representative of male and female infertility, and it was 100% for SNVs/indels, CFTR IVS8-5T variants, sex chromosome aneuploidies and Copy Number Variants (CNVs), and >93% for Y chromosome microdeletions. Cost analysis comparing the NGS assay with standard, multiple analysis approach, shows potential savings of $2723 per case. Conclusion: A single, comprehensive, NGS panel can simplify the ordering process for healthcare providers, reduce turnaround time, and lower the overall cost of testing for genetic assessment of infertility in females and males, while maintaining accuracy.

scholarly journals Observational study of Y chromosome microdeletion, EAA markers and non EAA markers in Chhattishgarh

2021 ◽  
Vol 8 (3) ◽  
pp. 310-313
Author(s):  
Manisha B Sinha ◽  
Suprava Patel ◽  
Nilaj Bagde ◽  
H P Sinha ◽  
Apoorva Joshi
Keyword(s):  
Observational Study ◽  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Factors ◽  
Semen Analysis ◽  
Geographic Location ◽  
Inclusion Criteria ◽  
Y Chromosome Microdeletion ◽  
Infertile Men ◽  
Single Deletion

Genetic factors contribute to 15% of all causes of male infertility. Y chromosome microdeletion is the second most common genetic cause of male infertility. Screening is important for Yq microdeletion as the defect can be transferred to offspring. Aim of our study is to detect the frequency of Y chromosome microdeletion in idiopathic infertile men using both EAA and non EAA markers in central region of India. Forty men from infertility clinic, seeking treatment of infertility were recruited in the study as cases. Thirty normal fertile men of same origin were recruited as controls. Semen analysis was done and cytogenetic normal infertile men were included in the study. Simplex and multiplex PCR methods were used to detect Yq microdeletions. Frequency of deletion was 11/40 (27.5%). Single deletion of AZF a,b,c were 12.5%, 7.5%, 2.5% respectively (). Double deletions of AZF a+c and b+c were 2.5% each (). Two subjects showed deletion for more than one loci. Overall frequency of deletion depends on sample size, no of markers used, inclusion criteria of subjects and geographic location. So, the screening is important for Yq microdeletion as the defect may be inherited to offspring.

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