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.

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

Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection

2004 ◽  
Vol 82 (6) ◽  
pp. 1679-1680 ◽  
Author(s):  
Belén Buch ◽  
José Jorge Galán ◽  
Miguel Lara ◽  
Luis Miguel Real ◽  
Manuel Martínez-Moya ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
De Novo ◽  
Y Chromosome Microdeletions

A Real-Time Polymerase Chain Reaction-Based Protocol for Low/Medium-Throughput Y-Chromosome Microdeletions Analysis

2012 ◽  
Vol 16 (12) ◽  
pp. 1349-1355 ◽  
Author(s):  
Ludovica Segat ◽  
Lara Padovan ◽  
Darja Doc ◽  
Vincenzo Petix ◽  
Marcello Morgutti ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Y Chromosome ◽  
Chain Reaction ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain

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. .

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.

The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis

1995 ◽  
Vol 7 (4) ◽  
pp. 685 ◽  
Author(s):  
PH Vogt ◽  
A Edelmann ◽  
P Hirschmann ◽  
MR Kohler
Keyword(s):  
Y Chromosome ◽  
Chromatin Structure ◽  
De Novo ◽  
Screening Programme ◽  
Deletion Mapping ◽  
Azoospermia Factor ◽  
Its Analysis ◽  
Human Y Chromosome

Different Y mutations in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11 by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males (5-20%) may indicate a need for a general screening programme for its analysis in infertility clinics.

scholarly journals Study of Y-Chromosome Microdeletions in Azoospermic Infertile Males using Multiplex PCR Analysis

2018 ◽  
Vol 15 (2) ◽  
pp. 351-357 ◽  
Author(s):  
Prafulla S. Ambulkar ◽  
Sunil S. Pande
Keyword(s):  
Multiplex Pcr ◽  
Y Chromosome ◽  
Pcr Analysis ◽  
Obstructive Azoospermia ◽  
Time Saving ◽  
Pcr Screening ◽  
Azoospermia Factor ◽  
Sts Markers ◽  
Y Chromosome Microdeletions ◽  
Severe Impairment

The infertility affects about 15% of couples and male factors being responsible about 40-50%. In male infertility, genetic abnormalities of Y chromosome play crucial role in spermatogenesis defect. Y chromosome q arm having Azoospermia factor region (AZFa, AZFb, and AZFc) are most important for spermatogenesis. Here, we investigated the frequencies of Y-chromosome microdeletions using three sets of multiplex PCR in idiopathic cases of azoospermia. We studied a total of 110 infertile male with non-obstructive azoospermia subjects & 50 fertile control subjects. All DNA samples were used for Y chromosome microdeletions analysis by using 11 STS markers in three different multiplex PCR of AZF regions. Out of 110 infertile azoospermic males, 14 (12.72%) infertile males showed partial deletion of AZF regions using three sets of multiplex PCR group. In the AZF microdeletions of infertile males, individually AZFc region was the most deletions sites (10%) followed by AZFb (6.36%) and AZFa (1.81%). The sites and sizes of microdeletions differ in all infertile azoospermic males who showed at least two or more STS markers microdeletions. The frequency of Y chromosome microdeletions in our azoospermic infertile males is 12.72%. We conclude that Y chromosome microdeletions frequency in azoospermic infertile males is higher than other infertile group due to severe impairment in spermatogenesis. Multiplex PCR screening of microdeletions is very useful and time saving technique when used more number of STS markers. It will be great help to infertility clinics for genetic counseling and assisted reproduction.

Frequency of Y chromosome microdeletions in Armenian infertile men

2020 ◽  
pp. 54-57
Author(s):  
Г.Р. Шахсуварян ◽  
Р. Караханян ◽  
Т.Ф. Саркисян ◽  
В.Л. Ижевская
Keyword(s):  
Male Infertility ◽  
Ethnic Groups ◽  
Y Chromosome ◽  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
Azoospermia Factor ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Therapeutic Measures

Микроделеции длинного плеча Y-хромосомы являются частой генетической причиной мужского бесплодия, связанного с азооспермией и олигозооспермией. В различных этнических группах частота встречаемости микроделеций Y-хромосомы может существенно варьировать, а их спектр иметь определенные особенности. Целью представленного исследования являлось определение частоты и структуры микроделеционных изменений локуса AZF у мужчин армянской национальности с бесплодием для оптимизации диагностических и лечебных мероприятий с применением вспомогательных репродуктивных технологий. The long arm of the Y chromosome microdeletions are common genetic cause of male infertility, related with azoospermia and oligozoospermia. The frequency of various Y-chromosome microdeletions can vary significantly in different ethnic groups and have certain features. The aim of the presented research is to determine the frequency and spectrum of AZF (azoospermia factor) microdeletions in infertile men of Armenian nationality, in order to optimize diagnostic and therapeutic measures using assisted reproductive technologies.

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