Microdeletion of the azoospermia factor in the Yq of the Y chromosome is one of the important causes of male infertility. Complete deletion of the AZFc region (b2/b4 deletion) is the most common type of AZF deletion. Recent studies have shown a variety of deletions of the AZFc region, including partial deletions, such as gr/gr deletion, b1/b3 deletion and b2/b3 deletion, which may also be associated with male infertility.
Chromosome Deletion ; Chromosomes, Human, Y ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Seminal Plasma Proteins ; genetics

OBJECTIVETo study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.

METHODSPeripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.

RESULTSThe karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.

CONCLUSIONThe cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.

Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Seminal Plasma Proteins ; genetics

Recently, intracytoplasmic sperm injection (ICSI) has been extremely successful in the treatment of male infertility. However, the consequent transmission of sperm cytogenetic defects and genetic defects to the offspring has aroused considerable concern. Among infertile men, those with severe spermatogenic defects, including oligozoospermia and azoospermia, are mostly the subjects for ICSI. Therefore it is very important to obtain cytogenetic and chromosomal information on these infertile patients and prevent the inheritance of these genetic defects. This review offers an analysis on the genetic defects among infertile men.
Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; therapy ; Male ; Seminal Plasma Proteins ; genetics ; Sperm Injections, Intracytoplasmic

OBJECTIVEScreening for Y chromosomal microdeletions in azoospermia factor (AZF) region with modified multiplex PCR.

METHODS160 cases with spermatogenetic failure were recruited in the experimental group, while 90 cases of donors in controls. According to the laboratory guidelines supported by European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN), Y chromosomal microdeletions in AZFa, b, c regions were screened with multiplex PCR. The primers of sequence targeted sites (STSs) and conditions of PCR were modified.

RESULTSUsing modified multiplex PCR, 14 (8.75%) cases with Y chromosomal microdeletions were found in the experimental group, while no case in controls. There were 12 cases in AZFc, 1 case in AZFa + b + c, 1 case in AZFb + c. According to statistics, the difference between two groups was significant (P <0.001). Reaction products could be clearly separated with agarose gel and finished in 1 h.

CONCLUSIONModified multiplex PCR protocols supported by EAA and EMQN proved to be very accurate, sensitive and quick, which could be put into screening practice for Y chromosomal microdeletions in AZF region.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Male ; Polymerase Chain Reaction ; methods ; Seminal Plasma Proteins ; genetics

OBJECTIVETo analyze the characteristics of azoospermia factor(AZF) deletions in Y-chromosome.

METHODSBased on the AZF microdeletion screening on 272 cases of azoospermia and 240 cases of severe oligozoo spermia, 49 cases were investigated using 23 sequence-tagged sites (STS) in AZFa, AZFb and AZFc. For some cases, single nucleotide rarians (SNV) method was applied to identify the single nucleotide polymorphism (SNPs) in four DAZ gene copies and to determine the copy number of the DAZ gene.

RESULTSIn 6 cases with deletions of AZFb+c, there was 1 case with sY98/sY1206 deletion, 4 cases with P5/distal-P1 recombination and 1 with P4/distal-P1 recombination. In 3 cases with deletions in AZFb, 1 case showed P5/P3 deletion and 2 cases showed P5/proximal-P1 recombination with DAZ1 and DAZ2 deletions. b2/b4 recombination was observed in all the 40 cases with deletions in AZFc. A fraction of patients with AZFb and AZFb+c deletions showed oligospermia and spermatogenic failure by testicular biopsy.

CONCLUSIONBreakpoint localization of deletions in AZF regions may help elucidating the mechanisms of microdeletions, and analysis of the characteristics and quantity of deleted genes essential for normal spermatogenesis may evaluate the association of phenotype with spermatogenic failure.

Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Deleted in Azoospermia 1 Protein ; Gene Dosage ; Genetic Loci ; Humans ; Male ; Oligospermia ; genetics ; physiopathology ; RNA-Binding Proteins ; genetics ; Seminal Plasma Proteins ; genetics ; Spermatogenesis

OBJECTIVETo study the incidence of the chromosome abnormalities and Y chromosome microdeletions in Chinese patients with azoospermia and cryptozoospermia.

METHODSConventional chromosomal karyotyping was used to analyze the chromosome abnormalities. Genomic DNA was extracted from peripheral blood samples and multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. A total of 997 patients with azoospermia and cryptozoospermia were enrolled in the study.

RESULTSThe incidence of chromosome abnormalities in the patient with azoospermia and cryptozoospermia was 28.4%. The major abnormal karyotypes included 47,XXY, 46,XY (Y>G), 46,XX, chimera and translocations. The incidence of the Y chromosome microdeletions was 17.4%. They were mainly found in the karyotypes of 46,XY and 46,XY (Y>G).

CONCLUSIONChromosome abnormalities were the most common hereditary causes of the patients with azoospermia and cryptozoospermia. The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46,XY and 46,XY (Y>G). Therefore, detection of the AZF microdeletion in these patients is helpful to determine the etiology and avoid the unnecessary treatment and vertical transmission of the genetic defects.

Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Female ; Genetic Testing ; Humans ; Infertility, Male ; genetics ; Male ; Middle Aged ; Oligospermia ; genetics ; Seminal Plasma Proteins ; genetics

OBJECTIVE: To investigate the correlation between male infertility and Y chromosome microdeletions of azoospermia factor (AZF) regions, and to establish a reliable genetic diagnosis in idiopathic infertile male patients with azoospermia or severe oligozoospermia. METHODS: Multiplex PCR amplification of 6 sequence-tagged sites in AZF regions of the Y chromosome was examined among 100 normal karyotype male patients with azoospermia or oligozoospermia. RESULTS: Four patients (4%) had Y chromosome microdeletions, the microdeletions of 3 patients were idiopathic azoospermic and those of the other 1 patient were secretory azoospermia. CONCLUSION The PCR-based Y chromosome microdeletion screening is simple and effective in the diagnosis of patients with severe male infertility. Microdeletion of Y chromosome is one of the major causes of severe dyszooospermia.
Adult ; Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; diagnosis ; genetics ; Karyotyping ; Male ; Oligospermia ; genetics ; Seminal Plasma Proteins ; genetics

Microdeletions of the Y chromosome are a most common known genetic cause of spermatogenetic failure in infertile men. Recent studies have revealed the existence of genetic factors in the long arm of the Y chromosome Yq11.23, known as azoospermia factors (AZF), which are further divided into three separate regions including AZFa, AZFb and AZFc. The AZF deletions are due to different recombination between large palindromic sequences during mesophase. Microdeletions of different AZF regions cause different degrees of spermatogenic impairment. The present paper reviews the clinical significance and relevant laboratory techniques of detecting AZF of the Y chromosome.
Azoospermia ; diagnosis ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; Seminal Plasma Proteins ; genetics ; Sex Chromosome Aberrations

OBJECTIVETo investigate the relationship between the partial deletions in the azzospermia factor(AZFc) region of Y chromosome and male infertility.

METHODSMultiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis.For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved.

RESULTSThe gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P< 0.05). However, there was no difference for the gr/gr deletion between the patients and controls.

CONCLUSIONThe results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility.

Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Polymerase Chain Reaction ; Seminal Plasma Proteins ; genetics ; Sequence Deletion ; genetics

AIMTo evaluate for the first time the frequency of Y chromosome microdeletions and the occurrence of the partial deletions of AZFc region in Moroccan men, and to discuss the clinical significance of AZF deletions.

METHODSWe screened Y chromosome microdeletions and partial deletions of the AZFc region of a consecutive group of infertile men (n = 149) and controls (100 fertile men, 76 normospermic men). AZFa, AZFb, AZFc and partial deletions of the AZFc region were analyzed by polymerase chain reaction (PCR) according to established protocols.

RESULTSAmong the 127 infertile men screened for microdeletion, four subjects were found to have microdeletions: two AZFc deletions and two AZFb+AZFc deletions. All the deletions were found only in azoospermic subjects (4/48, 8.33%). The overall AZFc deletion frequency was low (4/127, 3.15%). AZF microdeletions were not observed in either oligoasthenoteratozoospermia (OATS) or the control. Partial deletions of AZFc (gr/gr) were observed in a total of 7 of the 149 infertile men (4.70%) and 7 partial AZFc deletions (gr/gr) were found in the control group (7/176, 3.98%). In addition, two b2/b3 deletions were identified in two azoospermic subjects (2/149, 1.34%) but not in the control group.

CONCLUSIONOur results suggest that the frequency of Y chromosome AZF microdeletions is elevated in individuals with severe spermatogenic failure and that gr/gr deletions are not associated with spermatogenic failure.

Chromosomes, Human, Y ; diagnostic imaging ; genetics ; Fertility ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; Male ; Morocco ; Reference Values ; Seminal Plasma Proteins ; genetics ; Sequence Deletion ; Spermatogenesis ; genetics ; Ultrasonography