Generation and validation of unique male sex-specific sequence tagged sites (STS) marker from diverse genotypes of dioecious Jojoba-Simmondsia chinensis (Link) Schneider

Objective The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFa+b + c, AZFb+c, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

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A panel of human chromosome 22-specific sequence tagged sites

Genomics ◽

10.1016/s0888-7543(05)80137-5 ◽

1992 ◽

Vol 14 (4) ◽

pp. 1098-1103 ◽

Cited By ~ 5

Author(s):

John E. Collins ◽

Lorraine A. Everett ◽

David R. Bentley ◽

Ian Dunham

Keyword(s):

Human Chromosome ◽

Chromosome 22 ◽

Specific Sequence ◽

Sequence Tagged Sites

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Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men

Hormone Molecular Biology and Clinical Investigation ◽

10.1515/hmbci-2021-0003 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Ozlem Oz

Keyword(s):

Y Chromosome ◽

Banding Technique ◽

Chromosomal Anomalies ◽

Specific Sequence ◽

Sequence Tagged Sites ◽

Infertile Men ◽

Y Chromosome Microdeletions ◽

Male Patients ◽

Patient Selection Criteria ◽

Methodological Aspects

Abstract Objectives Chromosome anomalies and Y chromosome microdeletions are one of the reasons that can be seen in infertile patients and affect fertility. In this study, it was aimed to determine the frequencies of chromosomal anomalies and Y chromosome microdeletions in primary infertile male patients. Methods We included 374 patients with primary infertility in this study. Cytogenetic analysis was performed with the GTG banding technique by using trypsin and Giemsa stain. Y microdeletion analysis was studied by multiplex polymerase chain reaction using 28 Y chromosome-specific sequence-tagged sites. Results Chromosomal irregularities were detected in 27 (7.22%) of infertile cases. It was observed that 7 (25.92%) of chromosomal irregularities detected in cases were in autosomal and 20 (%74.08) were in gonosomal chromosomes. The incidence of Y chromosome microdeletion was 1.07% (4/374) and the microdeletions were observed in AZFb, AZFc and AZFd regions. AZFc + AZFd deletion was detected in three patients (0.81%) and AZFb + AZFc + AZFd deletion in one patient (0.26%). Conclusions In conclusion, gonosomal chromosome irregularity was higher than autosomal chromosome irregularity in infertile men. The frequency of Y microdeletion has different rates according to some factors such as ethnic differences of patients, patient selection criteria, differences in the number of cases, and methodological aspects.

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Identification of chromosome-specific sequence-tagged sites by Alu-PCR

Genetic Analysis Biomolecular Engineering ◽

10.1016/1050-3862(93)90018-e ◽

1993 ◽

Vol 10 (1) ◽

pp. 6-9 ◽

Cited By ~ 2

Author(s):

Veronika Klein ◽

Klaus Piontek ◽

Nicole Brass ◽

Frank Subke ◽

Klaus D. Zang ◽

...

Keyword(s):

Specific Sequence ◽

Sequence Tagged Sites

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Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients

Cytogenetic and Genome Research ◽

10.1159/000487039 ◽

2017 ◽

Vol 153 (4) ◽

pp. 190-197 ◽

Cited By ~ 2

Author(s):

Shin Y. Kim ◽

Bom Y. Lee ◽

Ah R. Oh ◽

So Y. Park ◽

Hyo S. Lee ◽

...

Keyword(s):

Y Chromosome ◽

Klinefelter Syndrome ◽

Nonobstructive Azoospermia ◽

Specific Sequence ◽

Azoospermia Factor ◽

Sequence Tagged Sites ◽

Infertile Men ◽

Y Chromosome Microdeletions ◽

Genetic Abnormalities ◽

Azf Region

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.

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