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y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility

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Asian Journal of Andrology 2020年第4期22卷 368-371页

作者： Masashi Iijima Kazuyoshi Shigehara Hideki Igarashi Koichi Kyono yasuo Suzuki yuji Tsuji yoshitomo Kobori Hideyuki Kobayashi Atsushi Mizokami Department of Integrative Cancer Therapy and Urology Kanazawa University Graduate School of Medical ScienceKanazawa 920-8641Japan Kyono ART Clinic Sendai 980-0014Japan Kyono ART Clinic TakanawaTokyo 108-0074Japan Suzuki Lady's Hospital Kanazawa 921-8033Japan Ebisu Tsuji Clinic Tokyo 150-0021Japan Tenjin Tsuji Clinic Fukuoka 810-0001Japan Dokkyo Medical University Koshigaya Hospital Saitama 343-8555Japan Department of Urology Faculty of MedicineToho UniversityTokyo 143-8541Japan

The azoospermia factor(AZF)region is important for spermatogenesis,and deletions within these regions are a common cause of oligozoospermia and azoospermia.Although several studies have reported this cause,the present research,to the best of our knowledge,is the first large-scale study assessing this factor in Japan.In this study,1030 male patients with infertility who were examined for y chromosome microdeletion using the polymerase chain reaction-reverse sequence-specific oligonucleotide(PCR-rSSO)method,a newly developed method for y chromosome microdeletion screening,were included.The study enrolled 250 patients with severe oligospermia and 717 patients with azoospermia.Among the 1030 patients,4,4,10,and 52 had AZFa,AZFb,AZFb+c,and AZFc deletions,respectively.The sperm recovery rate(SRR)of microdissection testicular sperm extraction in patients with AZFc deletions was significantly higher than that in those without AZF deletions(60.0%vs 28.7%,P=0.04).In patients with gr/gr deletion,SRR was 18.7%,which was lower than that in those without gr/gr deletion,but was not statistically significant.In conclusion,our study showed that the frequency of y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries,and SRR was higher in patients with AZFc deletion.

关键词： azoospermia factor Japanese infertile men sperm recovery rate y chromosome microdeletion

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The prevalence of azoospermia factor microdeletion on the y chromosome of Chinese infertile men detected by multi-analyte suspension array technology

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Asian Journal of Andrology 2008年第6期10卷 873-881页

作者： yi-Jian Zhu Si-yao Liu Huan Wang Ping Wei Xian-Ping Ding Institute of Medical Genetics Key Laboratory of Bio-resources and Eco-environment Ministry of Education College of Life Science Sichuan University Chengdu 610064 China

Aim： To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor （AZF） region microdeletions on the y chromosome and establish the prevalence of y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. Methods： In total, 178 infertile patients with azoospermia （nonobstructed）, 134 infertile patients with oligozoospermia as well as 40 fertile man controls were included in the present study. The samples were screened for AZF microdeletion using optimized multi-analyte suspension array （MASA） technology. Results： Of the 312 patients, 36 （11.5%） were found to have deletions in the AZF region. The rnicrodeletion frequency was 14% （25/178） in the azoospermia group and 8.2% （11/134） in the oligospermia group. Among 36 patients with microdeletions, 19 had deletions in the AZFc region, seven had deletions in AZFa and six had deletions in AZFb. In addition, four patients had both AZFb and AZFc deletions. No deletion in the AZF region was found in the 40 fertile controls. Conclusion： There is a high prevalence of y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. The MASA technology, which has been established in the present study, provides a sensitive and high-throughput method for detecting the deletion of the y chromosome. And the results suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

关键词： y chromosome microdeletion azoospermia factor male infertility multi-analyte suspension array （MASA）

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y chromosome microdeletion and Gene Deletion Screening in Infertile Men with Idiopathic Azoospermia and Oliogspermia

Y Chromosome Microdeletion and Gene Deletion Screening in In...

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第十三届全国泌尿外科学术会议暨第八届全球华人泌尿外科学...

作者： Wen-hao Tang1 Lu-lin Ma1 Hui Jiang1 Zuo-xiang Li2 Xu Ma2 1 Urology department of Peking Union 3rd Hospital Beijing 100083 2 the National Institute for Family Planning Beijing 100081

＜正＞Objective: Screening the y chromosome microdeletion in infertile men with idiopathic azoospermia and oliogspermia. Methods: We selected 6 STS loci in AZFa, b and c regions, screened 56 oligospermic and 33 azoosp... 详细信息

关键词： male infertility y chromosome microdeletion DAZ RBMy

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Analysis of y chromosome microdeletion in 1738 Infertile Males from Northeast of China

Analysis of Y chromosome Microdeletion in 1738 Infertile Mal...

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第十二次全国医学遗传学学术会议

作者： yong-Sheng Zhang Ru-Lin Dai Rui-Xue Wang Hong-Guo Zhang Shuang Chen Rui-Zhi Liu Center for Reproductive Medicine Center for Prenatal DiagnosisFirst HospitalJilin University

Objective:To determine the frequencies and the characteristics of y chromosome microdeletion in infertile males from northeastern china in order to perform appropriate therapeutic choices.Methods:A total of 1738 infertile males were involved.Sperm concentration was measured according to standard methods,and karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding.Multiplex polymerase chain reaction (PCR) amplification using nine specific sequencetagged sites(STS) were selected to detect y chromosome microdeletions.Results:The data showed that the frequency of y chromosome microdeletion was 8.52%.The commonest microdeletion was detected in the AZFc region, followed by AZFb+c,AZFb,AZFa+b+c,AZFa and AZFa+c.107 cases with y chromosome microdeletion suffered from azoospermia,39 from severe oligozoospermia and 3 from moderate oligozoospermia.Karyotype analysis was available for 130 cases with y chromosome microdeletion and abnormal karyotypes were found in 19 cases(14.6%).The most frequent abnormal karyotype was 46,X,yqh-.Conclusion:In northeastern china,y chromosome microdeletion diagnosis should be performed before employment of intracytoplasmic sperm injection,especially in infertile males with azoospermia or karyotype of 46,X,yqh-.

关键词： Infertility Azoospermia Oligozoospermia y chromosome microdeletion Intracytoplasmic sperm injection.

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Quick recovery and characterization of cell-free DNA in seminal plasma of normozoospermia and azoospermia： implications for non-invasive genetic utilities

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Asian Journal of Andrology 2009年第6期11卷 703-709页

作者： Hong-Gang Li Shi-yun Huang Hui Zhou Ai-Hua Liao Cheng-Liang Xiong Family Planning Research Institute and Centre for Reproductive Medicine Tongji Medical College Huazhong Universityof Science and Technology Wuhan 430030 China

We established a quick and reliable method for recovering cell-free seminal DNA （cfsDNA）, by using the binding-washing-elution procedure on the DNA purification column. Low variations （below 15%） among the triplicate values of cfsDNA quantity verified the reproducibility of our cfsDNA recovery method. Similar cfsDNA yield and size distribution between seminal plasma acquired by filtration and centrifugation confirmed the presence of cfsDNA. To investigate the general characterization of cfsDNA, the quantitation and size distribution of cfsDNA from normozoospermic and azoospermic semen were analyzed by real-time PCR and electrophoresis, respectively. CfsDNA concentration in semen with normozoospermia （n = 11） was 1.34 ± 0.65 μg ·mL^-1, whereas a higher cfsDNA concentration was observed in azoospermia （2.56 ± 1.43 μg ·mL^-1, n = 9）. The continuous distribution of DNA fragments ranging from -1 kb to 15 kb and a spectrum of multiples of 180-bp fragments were observed in each normozoospermic and azoospermic sample. Distinct characteristic DNA ladder fragmentations in some azoospermic samples implicated that cfsDNA originate partly from apoptotic cells. CfsDNAs of 36 selected azoospermic patients with known information of y chromosome microdeletion were subjected to the same microdeletion analysis by multiplex PCR and PCR amplification of sy114 （1 450 bp）. All multiplex PCR reactions with cfsDNA amplified successfully and provided the same result as leukocyte DNA. PCR amplification of sy114 gave a 1 450-bp amplicon as expected. Our data suggested the potential use of cfsDNA in search of biomarker or diagnostic procedures.

关键词： azoospermia cell-free DNA normozoospermia seminal plasma y chromosome microdeletion

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yq AZF microdeletions in male infertility:An update on the phenotypic spectrum,epidemiology and diagnostics

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Asian pacific Journal of Reproduction 2021年第5期10卷 203-214页

作者： Awanish Jaiswal Anurag Pandey Mamta Tiwari Akhtar Ali Rohit Sharma Department of Vikriti Vigyan Faculty of AyurvedaInstitute of Medical SciencesBanaras Hindu UniversityVaranasiU.P.India Department of Swasthavritta and yoga Faculty of AyurvedaInstitute of Medical SciencesBanaras Hindu UniversityVaranasiU.P.India Centre for Genetic Disorders Institute of ScienceBanaras Hindu UniversityVaranasi U.P.India Department of Rasa Shastra and Bhaishajya Kalpana Faculty of AyurvedaInstitute of Medical SciencesBanaras Hindu UniversityVaranasiU.P.India

According to the latest data,globally 15%of couples have infertility and male infertility contributes to 10%of all cases.Infertility can be caused by certain biological changes in the gonads and the reproductive system like azoospermia,oligospermia,asthenospermia,teratozoospermia and hypospermatogenesis.Genetic causes of azoospermia include chromosomal abnormalities,y chromosome microdeletions and deletion or other mutations of y-linked genes.The maximum number of the genes are located in the azoospermia factor region of the long arm(yq)of the y chromosome.y chromosome microdeletion is known as the second major genetic cause of spermatogenetic failure.This article aims to review the latest updates on the involvement of yq microdeletions in male infertility.The diagnostics,prevalence and phenotypic spectrum related to yq gene microdeletions are discussed.

关键词： Azoospermia factor AZF Male infertility y chromosome microdeletion yq

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Molecular and Clinical Characterization of y chromosome microdeletions in Infertile Men:A 6-year retrospective analysis

Molecular and Clinical Characterization of Y Chromosome Micr...

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中国的遗传学研究——遗传学进步推动中国西部经济与社会发...

作者：丁显平 Key Laboratory of Bio-resources and Eco-environment M nistry of EducationInstitute of Medical GeneticsCollege of Life ScienceSichuan University

Objective:The study investigated the prevalence and types of AZF microdeletions in infertile men during the past six years in Sichuan,indication for genotype-phenotype correlation. Methods:Multiplex pol -ymerase chain reaction was used to detect sequence tagged sites(STS) of AZF microdeletions among 1011 infertile men,of which 713 patients were affected by nonobstructive azoospermia and 298 were affected by severe oligozoospermia.Results:The prevalence of microdeletions was 10.48%of the patients(106 /1011),11.08%in men with nonobstructive azoospermia(79 /713),and 9.06%in men with severe oligozoospermia(27/298). Complete AZFa and AZFb deletions were associated with azoospermia,whereas AZFc deletions were associated with variable spermatogenic phenotypes.A mild decline in sperm concentration was found in two males with partial AZFb deletion and one male with partial AZFb-c deletion. The most frequent deletion was theAZFc(60.38%,64/106),and 37.50%of the cases(24/64) had sperm in the ejaculate.Conclusion:This extensive clinical researches on y chromosome microdeletions may give us a deeper insight into the genotype-phenotype relationship,and confirm that the identification of yq microdeletions has significant diagnostic and prognostic value.

关键词： y chromosome microdeletion Azoospermia factor Infertility male

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