男性不育患者外周血染色体核型和Y染色体微缺失分析

目的探讨男性不育患者的外周血染色体核型分析、Y染色体微缺失和血清生殖激素水平意义。方法对824例男性不育患者进行了外周血染色体核型分析、Y染色体微缺失和血清生殖激素水平检测。结果 824例男性不育患者中检出染色体畸变72例,占9.10%。其中,性染色体异常6例,占95.16%,染色体多态性60例,占83.33%,罗伯逊易位4例,占5.56%,相互易位2例,占2.78%。其中78例无精子症患者AZF微缺失检查,发现有16例存在微缺失。结论男性不育与染色体核型异常和Y染色体微缺失有密切关系。     

广西地区男性不育患者Y染色体微缺失结果分析及遗传效应

目的探讨广西地区男性不育患者Y染色体微缺失结果情况和临床遗传效应。方法采用染色体技术、PCR技术等对2180例男性不育患者进行外周血染色体分析及Y染色体微缺失6个系列标签位点检测。结果 2180例样本Y染色体AZF基因检测和Y染色体异常分别为总缺失率为6%（130/2180）和3.3%（71/2180）。同时发现Y染色体AZF基因缺失在生精障碍组与正常组、不孕产史组具有统计学意义;Y染色体核型以小Y和染色体多态性常见。结论男性不育患者与Y染色体微缺失及细胞核型所表现临床遗传效应密切相关,对于生殖异常的男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因,更好的为患者提供病因诊断、遗传咨询和治疗方案。     

河南地区不育症患者Y染色体微缺失和染色体异常的临床研究

目的探讨河南地区Y染色体AZF微缺失和染色体核型异常在无精子症、弱少精子症不育患者中的临床意义。方法采用PCR技术、染色体核型分析技术对2015年8月至2017年7月来本院诊治的906例男性不育患者,进行外周血染色体分析及Y染色体(AZF基因)微缺失检测。结果 906例样本Y染色体AZF微缺失检测和染色体异常异常率分别为10.5%(96/906)和6.3%(57/906)。AZF区缺失高频发生于AZFc+d(152)区,占总缺失的70.8%(68/96)。染色体核型分析检出性染色体异常31例、染色体结构(平衡易位)异常2例、染色体多态24例。结论染色体核型异常与Y染色体微缺失是男性无精子症、少精子症患者的重要病因,对于生殖异常的男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因,为男性不育临床诊断和治疗提供科学依据。     

安徽地区87例男性不育患者的遗传学病因分析

目的研究染色体异常、SRY基因突变及Y染色体AZF基因微缺失等遗传学病因与男性不育的关系。方法采用染色体G显带对87例男性不育患者进行核型分析,采用PCR技术对患者SRY基因突变及Y染色体AZF基因微缺失进行检测。结果87例男性不育患者中发现染色体异常25例（28．74％）;XX男性反转1例（1．15％）;AZF微缺失4例（4．60％）。总的遗传学异常检出率为34．48％。结论染色体异常及Y染色体AZF微缺失等是引起男性不育的重要遗传学病因。     

424例男性不育患者染色体及AZF分析结果

目的探讨男性不育症患者染色体异常及Y染色体AZF基因缺失类型的分布,为患者的生育提供遗传咨询。方法运用G显带技术,对患者外周血染色体核型进行分析;运用多重PCR-琼脂糖凝胶电泳技术对424例严重少精子症和无精子症男性不育患者的Y染色体AZF区域微缺失进行分析。结果 424例男性不育症患者中,单纯染色体核型异常为6.84%(29/424),单纯AZF基因微缺失为6.60%(28/424),染色体核型异常合并AZF基因微缺失为1.18%(5/424)。男性不育症患者总遗传缺陷发生率为14.62%(62/424)。结论染色体异常和AZF基因微缺失是引起无精子症和严重少精子症的重要原因,对男性不育症人群进行细胞遗传学核型分析和AZF基因缺失有助于指导该类患者进行健康生育。     

山西地区生精障碍患者染色体核型及Y染色体微缺失分析

目的探讨山西地区Y染色体AZF微缺失、染色体核型分析及性激素水平与男性生精障碍的关系。方法采用聚合酶链反应技术对935例男性不育患者(包括454例无精子症、452例严重少精子症及29例弱精子症患者)的外周血进行Y染色体微缺失检测,同时对其外周血进行染色体核型分析及性激素测定。结果在935例男性不育患者中共检出101例Y染色体微缺失,检出率为10.8%(101/935);染色体核型异常56例,检出率为5.99%(56/935)。其中AZFc区域缺失占总缺失的63.37%(64/101),是最为常见的Y染色体微缺失类型;47,XXY在染色体异常核型中占的比率最大2.46%(23/935)。染色体核型与Y染色体微缺失同时异常的有7例,占总样本的0.75%,而且发现Y染色体微缺失和染色体核型与激素水平都有相关性。结论染色体核型异常和Y染色体微缺失是导致男性不育的主要原因。对于准备行辅助生育的生精障碍患者,有必要将Y染色体微缺失和染色体核型分析作为常规检查,性激素水平可用于辅助检查,为男性不育的临床诊断和治疗提供重要依据。     

睾丸生精功能障碍患者Y染色体微缺失及染色体核型分析

目的对睾丸生精功能障碍患者进行外周血染色体及Y染色体微缺失检测,探讨生精功能障碍的遗传学机制,为遗传咨询和临床治疗提供参考。方法对400例生精功能障碍患者进行染色体核型分析和Y染色体AZF基因微缺失检测,并对其结果进行分析。结果 120例无精子症患者中,核型异常36例,异常发生率30%,同时发现AZF微缺失14例,异常发生率11.67%;280例少精子症患者,核型异常34例,异常发生率12.14%,同时发现AZF微缺失16例,异常发生率5.71%。结论染色体异常和AZF的缺失是引起男性无精子和少精子并造成男性不育的重要原因之一,对男性不育人群进行细胞遗传学核型分析和和AZF检测十分必要。     

无精子症、严重少精子症患者染色体核型与Y染色体AZF微缺失的相关性分析

目的对无精子症、严重少精子症患者染色体核型与Y染色体AZF微缺失的相关性进行分析,以探讨Y染色体AZF微缺失检测在男性不育中的应用价值。方法对无精子症、严重少精子症患者进行细胞遗传学分析,根据分析结果分为染色体核型正常组及异常组。采用PCR方法对各样本Y染色体AZF所在区域的6个序列标签位点（STS）进行扩增,琼脂糖凝胶电泳进行扩增产物的检测。结果在所分析的76例无精子症、严重少精子症患者中,染色体核型异常组27例,其中未检测到有Y染色体AZF缺失的存在;染色体核型正常组49例,其中1例无精症患者发现有Y染色体AZF缺失的存在。结论染色体核型异常与AZF微缺失无相关性。Y染色体AZF微缺失是造成男性不育的原因之一。Y染色体AZF微缺失检测在无精子症、严重少精子症患者中具有重要价值,可明确无精子症、严重少精子症的病因,从而避免不必要的治疗。     

柳州地区530例男性不育患者细胞遗传学与分子遗传学的分析

目的探讨Y染色体AZF基因缺失与男性不育症的关系,为临床辅助生殖技术提供理论支持。方法利用染色体核型分析、聚合酶链反应（polymerase chain reaction,PCR）和琼脂糖凝胶电泳（agarose gel electrophoresis,AGE）技术,对严重少弱精子症和无精子症男性不育患者进行无精子症因子（azoospermia factor,AZF）基因的15个位点分析。结果 530例不育症患者中有119例存在核型异常;34例存在AZF基因缺失,缺失率为6.4%。结论染色体数目结构异常与无精子症和严重少精子症的发生密切相关,Y染色体AZF基因缺失是导致男性不育的重要原因,辅助生殖治疗前有必要进行AZF基因缺失的检测。     

272例非梗阻性无精子症不育患者的细胞和分子遗传学分析

目的本研究主要通过分析非梗阻性无精子症患者染色体核型分析结果和Y染色体微缺失特征探讨遗传学检查在非梗阻性无精子症男性不育中的辅助诊断及治疗方法的选择指导作用。方法选择272例非梗阻性无精子症患者,采集外周静脉血进行染色体核型分析及Y染色体微缺失检测,评估非梗阻性无精子症患者染色体核型异常以及Y染色体微缺失的检出率及特征。结果 272例非梗阻性无精子症患者染色体核型分析正常者占69.85%,异常者占30.15%,其中,常染色体异常者占5.52%,性染色体异常者24.63%;Y染色体微缺失占7.35%,在染色体核型正常患者中Y染色体微缺失占10.53%。结论开展外周血染色体核型分析和AZF检测,可评价男性不育遗传缺陷,从而更好的解释非梗阻性无精子症发病原因,提供遗传咨询和指导临床诊疗。     

165例男性不育染色体核型及AZF基因缺失分析

目的探讨男性不育患者染色体核型异常及无精症因子（AZF）基因缺失与男性不育的关系。方法对2012年5月-2014年5月来本院就诊的（重庆地区）原发性男性不育患者165例,进行外周血G显带核型分析并采用多重PCR对无精症因子区域的15个标签序列位点进行检测。结果165例生精障碍患者中染色体异常共检出5例,1例为男性性反转（46,XX）,1例为克氏综合征（47,XXY）,1例为47,XY,＋mar,1例为46,XY,Y≥18,1例46,XY,in（9）,其余均为正常核型,总异常率为3.03％（5／165）;AZF基因位点发生微缺失患者共检出25例,总缺失率为15.15S。结论染色体异常和AZF微缺失是男性不育的重要原因,对男性不育诊断时有必要进行检查。     

Detection of Y chromosome microdeletions in AZF region by liquid chip technology]

OBJECTIVE: To establish a liquid chip technology to detect Y chromosome microdeletions in Chinese infertile males with azoospermia or oligozoospermia. METHODS: Multiplex PCR and liquid chip technology were used to detect the Y chromosome microdeletions in AZF region in 178 infertile patients with azoospermia and 134 infertile patients with oligozoospermia as well as 40 fertile control men. RESULTS: Forty out of 312 patients (12.8%) were found to have deletions in AZF region. The microdeletion frequency was 14%(25/178) in the azoospermic group, 9.6%(11/114) in the oligospermic and 20%(4/20) in the severe oligospermic group. CONCLUSION: The authors developed a high-throughput, fast and simple assay to screen the AZF region microdeletions of Y chromosome.     

Analysis for microdeletions of Y chromosome in a single spermatozoon from a man with severe oligozoospermia

Since the association between Y chromosome deletions and spermatogenic failure was demonstrated in 1976, there have been many reports of Y chromosome microdeletions. Peripheral blood lymphocytes (PBLs) have been used for the analysis because the method is convenient, materials are easy to obtain, and PBL genomic DNA is similar to that of germ cells such as spermatozoa. However, PBLs originate from somatic tissue, not from germ cells. In this study, we analyzed 30 spermatozoa in semen ejaculated by an infertile male with Y chromosome microdeletions, while 50 spermatozoa from a normal fertile male were used as a control. The same Y chromosome microdeletion as that found in PBL was identified in each of the 12 spermatozoa which contained the Y chromosome in the infertile patient. These results indicated that spermatozoa (germ cells) had the same Y chromosome microdeletion as PBL (somatic cells). This supports the conjecture that microdeletions are transmitted to the next generation via the treatment of infertility by intracytoplasmic sperm injection. Received: October 17, 2000 / Accepted: November 15, 2000     

Y chromosome microdeletions: are they implicated in teratozoospermia?

BACKGROUND: Y chromosome microdeletions are known to impair spermatogenesis. Screenings for these microdeletions are performed mostly in patients with sperm count abnormalities. METHODS: We have screened the Y chromosome of 80 infertile patients with sperm morphological abnormalities. DNA from sperm, peripheral blood or single sperm following multiple displacement amplification (MDA) was utilized to amplify 20 specific sequence-tagged sites (STS) by PCR. RESULTS: Y chromosome microdeletions were detected in sperm DNA from four of the teratozoospermic patients; while none of the 53 men with normal sperm morphology had any deletions. Two of the four patients with deletions also provided peripheral blood and a fresh semen sample. Both patients had none of the STS deleted in the peripheral blood DNA. Y chromosome microdeletion analysis in the MDA amplified SRY-positive single sperm DNA confirmed the presence of the same deletion in all 10 sperm for one patient and eight out of 10 sperm in the second patient. CONCLUSIONS: Our observations suggest that some of the teratozoospermia might be related to gonadal mosaic Y chromosome microdeletions. Gonadal mosaicism can be a source of de novo transmissions of Y chromosome microdeletions. The application of MDA can yield enough DNA from a single sperm for genetic analyses.     

男性不育患者Y染色体AZF基因微缺失检测

目的探讨原发性无精子症、严重少精子症及少精子症患者与Y染色体无精子因子（azoospermia factor,AZF）区微缺失的关系。方法采用多重PCR方法对对照组192例已正常生育男性和实验组448例男性不育患者进行AZF区域内的15个序列标签位点（STS）的检测。结果对照组未发现AZF基因微缺失,实验组448例患者检测出五种AZF微缺失类型共41例,总缺失率为9.2%（41/448）,其中无精子症、严重少精子症和少精子症患者的缺失率分别为12.0%（19/158）、10.8%（17/157）、3.8%（5/133）,无精子症和严重少精子症患者Y染色体AZF微缺失率明显高于少精子症组,差别有统计学意义（P〈0.05）。使用15个STS位点进行检测其检出率较利用欧洲男科学会（European Academy of Andrology,EAA）推荐的6个STS位点提高约14%（5/36）。结论AZF微缺失是引起原发性无精子症、严重少精子症和少精子症的重要原因之一;增加STS位点检测数有利于提高AZF微缺失的检出率。     

原发不育男性患者细胞遗传学分析

目的研究男性生育功能障碍与染色体异常的关系。方法常规外周血淋巴细胞培养、制片、核型分析。结果1009例男性不育患者中染色体异常者有61例,异常率为6.05%,染色体多态性者43(4.26%)例。结论染色体异常是导致男性不育的重要原因之一,有必要对男性不育患者进行遗传学检查及遗传咨询。     

Y chromosome microdeletions and germinal mosaicism in infertile males

Molecular deletions of the Y chromosome long arm are a frequent cause of male infertility. Because these deletions are thought to be inherited from fathers without Y chromosome deletions, the question arises as to whether their relatively high incidence in the male population could be due to the existence of a mosaicism in somatic and/or germinal paternal cells. This study included a total of 181 infertile men, among whom 18 were found to have an abnormal karyotype. In the other 163, polymerase chain reaction (PCR) analysis detected nine (5.5%) Y chromosome microdeletions. Blood, spermatozoa or testicular cells from 47 men (27 oligozoospermia, 20 azoospermia), including six Y-deleted patients, were screened for mosaicism using double target fluorescence in-situ hybridization (FISH) with Y centromeric and deleted in azoospermia (DAZ) gene-specific probes. Results indicated that: (i) percentages of double (intact Y chromosome) or single (deleted Y chromosome) fluorescent signals by FISH were in agreement with PCR data, thus demonstrating the reliability of the method; and (ii) a weak germ cell mosaicism was found in only two oligozoospermic patients, carrying 1.97 and 4.13% respectively of spermatozoa with a deleted Y chromosome. Further studies on larger populations are needed to evaluate precisely the incidence of Y deletion mosaicisms in infertile men.     

Genotyping of Israeli infertile men with idiopathic oligozoospermia

Microdeletions of the long arm of the Y chromosome involving the azoospermia factor (AZF) region are associated with severe oligo- or azoospermia. Abnormal androgen receptor (AR) structure or function has also been implicated in male infertility. To assess the contribution of these genetic defects to male infertility, 61 Israeli men with severe oligo- (n = 15) or azoospermia (n = 46), were screened for Y chromosome microdeletions, and the AR-(CAG)n repeat length. Fifty fertile Israeli men were similarly analyzed. PCR amplification of 20-54 simple tag sequences (STSs) located at Yq was used to determine the rate and extent of Y chromosome microdeletions. PCR with primers flanking the AR-(CAG)n region and subsequent size fractionation on gradient acrylamide gels were used to determine AR-(CAG)n length. Five azoospermic individuals (5/61-8.2% and 5/46-10.8% of azoospermic patients) displayed Y chromosome microdeletions. The mean CAG repeat number in infertile men was 18.6 +/- 3.0 compared with 16.6 + 2.7 in fertile men (n = 50), a statistically significant difference (p = 0.003). Y chromosome microdeletions contribute to male infertility in our azoospermic population, and the mean length of the AR-CAG is significantly longer in our infertile population than in fertile men.