特发性无精子症及少弱精子症患者Y染色体AZF微缺失筛查分析

目的探讨特发性无精子症及少弱精子症不育男性与Y染色体AZF微缺失的关系.方法用双重PCR技术对63例患者(无精于症41例,少弱精子症14例,严重少精子症8例)进行Y染色体AZFa、AZFb、AZFc、SRY的微缺失筛查.同时对26例无精于症患者行睾丸活检、组织学评估.结果63例中AZF微缺失7例,缺失率为11.1%.其中无精子症5例,严重少精子症2例.AZFc缺失4例,AZFb缺失2例,AZFb AZFc缺失1例,未发现AZFa区缺失.63例及对照组30例SRY基因扩增均阳性.26例无精子症患者行睾丸活检、组织学检查,无1例精子发生正常.结论Y染色体微缺失,特别是AZFc区DAZ基因的微缺失,是引起无精子和严重少弱精子等生精障碍而致男性不育较为重要的遗传学因素.     

甘肃部分地区373例男性不育患者Y染色体AZF微缺失基因诊断的研究

目的研究甘肃地区男性不育患者Y染色体AZF区域微缺失的频率、分布情况方法采用多重PCR技术,对甘肃地区373例男性不育症患者进行Y染色体AZFa,AZFb,AZFc三个区域6个STS位点的微缺失检测。结果 373例男性不育患者中,42例发生了STS位点缺失,缺失率11.3%。其中无精子症因子AZFa(SY86,SY84)区未见缺失;AZFb(SY127,SY134)区缺失4例(9.52%);AZFc(SY254,SY255)区缺失32例(76.2%);AZFb+c区缺失5例(11.9%);AZFa+b+c缺失1例(2.38%)。结论甘肃部分地区AZF区域微缺失的频率、分布与国内其他报道一致,但是在本研究中未检测到AZFa区缺失患者。     

无精子症及极少精子症的Y染色体AZF区域微缺失临床分布特征的研究

目的研究男性无精子症、极少精子症患者的AZF区域微缺失的临床分布特征。方法应用细胞遗传学和多重聚合酶链反应技术,对100例特发性无精子症及极少精子症患者的AZF区域微缺失进行筛查。结果100例患者中,发生AZF区域微缺失的患者13例（13%）。其中无精子症组68例,AZF微缺失6例（7.35%）;严重少精子症组32例,AZF微缺失7例（2.19%）。AZF微缺区c区和d区发生缺失率显著高于a区和b区。结论AZF微缺失和染色体异常是引起男性不孕的主要原因之一。     

Y染色体小于22号染色体患者AZF微缺失分析

目的观察Y染色体≤22号染色体患者Y染色体微缺失的发生情况。方法本实验对象为47例Y染色体≤22号染色体患者,其中A组精子密度10×106/ml共12例,B组精子密度≥10×106/ml共35例,采用多重聚合酶链反应技术对其进行Y染色体微缺失15个序列标签位点进行检测。结果47例患者中共有4例发现微缺失,缺失率为8.51%;4例均为A组中发现,A组AZF总缺失率为33.33%,AZFa区缺失率为0%,AZFb区缺失率为25%,AZFc区及d区的缺失率均为33.33%,其中3例在无精子症中,缺失率为60%,1例在严重少精子症中,缺失率为14.29%;B组未发现微缺失,缺失率为0%。结论对于Y染色体≤22号染色体的男性,精子密度≥10×106/ml者AZF微缺失发生率很低;而无精子或严重少精子者,则有发生AZF微缺失的风险,尤其无精子症患者发生AZF多区域的联合缺失的风险显著增加。     

Y染色体AZF区域微缺失的细胞遗传学和分子遗传学研究

目的　研究无精症患者 Y染色体的形态学改变及相应的无精子因子 ( azoospermia factor,AZF)区域的微缺失位点 ,为无精症患者进行明确的遗传学诊断。方法　采用外周血染色体 G显带、C显带技术和多重聚合酶链反应技术 ,对 2例无精症患者进行了细胞遗传学和分子遗传学检测。结果　 2例无精症患者 Y染色体都发生了明显形态学改变 ,核型分别为 4 5 ,X,- Y,- 2 2 , der( Y) t( Y;2 2 ) ( q11.2 ;q11.2 ) ;4 6 ,XY,del( Y) ( q11.2 )。在所选择的 AZFa、AZFb、AZFd、AZFc区域的 12个序列标签位点中 ,1例发生 10个位点缺失 ,另一例发生 11个位点缺失。结论　通过细胞遗传学检查及 Y染色体上 AZF区域微缺失的检测 ,对男性不育患者提供更加明确的遗传学诊断     

2336例不育男性患者AZF微缺失及其临床分析

目的探讨不育男性患者Y染色体上无精因子基因(AZF)微缺失情况及其临床表现。方法对2005年10月~2014年7月在广西妇幼保健院就诊2 336不育男性患者采用多重聚合酶链反应结合琼脂糖凝胶电泳检测AZF15个序列标签位点。结果 2 336例患者中检测出AZF微缺失138例(5.91%),以c区微缺失率最高为4.92%,检出11种微缺失类型。其中单独AZFc区微缺失表现为少或弱精子症、严重少精子症和或无精子症,单独a区或b区微缺失表现为无精子症或严重少精子症,多个区联合微缺失均表现为无精子症。结论本地区男性不育患者AZF微缺失具有多样性,以c区微缺失为主,单独c区微缺失临床表现异质性较大,a区和b区微缺失临床表现较重,多个区联合微缺失时临床表现最严重。     

无精症、严重少精症患者Y染色体无精子因子微缺失的遗传学研究

目的研究男性无精症和严重少精症患者的发病原因。方法应用细胞遗传学和多重聚合酶链反应技术，对148例无精症、严重少精症患者进行检测。结果在148例患者中发现11例Y染色体无精子因子(azoospermia factor，AZF)微缺失(7．4％)，在检测的AZFa、AZFb、AZFd、AZFc4个区域共15个序列标签位点中，缺失13个位点、11个位点、2个位点和1个位点的各有1例，缺失12个位点的有2例，缺失5个位点的有5例。发现7例患者的染色体发生了明显的形态学改变(4．7％)，其中1例Y染色体长臂缺失伴易位，4例Y染色体的长臂单纯缺失，1例Y染色体长臂1区2带(Yq12)增加，1例常染色体之间发生了相互易位。结论AZF微缺失和染色体异常是引起男性不育的主要原因之一。     

无精与严重少精症Y染色体AZF区域微缺失与生殖激素的关系

目的 探讨Y染色体AZF区域微缺失与生殖激素的关系.方法 应用多重PCR扩增对100例无精与严重少精症患者的4个区域15个位点进行AZF基因检测,并采用贝克曼全自动化学发光仪进行生殖激素的测定.采用Epidata建立数据库,应用SAS软件进行均数和方差分析F检验的统计分析.结果 100例患者中发生AZF微缺失的患者13...     

合川地区精子发生障碍患者Y染色体微缺失基因诊断的研究

目的探讨Y染色体微缺失与原发性无精子症的关系。方法采用多重PCR技术,对63例原发性无精子症患者和20例正常已生育男性对照进行Y染色体微缺失的检测。结果63例原发性无精子症患者中9例发生了Y染色体微缺失,缺失率为14·3%,其中AZFa区sY86缺失2例(3·17%);AZFb区sY134缺失1例(1·59%);AZFc区sY255缺失4例(6·34%);sY86和sY134同时缺失1例(1·59%)。20例已生育男性均未检测到Y染色体微缺失。结论男性原发性无精子症与Y染色体微缺失密切相关。     

无精和严重少精子症患者Y染色体的微缺失

目的 检测我国无精和严重少精子症患者Y染色体微缺失的发生情况和位点,及其与睾丸病理学类型的关系.方法 取584例无精子症和80例严重少精子症患者精液中细胞或外周血白细胞,裂解提取DNA,用4组多重聚合酶链反应检测分布于AZFa、AZFb、AZFc区,包括欧洲男科学会和欧洲分子遗传学质量控制体系推荐的6个位点在内的共15个序列标签位点(sequence tagged site,SIS)的缺失.对部分有Y染色体微缺失患者进行睾丸细针抽吸活检,检查睾丸病理学类型.结果 584例无精子症患者中,共有66例(11.3%)发生Y染色体微缺失,各区发生率构成比由高到低依次为:AZFc区48例(72.7%),AZFb+c区9例(13.6%),AZFa+b+c区4例(6.1%),AZFb区3例(4.5%),A2Fa区2例(3.0%).80例严重少精子症患者共有10例发生Y染色体微缺失(12.5%),均为AZFc区缺失.AZFc区缺失患者(19例)睾丸病理学类型多样化;AZFb+c区或AZFa+b+c区缺失患者(7例)睾丸病理学类型为唯支持细胞综合征或生精阻滞于精原细胞.结论 Y染色体微缺失在我国的发生情况与其他国家大多数报道基本一致,跨区大缺失对精子发生造成严重影响.     

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

A significant proportion of male infertility is accompanied by an abnormal semen analysis, azoospermia or severe oligozoospermia, which is generally assumed to be the result of spermatogenic failure. The genetic contribution in the process of spermatogenesis, particularly the role of the Y chromosome in determination of semen quality, is still obscure. In order to explore the relationship between Y chromosome haplogroup and spermatogenic failure, we collected 285 idiopathic infertile males with azoo-/oligozoospermia and 515 fertile men, adopted 12 binary markers and recruited the subjects (cases and controls) in the same region to test whether there is a possible susceptibility of certain Y haplogroups to spermatogenic failure in the Han Chinese population. The results indicated that the prevalences of hg K* in the control and the case population were 0.78% (4/515) and 2.80% (8/285), respectively. The difference between the frequencies of the hg K* in the infertile males and the normal control population was significant [odds ratio (OR) = 3.69; 95% confidence interval (CI) = 1.10–12.36] (P = 0.028). However, in the other haplogroups no significant differences were found. In conclusion, Y haplogroup-K* might bear a risk factor of male infertility, and the individuals in the haplogroup need to be further examined. Chuncheng Lu and Feng Zhang contributed equally to this work.     

不育患者Y染色体AZF微缺失的分析

目的探讨Y染色体上AZF区域微缺失与男性不育的关系。方法采用多重PCR技术,对20例不育患者AZF4个区的l5个序列标签位点（STS）进行了微缺失检测和细胞遗传学检查。结果20例患者中共有3例发现微缺失（15%）。结论AZF微缺失是导致男性不育的重要原因之一,细胞遗传学检查与AZF微缺失无相关性。     

人Y染色体类热休克蛋白因子编码特征和男性生精障碍

精子生成障碍是男性不育的主要原因之一，而无精症和少精症在男性不育症患者中，90％是由于生精功能障碍引起，其中特发性生精障碍占60％。近年来通过人类基因组计划的实施，发现不少Y染色体上诱发不育症的候选基因，包括类热休克蛋白因子HSFY、LW-1和mHSFYL。本文通过HSFY、LW-1和mHSFYL的编码特征，阐述它们在精子生成过程中的作用和诱发生精障碍、导致无精症和少精症的遗传学机理。     

人类Y染色体微缺失与精子生成障碍的研究进展

本文就人类Y染色体的结构及其与精子生成相关的主要功能基因的研究进展作了综述,重点对AZF区的USP9Y.RBM. DAZ. CDY等基因的缺失与精子生成障碍的关系进行了探讨。为临床实施辅助生育技术治疗前对精子质量的筛查.无精症患者的诊断及遗传咨询提供理论依据。     

不育男性的AZF检测与Y染色体缺失的对照分析

目的探讨精子发生障碍的男性不育患者AZF缺失与Y染色体缺失的临床意义。方法对616例非阻塞性无精子症或少精子症患者进行AZF的检测,同时观察G显带Y染色体的形态。结果从616例患者中检测出48例患者分别为AZFa、AZFb、AZFc或AZFb+AZFc的微缺失,但显微镜下观察不到Y染色体形态改变。另外4例患者经AZF检测,2例为AZFc+sY160缺失,1例为AZFb+AZFc+sY160缺失,1例为AZFa+AZFb+AZFc+sY160缺失,显微镜下发现Yq部分或完全缺失。25例已育男性的G-显带的Y染色体和AZF也进行对照检测,均未发现AZF的缺失,但其中1例核型分析显示Y染色体长臂部分缺失,但PCR检测仅缺失sY160,即Yq12的缺失。结论Yq11.23上7Mb的缺失在细胞水平不能分辨。q11.23+q12的缺失或仅有Yq12的缺失的Y染色体显微镜下不能区分,但后者不是精子发生障碍的病因。对男性不育精子发生障碍患者,要结合细胞遗传学和AZF分子检测综合判断。     

Y染色体AZF区遗传学研究进展

Y染色体无精子症因子（azoospermia factor,AZF）区域微缺失与男性不育密切相关,是最常见的导致无精子症与严重少精子症的分子遗传病因。AZF区域包括三个遗传域AZFa区,AZFb区和AZFc区。在本文中将对AZF基因结构和功能作一综述。     

Spermatogenic ability is different among males in different Y chromosome lineage

It is a controversial question whether sperm concentrations in humans are changing. Several researchers have reported on environmental factors affecting sperm quality, but the influence of genetic factors is still not fully understood. In this study, we examined the relationship between Y chromosome haplotypes and sperm concen-tration in fertile males. In addition, we determined the haplotypes of azoospermic patients. The results show that the mean sperm concentration correlates with Y chromosome type. Moreover, the occurrence of azoospermia is related to one particular Y chromosome lineage. Thus, males with a certain haplotype are at a disadvantage for fathering children. The difference of spermatogenic ability among men is important not only in pursuing male competition as in the past but also as relates to the future of modern human males. Received: May 28, 1999 / Accepted: May 29, 1999     

Microdeletions in the Y chromosome in cases of male infertility in a population of West Bengal

IntroductionInfertility is a burning problem in gynecological, andrological, endocrine and genetic practice. Of the myriad factors responsible for male infertility, which may be manifested as oligozoospermia or azoospermia, the exact causes of the latter are still unknown or debatable. Among the known parameters, the occurrence of microdeletions in the long arm of the Y chromosome are of great importance, as they have been consistently associated with defects in spermatogenesis. The microdeletions of the Y chromosome have been mapped to three regions in interval 6 named azoospermia factor regions (AZF), AZFa, AZFb and AZFc.MethodsIn the present study 80 males suffering from oligozoospermia or azoospermia were taken from both rural and urban infertility clinics and subjected to Polymerase Chain Reaction (PCR) of DNA from blood samples using a total of 11 STS primers. These primers correspond to different segments of the AZF regions (AZFa, AZFb and AZFc) and are known as Sequence Tagged Sites (STS). This was followed by agar gel electrophoresis to look for deletions in the AZF regions corresponding to the STF primers.ResultThese tests were able to detect microdeletions in the long arm of the Y chromosome in 4 patients.DiscussionIn majority of patients PCR detects no abnormality but in cases having microdeletions, appropriate advice could be given to the patients. These patients were told to avoid the use of their sperm in assisted reproduction procedures and accept the use of donor sperm or adoption procedures as a solution to their problems of infertility.     

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