Y染色体无精子症因子微缺失的筛查与临床探讨

目的筛查男性不育患者Y染色体无精子症因子(AZF)微缺失发生率,并分析缺失类型与临床表型的关系。方法选取2013年1~12月于佛山市妇幼保健院男科就诊的男性不育症患者200例,其中非梗阻性无精子症141例,重度少精子症59例;另选取100例正常孕育男性作为阳性对照;100例正常孕育女性作为阴性对照。采用聚合酶链反应分析男性Y染色体AZF微缺失。结果特发性不育组AZF微缺失率显著高于非特发性不育组,差异有统计学意义(P0.05)。在所有AZF微缺失类型中以AZFc最常见,占55.6%;非梗阻性无精子症组与重度少精子症组微缺失率及微缺失类型分布情况比较,差异无统计学意义(P0.05)。结论Y染色体AZFa、AZFb、AZFc区微缺失与男性不育具有密切的相关性。     

成都地区男性原发性无精症患者Y染色体AZF区域微缺失基因诊断的研究

目的 建立原发性无精子症患者的Y染色体微缺失基因诊断方法。方法 采用多重PCR技术。对123例原发性无精子症患者和34例正常已生育男性对照进行Y染色体微缺失检测。结果 123例原发性无精子症患者中。16例发生了Y染色体微缺失。缺失率13．01％。其中无精症因子（AZFa）区sY86缺失4例（3．25％）；AZFb区sY134缺失2例（1．63％）；AZFc区sY255缺失8例（6．5％）；sY86和sY134同时缺失2例（1．63％）。34例已生育男性均未检测到Y染色体微缺失。结论 研究所确定的6个STS位点缺失与男性原发性无精子症密切相关。利用上述STS位点建立的多重PCR技术进行微缺失分析简便、快速、准确。值得推广应用。     

Y染色体微缺失检测在男性不育的临床应用

目的探讨Y染色体微缺失检测与男性不育的相关性及临床意义。方法利用分布于AZFa、AzFb、AzFc、AZFd区15个Y染色体特异序列标签位点,以4组多重PCR技术对3l例无精和165例严重少精患者及30例已婚自然生育男性自愿者进行Y染色体微缺失检测。结果196例无精症或严重少精症患者中,Y染色体微缺失14例,缺失率为7．14％（14／196）,最常见Y染色体微缺失是AZFc＋d。30例对照组没有发现任何缺失。其中AZFa区缺失4例（28．57％）和AZFc＋d区缺失5例（35．72％）,均表现为严重少精症;AZFb＋c＋d区缺失者4例（28．57％）,1例为无精症,3例为严重少精症;AZFa＋b＋c＋d区均缺失者l例（7．14％）,表现为无精症。结论Y染色体微缺失是男性不育的重要病因,其检测为男性不育临床诊断和治疗提供科学依据。     

Y染色体微缺失与男性无精少精的相关关系

目的探讨Y染色体微缺失与男性无精少精的相关关系和临床意义。方法利用15个Y染色体特异序列标签位点,以多重PCR法对广州军区总医院2006年1月-2008年1月门诊的151例男性不育患者(25例无精症、126例少精症)进行Y染色体微缺失(AZF)检测。对照组为40例已正常生育的男性。结果151例男性不育患者中,AZF缺失8例,总缺失率为5.3%,其中25例无精症不育患者中,AZF缺失3例,缺失率为12%;126例少精症不育患者中,AZF缺失5例,缺失率为4.0%。AZFc和AZFd为缺失热区。对照组40例正常男性均未发现Y染色体微缺失。结论AZF缺失是男性不育症的重要原因之一,对临床上无精症、少精症患者应进行Y染色体微缺失检测。     

男性不育Y染色体微缺失的诊断及临床意义

目的 探讨男性不育Y染色体微缺失的诊断及临床意义。方法 提取患者精子中的DNA多重PCR扩增，对扩增物进行分析。结果 28例患者中共检出Y染色体微缺失3例，缺失率9．3％。结论 诊断Y染色体微缺失，找到不育的真正原因，从而避免不必要的药物及手术治疗，如一些激素的应用及精索静脉曲张的手术治疗，具有重要的临床意义。Y染色体微缺失基因与男性不育的研究及现状，为临床诊断、治疗男性不育症提供了依据。     

无精症或严重少精症患者Y染色体微缺失的检测

目的探讨不育男性无精子症或严重少精子症与Y染色体微缺失之间的关系。方法利用多重PCR法检测无精子症或严重少精子症患者的Y染色体微缺失情况。结果52例无精子症或严重少精子症患者中共检出Y染色体微缺失4例,缺失率为7.69%。精液正常者（对照组）12例未发现Y染色体微缺失。4例Y染色体微缺失的无精子症患者睾丸细胞学检查均未发现精子。结论Y染色体微缺失是造成男性精子发生障碍的常见病因之一。     

无精症或严重少精症患者Y染色体微缺失的检测

目的探讨不育男性无精子症或严重少精子症与Y染色体微缺失之间的关系。方法利用多重PCR法检测无精子症或严重少精子症患者的Y染色体微缺失情况。结果52例无精子症或严重少精子症患者中共检出Y染色体微缺失4例,缺失率为7.69%。精液正常者（对照组）12例未发现Y染色体微缺失。4例Y染色体微缺失的无精子症患者睾丸细胞学检查均未发现精子。结论Y染色体微缺失是造成男性精子发生障碍的常见病因之一。     

严重少精子症及无精子症的遗传学分析

目的：探讨严重少精子症、无精子症与遗传学的关系。方法采用外周血细胞培养染色体检查和多重PCR 技术对142例严重少精子症和178例无精子症患者进行细胞遗传学和 Y 染色体 AZF 微缺失检测,同时对100例精液参数正常男性进行 AZF 微缺失检测作为对照。结果在严重少精子症患者中,染色体异常率为16．20％（23/142）,AZF 缺失率为9．86％（14/142）;在无精子症患者中,染色体异常率为19．66％（35/178）,AZF 缺失率为11．24％（20/178）;精液参数正常患者未检出 AZF 微缺失。在严重少精子症和无精子症患者中,染色体异常和 AZF 缺失比例均显著高于精液参数正常对照组。结论染色体异常和 AZF 微缺失是引起男性不育的重要原因,通过染色体和AZF 微缺失检测可以为优生优育提供可靠的遗传信息依据。     

山东地区260例男性不育Y染色体AZF微缺失诊断的临床研究

目的探讨山东地区男性不育人群与 Y 染色体无精子因子（AZF）微缺失的关系。方法采用外周血染色体G带检测方法对患者行染色体核型分析,筛选出Y染色体整体形态偏小者,对符合纳入标准的260例患者分为少精症患者A组（130例）和无精症患者B组（130例）,正常男性对照组C组（20例）及空白对照组D组。采用多重PCR扩增检测技术对Y染色体形态偏小患者进行AZF微基因检测。结果从检测出Y染色体形态偏小患者260例中,共检出54例Y染色体AZF微缺失,C组无AZF基因缺失,与A、B组比较,AZF a,b,c总缺失率明显低于A、B组,且有显著性差异（P＜0.05）。结论 Y染色体AZF微缺失可能是造成男性无精子症或少精子症的主要因素,因此对男性不育患者进行Y染色体AZF微缺失诊断具有重要意义。     

男性不育患者Y染色体AZF基因微缺失检测和染色体核型分析

目的 探讨男性不育的遗传因素。方法 采用多重荧光定量PCR方法对60例严重少、弱精症和无精症的不育患者进行Y染色体AZF基因微缺失检测,同时用G显带方法分析染色体核型。结果 60例患者中有5例染色体核型异常,检出率为8.33%,且异常核型均为47,XXY,即克氏综合征。Y染色体AZF基因微缺失检出2例患者,检出率为3.33%,缺失类型均为AZFc区缺失。30例精液常规正常的健康志愿者未检出Y染色体AZF基因缺失。结论 染色体核型异常及Y染色体AZF基因微缺失与男性不育密切相关,且克氏综合征和AZFc区缺失为常见的异常类型。     

男性不育患者Y染色体微缺失筛查与意义分析

目的 探讨男性不育与Y染色体微缺失之间的关系.方法 利用6个Y染色体特异序列标签位点,以多重PCR技术对172例患者进行Y染色体AZF区域的微缺失筛查.结果 172例患者中共检出Y染色体微缺失7例,其中无精子症4例,少精子症3例,缺失率分别为15.38%和9.68%.正常生育组30例未发现Y染色体微缺失.结论 Y染色体微缺失筛查所用的标志物对于精子密度的减少可能是特异性的,Y染色体微缺失检测适用于临床上无精症和少精症的男性不育患者.     

Y染色体微缺失及其检测方法

全世界大约有15％的夫妇不育,其中男性不育约占50％.Y染色体长臂上的AZF缺失是导致男性不育的重要因素.AZF进一步分为AZFa、AZFb和AZFc 3个区域,不同区域的微缺失引起不同程度的精子发生障碍.因此Y染色体微缺失的检测对男性不育的诊治有很重要的指导意义.目前Y染色体微缺失常用的检测方法有多重定性PCR法、实...     

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

The genetic basis of infertility has received increasing recognition in recent years, particularly with the advent of assisted reproductive technology. It is now becoming obvious that genetic etiology for infertility is an important cause of disrupted spermatogenesis. Y-chromosome microdeletions and abnormal karyotype are the two major causes of altered spermatogenesis. To achieve biological fatherhood, intracytoplasmic sperm injection (ICSI) is performed in cases of severe infertility with or without genetic abnormalities. There is a concern that these genetic abnormalities can be transmitted to the male progeny, who may subsequently have a more severe phenotype of infertility. A total of 200 men were recruited for clinical examinations, spermiograms, hormonal profiles, and cytogenetic and Yq microdeletion profiles. Testicular biopsy was also performed whenever possible and histologically evaluated. Genetic abnormalities were seen in 7.1% of cases, of which 4.1% had chromosomal aberrations, namely Klinefelter's mosaic (47XXY) and Robertsonian translocation, and 3.0% had Yq microdeletions, which is very low as compared to other populations. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased in men with nonobstructive azoospermia (NOA) as compared to severe oligoasthenozoospermia (P<0.0001), whereas testosterone levels were significantly decreased in men with microdeletions as compared to men with no microdeletions (P<0.0083). Low levels of androgen in men with microdeletions indicate a need to follow-up for early andropause. Patients with microdeletions had more severe testicular histology as compared to subjects without deletions. Our studies showed a significant decrease (P<0.002) in the serum inhibin B values in men with NOA, whereas FSH was seen to be significantly higher as compared to men with severe oligoasthenozoospermia (SOAS), indicating that both the Sertoli cells as well the germ cells were significantly compromised in cases of NOA and partially affected in SOAS. Overall inhibin B in combination with serum FSH would thus be a better marker than serum FSH alone for impaired spermatogenesis. In view of the genetic and hormonal abnormalities in the group of infertile men with idiopathic severe oligozoospermia and NOA cases, who are potential candidates for ICSI, genetic testing for Y-chromosome microdeletions, karyotype, and biochemical parameters is advocated.     

桂西地区原发性无精子症和严重少精子症患者Y染色体无精子因子检测分析

目的探讨桂西地区原发性无精子症和严重少精子症患者Y染色体无精子因子(AZF)微缺失状况。方法采用多重聚合酶链反应技术对桂西地区56例原发无精子症、78例原发严重少精症患者及40例正常生育男性进行4个区域15个位点微缺失分析。结果 40例正常生育男性未发现Y染色体AZF微缺失,134例生精障碍患者中发现AZF微缺失14例,总缺失率为10.5%。生精障碍组与正常生育组比较Y染色体AZF微缺失率差异具有统计学意义(P<0.01)。结论 Y染色体AZF微缺失是男性原发无精、少精子症的重要原因之一,AZF微缺失检测对男性不育症患者进行遗传学诊断与筛查有一定意义。     

Ascorbic Acid in Human Seminal Plasma: Determination and Its Relationship to Sperm Quality

The objective of the present study was to assess the ascorbic acid (AA) levels in seminal plasma of the fertile and infertile men and to investigate its relationship with sperm count, motility and normal morphology. Semen samples were provided by fertile [smoker (n = 25), nonsmoker (n = 21)] and infertile men [smoker (n = 23), nonsmoker (n = 32)]. A simplified method of reverse phase high performance liquid chromatography (RP-HPLC) procedure using UV detection was applied for the determination of seminal AA. Fertile subjects, smoker or not, demonstrated significantly higher seminal AA levels than any infertile group (p<0.01). Nonsmokers had high, but no significant, mean AA levels in their seminal plasma compared with smokers. Seminal AA in fertile and infertile (smokers or nonsmokers) males correlated significantly with the percentage of spermatozoa with normal morphology (p<0.01). Seminal AA decreased significantly in infertile men. Decrease of seminal plasma AA is a risk factor for low normal morphology of spermatozoa and idiopathic male infertility. Measurement of seminal AA in the seminal plasma of males with a history of subfertility or idiopathic infertility is necessary and can be helpful in fertility assessment.     

应用改良多重PCR筛查不育症患者Y染色体无精子症因子微缺失

目的 评价改良多重PcR筛查男性非梗阻性无精子症和严重少精子症患者Y染色体AZF缺失类型的价值.方法 在Y染色体STS常规引物序列的5'端连接一段非人类同源序列的寡核苷酸链,合成嵌合引物对.根据非人类同源序列的寡核苷酸链设计通用引物对,与嵌合引物对在同一反应体系中对人类基因组DNA进行多重PCR扩增,并用以评价筛查262例非梗阻性无精子症和严重少精子症患者中AZF a、b、c区域的微缺失状况.结果 用改良多重PCR筛查262例非梗阻性无精子症和严重少精子症患者,发现AZF微缺失33例(12.60%),其中AZF c缺失27例,AZF b+c缺失6例,与EMQN推荐方法检测的结果相比,缺失阳性符合率为100%(33/33),且未出现假阳性.改良多重PCR与EMQN推荐方法检测Y染色体多个STS的电泳结果显示,2种方法得到的sY84、sY86、sY127、sY134、sY254、sY255、SRY位点扩增产物的均一性好,扩增产物条带清晰.结论 改良多重PCR能较好地筛查出男性非梗阻性无精子症和严重少精子症患者Y染色体AZF缺失类型.     

FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males

BackgroundFollicle stimulating hormone receptor (FSHR), which mediates the effects of FSH, is essential for normal spermatogenesis and male reproduction. This study aimed to investigate the effects of the FSHR polymorphisms on idiopathic male infertility and serum FSH levels in Han-Chinese population.MethodsA case–control study was conducted with 364 idiopathic infertile patients (97 nonobstructive azoospermic, 79 oligozoospermic and 188 normozoospermic) and 281 fertile controls. Three polymorphisms at nucleotide position ? 29 and codons 307 and 680 of the FSHR gene were genotyped by Taqman allelic discrimination and RFLP. FSH levels were measured by RIA.ResultsThe allele and genotype frequencies of these three polymorphisms were not significantly different between each group of the cases and controls. Serum FSH concentrations did not differ between subjects with different genotypes within each group. Together the three SNPs mainly formed four discrete haplotypes. The distribution of the haplotype was not different between each group of infertile men and fertile controls and did not influence serum FSH levels in each group.ConclusionsOur findings suggest that the FSHR polymorphisms at the studied sites do not associate with idiopathic male infertility and have no influence on FSH levels both in normal and infertile males in the Han-Chinese population.