生精障碍与染色体畸变的检测分析

男性的精子生成和精子输送是个复杂的生理过程。精子的发生受到诸多有序表达的基因控制 ,完成细胞分裂及形态改变 ,染色体结构数目的畸变可影响这些基因的功能进而影响精子的发生导致不育。本文对 89例无精子少精子症病人进行了细胞遗传学分析 ,共发现 8例染色件核型异常 :对其中 2例涉及Ｙ染色体结构异常的无精子症病人还进行了ＹＲＲＭ1ＤＹＳ2 40ＤＮＡ片段的检测 ,对 1例 46 ,ＸＸ男性无精子症病人进行ＳＲＹＤＮＡ片断和ＹＲＲＭ1ＤＹＳ 2 40ＤＮＡ的检测。以下从所涉及的染色体及其片段断裂点对精子发生的作用进行分析。资料与方法对 …     

生精障碍患者的染色体核型分析

目的探讨染色体异常与男性生精障碍的关系。方法对429例生精障碍者进行外周血淋巴细胞培养,G显带染色体核型分析。结果检出染色体异常核型44例,检出率为10．3％。其中,无精子症、重度少精子症和少弱精子症的染色体异常检出率分别为15．8％、6．1％和4．7％,以无精子症最高。染色体异常包括性染色体数目、结构异常和常染色体异常,以性染色体数目异常为主。结论染色体异常是导致生精障碍的重要原因之一,生精障碍程度越高,染色体异常检出率越高。对生精功能障碍的男性患者有必要进行染色体核型分析。     

AZF微缺失与生精障碍症的研究分析

目的探讨Y染色体AZF微缺失与生精障碍症(男性原发性无精子症和少精子症)之间的关系。方法采用多重聚合酶链反应技术对158例生精障碍症患者(包括健康男性50例)进行AZFa、AZFb、AZFc和AZFd四个区域微缺失分析。结果 158例生精障碍症患者中发现AZF微缺失21例,总缺失率为13.3%。结论 Y染色体AZF区域微缺失与男性生精障碍症有着明显的相关性,因此有必要对生殖门诊及准备行辅助生育技术的生精障碍症患者行Y染色体AZF微缺失检测,其对该症的诊断及治疗具有重要的意义。     

热休克蛋白与动脉粥样硬化

脉粥样硬化(atherosclerosis, AS)是一种发生在血管内膜表面由于结构异常以及代谢紊乱而导致的疾病.     

112例生精障碍患者细胞遗传学分析

生精功能障碍是男性不育的一个重要原因,约占男性不育的10%,它表现为无精子症和严重的少精子症.本文对自1991年至2002年112例生精障碍患者进行细胞遗传学分析,现报告如下.     

热休克蛋白的应用前景

在不利的环境中,机体都有共同的反应,即正常基因的表达抑制和一组特殊基因热休克基因的激活和表达,这一普遍的生物现象称为热休克反应,其产物热休克蛋白是一组非常保守的蛋白分子家族。它们介导其它蛋白质的跨膜转运和正确装配,起着“分子伴侣”的重要作用,与细胞的许多重要生理过程相关,在维持细胞正常功能上起关键作用。由于它具有高度保守性及众多的生物学功能,其研究日益受到广泛重视。     

液相芯片技术检测Y染色体无精症因子区域微缺失

目的 建立一种液相芯片技术检测Y染色体无精症因子区域微缺失诊断男性不育的新方法.方法 应用多重PCR和液相芯片技术,对178例无精症、134例少精症及严重少精患者和正常男性对照进行Y染色体微缺失检测.结果 在312例患者中发现40例Y染色体微缺失(12.8%),其中无精症患者中缺失率为14%(25/178),少精症患者缺失率为9.6%(11/114),严重少精症患者缺失率为20%(4/20).结论 应用液相芯片技术检测Y染色体微缺失,具有高通量、灵敏度高、特异性强、重复性好、快速简便、自动化等优点,与多重PCR相结合使对无精症和少精症的诊断更加准确、可靠.     

热休克蛋白调控的研究进展

热休克蛋白-肽复合物,在机体杀伤肿瘤细胞中发挥了关键的作用,因而以热休克蛋白肽为基础的肿瘤疫苗成为研究的热点。通过热休克处理、细胞因子共孵育等方法,可促进细胞表达热休克蛋白肽;口服某些化合物也能促进机体细胞热休克蛋白肽的表达。这些方法能促进热休克蛋白肽的表达,便于制备充足的疫苗应用于临床,具有广阔的发展前景。     

直接低渗法制备男性不育症精液生精细胞染色体观察

目的：研究男性不育症生殖细胞减数分裂过程、生精细胞染色体畸变与不育的关系。方法：选择不育门诊中１９例男性原发不肓患者精液和４例禁欲期正常男性志愿者精液，应用直接低渗法，获得各级生精细胞（精原细胞、初级／次级精母细胞、精细胞）分裂相。结果：不同样本精液中各级生精细胞分裂相分布有极显著性差异（Ｐ〈０．００５）；弱精症患者精液标本中主要为ＭＩ单价体、染色单体畸变，少精症和无精症主要为联会消失、减数分裂阻断。结论：直接低渗法能为诊断男性不育提供有价值的细胞遗传学信息。生精细胞染色体畸变、减数分裂过程异常是导致男性不肓的原因之一。     

特发性无精症和严重少精症患者Y染色体无精子因子的微缺失检测

生精障碍是男性不育的主要原因。研究发现，位于Y染色体长臂上存在着被称为无精子因子(azoospermia factor，AZF)的基因，它的DNA微缺失可以导致男性生精障碍所致的男性不育症。本文报道采用PCR方法对65例特发性无精症或严重少精症患者进行Y染色体的AZF基因微缺失的检测结果。     

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.     

Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism

The Y chromosome provides a unique opportunity to study mutational processes within the human genome, decoupled from the confounding effects of interchromosomal recombination. It has been suggested that the increased density of certain dispersed repeats on the Y could account for the high frequency of causative microdeletions relative to single nucleotide mutations in infertile males. Previously we localised breakpoints of an AZFa microdeletion close to two highly homologous complete human endogenous retroviral sequences (HERV), separated by 700 kb. Here we show, by sequencing across the breakpoint, that the microdeletion occurs in register within a highly homologous segment between the HERVs. Furthermore, we show that recurrent double crossovers have occurred between the HERVs, resulting in the loss of a 1.5 kb insertion from one HERV, an event underlying the first ever Y chromosomal polymorphism described, the 12f2 deletion. This event produces a substantially longer segment of absolute homology and as such may result in increased predisposition to further intrachromosomal recombination. Intrachromosomal crosstalk between these two HERV sequences can thus result in either homogenizing sequence conversion or a microdeletion causing male infertility. This represents a major subclass of AZFa deletions.     

Y染色体变异与男性不育

男性不育是一种常见的复杂疾病,Y染色体连锁生精障碍是该病的一个重要病因.Y染色体男性特异性区域存在大量的重复序列,这些序列间频发的染色体内非等位性同源重组,使Y染色体具备了高变异率的特点,这些结构变化较易引起生精相关基因的剂量改变,进而导致男性不育.作者对近年来DNA水平上男性不育相关的Y染色体变异研究进行了综述.     

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     

Localization of 24 cosmid clones on the human Y chromosome

Summary Twenty-four novel cosmid clones were cloned and mapped on the human Y chromosome using a panel consisting of DNA from seven individuals each having a different segment of the Y chromosome. Eight were assigned to the short arm, 15 to the long arm and 1 to the both short and long arms.     

Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage

A polymorphism in the coding sequence of the SRY gene was found by single-strand conformation polymorphism (SSCP) and direct sequencing analysis. The new allele of the SRY gene, which is raised by a C-to-T transition in the 155th codon, was found in 24% of Honshu, 35% of Okinawan, and 51% of Korean males respectively, whereas it was not observed among 16 Caucasian and 18 Negroid males. A haplotype analysis of the Y chromosome was carried out in Japanese, Korean, Caucasian and Negroid populations, using a combination of the polymorphisms in SRY, DXYS5Y, DYS287, and DXYS241Y loci. The results indicated that the Y chromosomes can be classified into seven haplotypes (Ia, Ib, Ic, IIa, IIb, III, IV). However, of these seven, only four (Ia, IIa, III, IV) were observed in the Japanese population. Furthermore, the presumed haplotype C, Y1, YAP, (CA)₁₄, from which haplotype III was probably derived, was not found in any populations in this study. The regional distribution of each haplotype revealed that type III is more frequently observed in Okinawa (16%) and in Korea (21%) than in Honshu (4.4%). The haplotype analysis of the Y chromosome may contribute to the exploration of the origin of Japanese and the relationship between east Asian populations. Received: February 25, 1999 / Accepted: April 5, 1999     

土尔扈特人Y染色体分子遗传学特征

目的 探讨土尔扈特人Y染色体分子遗传学特征。 方法 采用随机取样方法,遵循知情同意和伦理学原则,于2015年9月在内蒙古自治区额济纳旗采集了49例土尔扈特人外周静脉血5 ml。对49份样本Y染色体17个Y-STR位点进行复合扩增检测,获得每份样本的基因分型数据,应用Past v2.17和NetWork 11.0统计学软件对数据进行分析。 结果 土尔扈特人主要的单倍群是C3、O3、N、R。土尔扈特人、巴尔虎蒙古族、厄鲁特蒙古族、喀尔喀蒙古族、呼伦贝尔布里亚特人、哈萨克族、达斡尔族、蒙古国蒙古族C3单倍群频率最高。从各单倍群频率的分布来看,土尔扈特人与巴尔虎蒙古族最相近。16个族群基本按地域分开,土尔扈特人接近于呼伦贝尔布里亚特人、巴尔虎蒙古族、厄鲁特蒙古族、喀尔喀蒙古族、哈萨克族、俄罗斯布里亚特人、蒙古国蒙古族。土尔扈特人与东乡族、保安族相距较远。 结论 土尔扈特人与呼伦贝尔布里亚特人、巴尔虎蒙古族和厄鲁特蒙古族处在相近的进化枝上,具有遗传上的相似性。     

Y染色体异常的细胞遗传学研究及其临床效应分析

分析了68例Y染色体异常(除外数目异常)与各种临床表现的相关性。结果 Yp-14例，占20．59％；Yp 2例；占2．94％；Yq-19例，占27．94％；大Y32例，占47．06％。结论 Y染色体异常与不育、精子异常、流产、智力低下等临床效应有关。     

Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies

The extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y-specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich-Turner-like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns. © 1995 Wiley-Liss, Inc.