429例大Y染色体核型与临床效应观察分析

目的探讨大Y染色体核型是否能造成临床效应.方法采用外周血淋巴细胞培养和G显带染色体核型分析. 结果在检出的429例大Y染色体患者中,有384例其妻表现有不同类型的生殖异常(包括流产、胚停育、死胎、畸胎、生育过缺陷儿、早产儿或染色体异常儿等),22例不育,5例生长发育迟缓,18例精子发生各种异常等.结论大Y染色体可导致不同程度的临床效应.     

Y染色体异常核型的遗传效应初探

目的探讨Y染色体异常与疾病的关系。方法采用外周血淋巴细胞G显带技术、C显带技术以及基因检测技术,对遗传咨询患者进行遗传学检查。结果检出Y染色体异常220例,其中大Y 206例,小Y 2例,染色体结构异常12例。临床主要表现为男性不育,其妻习惯性流产,其妻有死胎史,其妻有畸型儿生育史等。结论Y染色体异常是男性不育、其妻不良孕产的重要因素,大Y染色体核型与生育异常、男性不育有一定的关系。     

大Y染色体核型与疾病的关系探讨

目的 探讨大Y染色体核型与疾病的关系。方法 采用外周血淋巴细胞G显带技术，对患者进行细胞遗传学检查。结果 146例大Y染色体核型的患者，临床主要表现为不育，其妻习惯性流产，其妻有死胎史，其妻有畸形儿畸形儿生育史等。结论 大Y染色体核型与疾病有一定的关系。     

大Y染色体的临床效应

近年来对大Y染色体的遗传效应争论颇多，为了进一步探讨大Y的临床效应，我们对本实验室近几年染色体核型分析中发现的246例大Y进行了回顾性分析。     

96例Y染色体异常核型与疾病的关系

应用外周血淋巴细胞培养Ｇ显带技术,对１５６１例患者进行细胞遗传学检查。检出异常染色体２５２例,其中,Ｙ染色体异常９６例,均有不同程度的临床效应,包括８种细胞核型,对这些核型及其与疾病的关系进行分析讨论。其中Ｙ染色体异常大部分表现为胎儿丢失和有畸形儿生育史。大Ｙ与生育异常的关系一直有争论。作者认为,大Ｙ与生育异常有关。     

大Y染色体与临床效应分析

目的与方法对我院门诊及住院550例成人及480例胎儿进行细胞遗传学检查。结果成人大Y 50例占9%,胎儿大Y30例占6.25%。结论大Y染色体与不孕、流产、先兆流产、精子异常、智力低下等临床效应有关,与AFP及HCG变化有关。     

大Y染色体核型在男性生殖中临床效应的探讨

目的探讨大Y染色体核型与男性生殖异常的关系。方法外周血淋巴细胞染色体核型分析男性生殖异常患者386例及正常男性对照85例。结果386名男性患者中,发现大Y染色体核型共94例,检出率24.35%。其中少弱畸精患者大Y发生率为35.37%(52/147);无精患者28.13%(9/32)32例;配偶不良孕产史患者15.94%(33/207)。正常对照85例中共检出6例大Y染色体核型,发生率为7.06%。3组大Y染色体核型发生率与正常对照组相比均有显著性差异(P<0.05)。结论大Y染色体核型与精子生成和不良孕产的发生有关,应引起足够的重视。     

大Y染色体的临床效应分析

目的研究大Y染色体与男性不育患者精液异常和不良妊娠的关系。方法对临床诊断为少精子症或无精子症的不育患者,其妻有不良妊娠史等患者抽取外周血进行淋巴细胞培养、G显带、核型分析。结果在326例被检者中,发现大Y染色体96例,检出率为29.4%。结论大Y染色体与男性不育、不良妊娠有关。     

长沙地区1424例不孕不育症染色体核型分析

目的分析不孕不育患者染色体核型,以了解遗传因素在不孕不育原因中的重要性。方法常规外周血细胞培养和染色体标本制备,并对染色体核型进行分析。结果1424例不孕不育患者中,有染色体异常者281例,其中数目异常者44例,结构异常者26例,形态变异211例,分别为不孕不育患者的19.73%、3.09%、1.83%和14.82%。结论在分析不孕不育原因时,染色体核型异常的情况不可忽视,部分染色体核型异常者,目前无特效治疗,但可采用辅助生殖技术解决生育问题,以避免人力物力的巨大浪费。     

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。     

Y chromosome length related to fetal loss

The Y/20 ratio (length of Y chromosome/length of chromosome 20) was examined among 216 males, 108 of whose wives had a history of repeated abortions (study group), and 108 who were mentally retarded (controls). There was no significant difference in frequency of long Y (Y/20 equal to or greater than 1) between the study group and controls. Also, there was the expected male: female ratio among normal living children of couples in the study group, and the Y/20 ratio was not significantly increased among fathers with abnormal male offspring. However, wives of long Y males were more likely to have at least one abnormal male birth, compared with other wives (this approached statistical significance, p less than 0.08). In addition, a significantly higher frequency of long Y was found in a subset of affected males whose wives had 2 or more spontaneous abortions plus some other abnormal pregnancy outcome. Although the findings reported here do not strongly support a causal relationship, they at least suggest an association between long Y chromosome and abnormal fetal development.     

荧光原位杂交分析胰腺癌Y染色体丢失

目的 探讨男性胰腺癌Y染色体丢失与胰腺癌发生的相关性。方法 选择Y染色体长臂Yq12区域(异染色质区)DNA片段作为探针,同时选择X染色体着丝粒区(a卫星DNA)探针作为对照,通过在石蜡切片标本上进行间期细胞双色荧光原位杂交,分析15例男性胰腺癌组织Y染色体丢失的状况：结果15例胰腺癌中有10例的胰腺癌细胞存在Y染色体丢失现象,癌细胞周嗣其他细胞和正常胰腺细胞中Y染色体数目没有改变。结论 男性胰腺癌细胞中存在非随机的Y染色体丢失现象,这种高频发生的分子细胞遗传学改变很可能是胰腺癌的特征性标记之一。     

The significance of Y chromosome microdeletion analysis in subfertile men with clinical variocele

Introduction

The aim of study is determining the cost-effectiveness of detection analysis in the presence of exceptional patients who have mild semen disorders, and beware of unnecessary varicocele repairs; and to ascertain whether patients with clinical varicocele should undergo Y chromosome (Yq) microdeletion analysis as a routine procedure.

Material and methods

Varicocele with reflux was diagnosed in 51 male patients with subfertility symptoms upon physical examination (PE), confirmed by scrotal colour-Doppler ultrasound (CDU). After cytogenetic examination, Yq microdeletion analysis was performed on the peripheral blood samples using Promega Y Chromosome Deletion Detection System Version 2. Varicocele repair was performed under general anaesthesia with optical magnification (3-fold) through a subinguinal approach.

Results

The mean age of the patients was 27.9. Values of semen concentration ranged from 0 to 72 million/ml, motility from 0 to 65% (A + B) and Kruger from 0% to 18%. The PE revealed normal size and consistency in the bilateral testicles. All patients were cytogenetically normal. However, Yq microdeletion was detected in 2 patients, 1 with mild oligoteratozoospermia and partial AZFb deletion (sY121) and the second patient with severe oligozoospermia and partial AZFc deletion (sY254 and sY255), and they were not subjected to varicocelectomy.

Conclusions

The routine performance of pre-operative Yq microdeletion analysis in patients with clinical varicocele does not seem to be cost-effective but the omission of patients with mild oligozoospermia would have subjected them to an unnecessary varicocelectomy and/or further ICSI applications and also would have caused the failure of referral for genetic counselling.     

Y染色体微缺失及生殖激素水平改变与少精子、无精子症关系的研究

目的探讨Y染色体微缺失及生殖激素水平改变与少精子、无精子症间的关系。方法应用多重聚合酶链反应技术对256例少精子、无精子患者（少精子症92例,无精子症164例）和正常对照组50例进行Y染色体微缺失检测以及生殖激素水平检测。结果发现256例少精子、无精子症患者中无精子因子（azoospermia factor,AZF）微缺失的发生率为12.89%（33/256）,其中164例无精子症患者微缺失24例（24/164,14.63%）,92例少精子症患者微缺失9例（9/92,9.78%）;少精子、无精子症病人中卵泡刺激素（FSH）、黄体生成素（LH）的量明显高于正常对照组（P〈0.05或P〈0.01）;而睾酮（T）的含量明显低于对照组（P〈0.05或P〈0.01）;血清泌乳素（PRL）和雌二醇（E2）的含量与正常组相比差异无明显性（P〉0.05）。结论 Y染色体微缺失及FSH、LH、T水平与少精子、无精子症关系密切,可能是引起少精子、无精子症的原因之一。     

In situ fluorescence hybridization of Y translations: cytogenetic analysis using probes Y190 and Y431

Two moderately repetitive DNA probes (Y190 and Y431) and a fluorescent in situ hybridization technique, using a biotin, avidin, anti-avidin system, were employed to investigate a group of patients with Y chromosome abnormalities. In normal male subjects, a bright fluorescent spot could be detected in cells in interphase and on the short arm of the Y chromosome in metaphase spreads. Translocations of DNA fragments of the short arm of the Y chromosome to autosomes 10, 13 and 15 were observed in five patients. In a 45,XX male subject the translocation involved one of the X chromosomes. With this in situ hybridization procedure, bright fluorescent spots were also noticed in uncultured amniotic cells and chorionic cellular elements from male fetuses, thus allowing a rapid and reproducible approach to prenatal fetal sexing.     

Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction

We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq have been mapped using Southern blotting and polymerase chain reaction analysis. This paper provides additional information on the analysis of Y chromosome aberrations, and suggests that the stability of the Y chromosome in these instances is related to the site of the break point on Yq.     

Two mosaic-YY males carrying asymmetric Y chromosomes

Two patients were referred because of oligospermia and azospermia, respectively. Karyotypic analysis revealed two mosaic-YY males carrying asymmetric Y chromosomes. To our knowledge, no instance of double unequal Y chromosomes has been reported so far in human males. Results of fluorescent in situ hybridization (FISH) studies in spermatozoa from one of these patients revealed a significantly high number of hyperaploid spermatozoa.