不良孕产夫妇着丝粒—动粒复合体的细胞遗传学研究

为研究不良孕产夫妇着丝粒－动粒复合体（centromere kinetochore complex,CKC)变异与不良孕产的相关性,探索不良孕产中非整倍体表成的细胞遗传学基础,应用改良的着丝粒点－核仁组织区（Cd-NOR)同步银染技术,分别对53对不明原因的不良孕产夫妇和57对已生育正常儿的正常夫妇外周血淋巴细胞染色体CKC变异类型及频率进行研究和分析。结果发现,不良孕产夫妇其小Cd,Cd消失、Cd迟滞和Cd-NOR融合频率均较正常对照组明显增高,两相比有显性差异（P＜0．05）。CKC变异频率增高可能是导致不良孕产非整倍体形成的主要原因之一。     

染色体着丝点结构变化与习惯性流产的关系

为探讨染色体Cd结构变化与习惯性流产关系,采用Cd-NOR同步银染技术,对38例习惯性流产患者和42例正常人Cd结构变异、Cd结构消失、Cd结构最大横径和Cd-NOR融合进行测量和比较分析。发现习惯性流产患者的Cd结构变异和Cd结构消失的频率明显高于正常人,Cd结构最大横径明显小于正常人。Cd结构消失和Cd结构变异频率的增高以及Cd结构最大横径变小可能是影响习惯性流产的相关因素。 Abstract:To study the correlation between chromosome centromeric dots and habitual abortions,Cd variation,Cd loss,maximum diameter of Cd and Cd-NOR of 38 habitual abortion patients and 42 healthy persons were measured,compared and analysed with Cd-banding technique.It was found that the frequencies of Cd variation and Cd loss were obviously higher and maximum diameter of Cd was smaller in habitual abortion patients than those in healthy persons.The increase of frequencies of Cd variation and Cd loss and the decrease of maximum diameter of Cd might be the causes affecting habitual abortions.     

正常人各年龄组染色体着丝粒点(Cd)研究

本文运用本室改良的Cd-NOR银染技术对80例4个年龄组的正常中国人的Cd变化进行了较系统的研究, 结果表明:(1)正常人随年龄增加,Cd消失的频率、Cd变异及Cd-NOR融合频率也相应增加,特别是Ⅲ、Ⅳ组(中、老年组)增加的频率尤为显著;(2)首次对Cd消失的过程提出了独特的观点,即Cd消失首先表现为Cd变小, 随着变小程度的加大,最终导致Cd消失;(3)在本研究中首次观察到单个Cd的现象,作者认为是细胞分裂中期染色体着丝一分为二的延迟现象。各年龄组间单Cd出现频率无统计学差异,同一年龄组中,2号染色体和1号染色体上单Cd出现频率显著高于理论值;(4)随年龄增高,Cd各项观察值的增高在男性与女性间未见明显的差异。 Abstract:The Cd variation of human chromosome in four groups of different age has been investigated.The result shows that the frequencies of Cd disappearing,size variation and Cd-NOR fusion increased with the age rising,especially in the group of aged people.We suggest that the variation of Cd shows the size changes first,and then disappears completely.We also observed some cells in which a few chromosomes shows only a single Cd in centromeric region.Cd variation in different age groups has no significant difference between the male and the female.     

不定胚再生植株的染色体数目变异

本实验以甜瓜“小麦瓜”和“青皮绿肉”品种为试材,经不定胚诱导再生植株。分别调查了不同继代培养时间后形成再生植株的染色体数目,并将之与对照染色体数目相比较,发现通过诱导不定胚所得到的再生植株中存在着一定的变异,而且经过不同继代培养时间后,所得到的不定胚再生植株的变异程度不同,随着时间的增加,染色体数目的变异率从3.3%增加到30%,变异幅度也从2n=23~24增加到2n=13~48。从而得出结论：不定胚再生植株染色体数目变异程度随着培养时间的增加而增加;培养时间在1~2个月内所得到的不定胚再生植株的变异较少。此外,不定胚再生植株的染色体数目变异程度也因品种而异。 Abstract:Chromosomal number of different of somatic embryos regenerated plants were investigated in melon variety “xiaomaigua” and “Qingpilurou”.Certain variations of chromosomal number were found among the regenerated plants compared with normal sample,and range of variation covered from 2n=23～24 to 2n=13～48 with the increase of generation,the rate from 3.3% to 30%.The results indicated that degree of variation in chromosomal number of somatic embryos regenerated melon plants increased with the time of culture,and those cultured in one to two months had the least variation.It was also found that degree of chromosomal number variations varied with melon varieties.     

正常人胚胎绒毛细胞染色体着丝粒点(Cd)变异的研究

我们采用Cd-NOR同步银染技术,首次对正常人胚胎绒毛细胞染色体着丝粒点(Cd)变异作了研究,并将绒毛细胞染色体Cd变异与正常人外周血淋巴细胞体染色Cd变异进行了对比。在本研究中,我们观察到某些染色体存在Cd迟滞复制现象,并对此作了讨论。 Abstract:Centromeric dots(Cd)variation of chorion tissue chromosomes were studied by a simultaneous silver staining of both NOR and Cd.Comparison analysis of Cd variation for the chorionic villus samples and peripheral blood samples were carried out.We observe an event of Cd delaying reproduction and discuss the relation between the event and X chromosome delaying reproduction as well as chromosomeal nondisjunction.     

NaCl胁迫对大麦细胞分裂及染色体行为的影响

NaCl溶液培养导致大麦幼苗根尖细胞有丝分裂指数下降,细胞姐妹染色单体交换(SCE)频率增高,且诱发包括染色体断片、后期染色体桥、不均等分裂及间期细胞微核等的染色体行为异常。细胞平均SCE频率及异常分裂细胞的比率与NaCl浓度和作用时间呈正相关。结果提示：NaCl浓度高或作用时间较长时对大麦细胞具有遗传学毒性。 Abstract：The effects of NaCl solution on chromosome behavior and sister chromatid exchanges(SCE)of barley were studied.Abnormal chromosome behavior including chromosome fragmentation,micronuclei,anaphase bridges and unequal split was found in root tip cells of Hordeum vulgare seedlings.Mitotic index decreased but SCE frequency increased significantly when barley incubated with NaCl solution.The effects of NaCl solution depended on its concentration and treatment duration.The higher the treated concentration was,the higher the ratio of chromosomal aberration was.The longer the treatment duration was,the higher the degree of the effects was.The results showed that NaCl solution was genotoxic when the concentration was higher and the treated time was longer.     

应用双色荧光原位杂交技术检测克氏综合征

探讨用双色荧光原位杂交技术（dual-color fluorescence in situ hybridization,D-FISH）检测性染色体数目异常克氏综合征的应用价值,建立常规分裂期染色体和间期细胞FISH技术的实验方法。以Biotin标记的X染色体α-卫星DNA（pBamX7）探针和以Digoxigenin标记的Y染色体长臂末端重复序列（pY3.4）探针对19例克氏综合征标本同时进行外周血染色体及其间期细胞核的原位杂交,分别用Avidin-FITC和Rhodamine-FITC及其Anti-avidin进行信号的检测与放大,DAPI复染。于Olympus AX-70型荧光显微镜下,分别通过WIB、WIG及其WU滤光镜观察杂交信号及其染色体或间期核背景,并统计外周血中期染色体及其间期细胞核的杂交信号颗粒数量。在显微镜下可见以Biotin标记的pBamX7探针显示2个绿色杂交信号,以Digoxigenin标记的pY3.4探针显示1个红色杂交信号,染色体或间期核背景经DAPI复染显示蓝色;18例出现XXY杂交信号的细胞,染色体及其间期细胞核杂交平均出现率分别为95.89%和95%,明显大于正常对照标准值2.75%,证实核型为47,XXY,与染色体检测的结果一致;其余1例染色体核型检测为嵌合体,XXY杂交信号细胞出现率为92%,同时检出6.7%的XY杂交信号细胞（>正常对照标准值4.17%）。用FISH 技术检测性染色体数目异常克氏综合征具有快速、敏感度高、信号强、背景低、多色等优点,故FISH 技术在产前诊断检测领域中显示其重要的应用价值和发展前景。 Abstract:The objective of the work is to study the technique of dual-color fluorescence in situ hybridization(D-FISH) and its application value in the diagnosis of sex chromosomal count abnormality Klinefelter syndrome and establish an experimental approach to metaphase chromosome and interphase nucleus FISH technique.Biotin labeled alpha satellite X-chromosome DNA(pBamX7) probe and Digoxigenin labeled Y-chromosome long arm terminal repetitive sequence (pY3.4) probe were hybridized with pre-treated slides of peripheral blood chromosome and interphase nucleus in 19 cases of Klinefelter syndrome specimens.After being washed,the slides were treated with Avidin-FITC,Rhodamine-FITC and Anti-avidin,amplified with an additional layer and counter-stained with DAPI in an antifade solution.The hybridization signals,chromosomal or interphase nucleus settings were observed respectively with WIB,WIG and WU filters under fluorescence microscope Olympus AX-70,and the number of metaphase chromosome and interphase nucleus in the peripheral blood was counted.It was observed under the microscope that the Biotin labeled pBamX7 probe showed 2 green hybridization signals and that the Digoxigenin labeled pY3.4 probe showed 1 red hybridization signal.Chromosome or interphase nucleus counter-stained with DAPI showed blue.The average signal rate of chromosome and interphase nucleus hybridization was 95.89% and 95% respectively,significantly higher than the normal control (2.75%).Karyotype 47,XXY was confirmed,which agrees with the chromosomal findings.One case showed mosaic nuclei.XXY chromosome hybridization signal rate was 92% and XY hybridization signal rate was 6.7%,higher than the normal control rate of 4.17%.FISH is a valuable technique in diagnosing sex chromosomal count abnormality Klinefelter syndrome with the merits of fast speed,high sensitivity,strong signal,low background and multiple color.Therefore,FISH technique can find wide application and potential in prenatal diagnosis.     

Association of SOST gene polymorphisms with peak bone mineral density in Chinese nuclear families with male-offspring

Peak bone mineral density(BMD)achieved during early adulthood is a highly heritable trait and a strong determinant of subsequent osteoporotic fracture risk.Evidence has already suggested that 50–80% of the variance in peak BMD is genetically determined [1].Human SOST gene comprises three exons and two introns,mapping to chromosomal region 17q12–q21.It inhibits osteoblastic bone formation by inhibiting the Wnt signaling pathway,which is critically important for the development and function of osteoblasts [2].Our previous study in large samples of postmenopausal Chinese women showed that the polymorphisms in the SOST gene are associated with BMD of the lumbar spine [3],but little is known in men.Thus,the objective of this study was to investigate whether polymorphisms in the SOST gene are associated with variations of peak BMD in Chinese nuclear families with male-offspring.     

Changes in Carboxypeptidase A,Dipeptidase and Na<Superscript>+</Superscript>/K<Superscript>+</Superscript> ATPase Activities in the Intestine of Rats Orally Exposed to Different Doses of Cadmium

The purpose of the present study was to evaluate the effect of cadmium on some protein digestive and absorption enzymes in rats. Thirty-six rats were grouped into three groups of 12 animals each; one group received deionised water and acted as control. One group received 445 μM Cd and the last group received 890 μM Cd in their drinking water for a period of one month. The results obtained indicate that increasing the level of cadmium from 445 μM to 890 μM in the drinking water of the rats led to 29 and 23 increase in accumulated cadmium in the proximal and distal small intestine respectively. The body weight gain of rats exposed to 445 μM and 890 μMCd was decreased by about 24 and 43 respectively when compared with the control. The activities of carboxypeptidase A, dipeptidase and Na+/K+ ATPase were reduced in the mucosa of the proximal end of the small intestine of cadmium exposed rats. The reduction was dose dependent; with the 890 μM Cd exposed rats displaying the least activities. In the distal small intestine, the activities of these enzymes were restored in the 445 μM Cd exposed rats to levels that were not statistically different (P>0.05) from those observed in the controls. In the 890 μMCd exposed rats, dipeptidase activity improved by about 80 compared with the activity of the enzyme in the proximal small intestine. Likewise, Na+/K+ ATPase activity increased by about 125 compared with the observed level in the proximal small intestine. The study suggests that cadmium given to rats in drinking water compromise protein digestion and absorption of nutrients particularly in the proximal region of small intestine and could account for weight reduction associated with cadmium toxicity. Published online December 2004     

河南地区新生儿染色体畸变的流行病学调查

为了解河南地区群体染色体畸变发病率情况,研究可能与染色体畸变有关的 因素及再现风险。综合运用多种现代细胞遗传学技术对3068例新生儿进行染色体核型分析,并对染色体核型异常者进行家系分析、再现风险及病例对照研究。结果表明:河南地区新生儿染色体畸变发生率为2.74%;其中13.1%由亲代遗传,86.9%为子代新生突变;病例组84例中有46例再次生育,再现染色体畸变8例,染色体畸变再发生率为17.39%;孕妇高龄、异常妊娠史、妊娠期间致畸因素接触史及胎儿宫内发育迟缓等可能是新生儿染色体畸变的高危因素。 Abstract:To investigate the incidence of chromosomal aberrations and recurrence risk in Henan and inqure into the risk factors resulting in newborn chromosomal aberrations,3 068 newbors were karyotyped with several advanced cytogenetic methods.The result showed the incidence of chromosomal aberrations was 2.74%(84cases),only 13.1% out of 84 aberrations were transmitted from the previous generation and 86.9% arose de novo.Within 46 second babies being born after their sibling with chromosomal aberrations,8 were abnormal karyotypes,the recurrence rate was 17.39%.The case-control study showed mothers with advanced age,mothers exposure to detrimental factors in pregancy and mothers with abnormal reproductive histories,intranter growth retardation may be the risk factors resulting in chromosomal aberrations.