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.     

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.     

正常人染色体Cd结构的研究

本文采用Cd-NOR同步银染技术,对23例正常人染色体Cd结构变异、Cd结构消失、小Cd结构以及“Cd-NOR融合”作了分析。结果发现：(1)具有小Cd结构的染色体常涉及D, G组染色体;(2)Cd结构变异最常发生于1号和16号染色体上;(3)G组染色体上"Cd-NOR融合”频率显著高于其理论值;（4）正常人细胞中存在一定频率的Cd结构消失现象。本文还对人类近端着丝粒染色体易于不分离的原因作了初步讨论,并对此提出了新的解释。     

Mayor histocompatibility complex class Ⅱ (HLA-DR) is associated with morphea and systemic sclerosis patients

Morphea is a disorder limited to the skin, characterized by a stable oval plaque with a glossy plane surface that feels indurated on palpation. In contrast, systemic sclerosis is additionally characterized by disseminate cutaneous engrossment, sclerodactyly, the presence of Raynaud''s phenomenon, and internal organ involvement. Human leukocyte antigen (HLA)-DR4 class Ⅱ alleles are associated with morphea in Caucasians, whereas, HLA-DR4 presents as high frequency in Amerindians, besides it was associated with autoimmune disease. The aim of this study was to determine HLA-DR alleles in Mexican patients with morphea. This study recruited 24 morphea patients, whose HLA alleles frequencies were compared with HLA alleles frequencies presented in 22 systemic sclerosis patients and 99 ethnically matched healthy controls. The HLA-DRβ1 locus was genotyped based on the hybridization technique. HLA-DR4 and DR8 frequencies showed increases in morphea patients compared with healthy controls, whereas HLA-DR4 exhibited a statistical association with morphea when allele frequencies were compared with systemic sclerosis patients. Thus, HLA-DRβ1 associations varied in morphea and systemic sclerosis, suggesting the participation of different immunological molecular mechanisms.     

HLA class Ⅱ alleles in human sporotrichosis in Mexican Amerindians

Human leukocyte antigen (HLA) class Ⅱ alleles are involved in antigen processing and presentation to T lymphocytes during fungal infections. However, few studies have investigated HLA genes in fungal diseases, or in sporotrichosis infections. Here, the frequencies of HLA-DRβ1 in 50 healthy volunteers and 9 patients with sporotrichosis from an endemic area in Mexico were determined to define their role in genetic susceptibility to this infection. Also, the frequencies of HLA-DRβ1 haplotypes were compared with a historic control group of healthy Mexican individuals. The patients presented that DR4 and DR8 increased, which were more than twice the control''s values, whereas local controls (endemic area) presented DR*04:01 increased, compared with the control group from Mexico City. The data suggest that involvement of HLA antigens could affect the outcomes of the host-fungi interaction in sporotrichosis by regulating the immune response to Sporothrix schenckii complex.     

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染色体着丝粒-动粒复合体(centromerekinetochorecomplex,CKC)变异与不良孕产的相关性,探索不良孕产中非整倍体形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,两者相比有显著性差异(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。 Abstract:To search the cytogenctic mechanism of adverse pregnancy,a study was carried out on 110 couples,57 of them with unexplained adverse pregnancy and 57 served as a control.A technique for the simultaneous staining of both nucleolar organizer regions and kinetochores of human chromosomes with silver was used.The results showed that the variations of chromosomal centromere kinetochore complex (CKC) in couples with adverse pregnancy were significantly high than of the control.The variations of CKC may be the main reason for the chromosomal nondisjunction during meiosis that is attributed to the adverse pregnancy.     

载脂蛋白E基因多态性与动脉粥样硬化性脑梗塞关系的研究

应用聚合酶链反应(PCR)扩增ApoE基因外显子4中编码112位和158位氨基酸的 DNA片段,将该长为292bp的PCR产物以HhaI酶切,根据其限制性片段长度多态性图谱确定ApoE基因型。对广东汉族人群的50例动脉粥样硬化脑梗塞(ACI)患者和50例健康对照者的ApoE基因多态性频率的研究结果表明:所研究的人群中,ApoE基因多态性频率与ACI没有关联。ACI患者中各基因型亚组之间血清TG和TC浓度无显著性差异。 Abstract:The polymerase chain reaction(PCR)and restriction fragment length polymorphism techniques(RFLPs)were used to study the relation between apolipoprotein E gene polymorphism and atherosclerotic cerebral infarction(ACI).A 292 bp DNA fragment containing codes for the 112 and 158 amino acid residues in the fourth exon of ApoE gene was amplified by PCR.The PCR products were digested with HhaI.The polymorphism patterns of Apo E gene,allele frequencies in 50 Chinese healthy and 50 patients with ACI,and the serum levels of TG and TC in the different subgenotypes of 50 patients with ACI were detected.,no statistical significant differences of alleles frequencies were found between the cases with ACI and the control,and no statistical significant differences of the serum levels of TG and TC were found among the different subgenotypes of 50 patients with ACI.These results suggested that ApoE gene polymorphism was not associated with the development of ACI.     

Correlation between haplotype of apolipoprotein B gene and natural longevity persons in Uygur Nationality

This paper investigated the correlation between polymorphisms and haplotypes in the apolipoprotein B (apoB) gene (SP-I/D, XbaI-RFLP, VNTR) and natural longevity persons among the Uygur people in Xin-jiang. For this purpose, 191 healthy Uygur individuals aged above 90 from Hetian area of Xinjiang were recruited, and another 53 persons aged 65—70 from the same nationality, the same region and with the same gender ratio, served as the control group. Genotyping was performed by PCR-SSP, PCR-RFLP and PCR-sequencing methods. Logistic regression analyses revealed that the frequencies of X X genotype, M and L alleles and the genetypes composed of M and L were significantly higher in the longevity group than in the control group. In haplotype analyses, we found that, in the long-lived people, the frequency of haplotypes composed of the X and M alleles was significantly higher whereas the frequency of haplotypes composed of the X- and S alleles was significantly lower (both P<0.05) I than those of their controls. These results indicated that the S allele, SS genotype and X -S, D-S, D-X -S haplotypes were the possible adverse factors, whereas the M, L alleles, X X , MM, ML, LL genotypes and I-X -M, X -M haplotypes were the possibe protective factors for the naturally long-lived Uygur people in China.     

石油作业习惯性流产女性细胞遗传毒性研究

目的：研究石油作业环境对女性习惯性流产的遗传毒性。方法：随机选择习惯性流产的石油作业女性38人和正常的育龄女性20人,检测其外周血淋巴细胞姐妹染色单体互换,记数SCE发生率。结果：观察组的外周血淋巴细胞SCE发生率为8．81＋0．35,明显高于对照组（P〈0．05）。结论：SCE的发生可作为石油作业习惯性流产女性染色体结构稳定性的检测指标。石油作业环境对女性生育具有遗传毒性。     

Traitement des menaces d'avortement et des avortements habituels par la médroxyprogestérone

A clinical study was made of an oral form of medroxyprogesterone in a group of pregnant patients with signs of a threatened abortion or with a history of habitual abortions, under conditions very similar to those obtaining in general practice. The aim was to assess the agent''s effectiveness, its harmlessness, and its effect on the pregnancy in respect of both the mother and the infant.During a 31-month period, 43 pregnant women were administered this drug. The overall result in terms of live and healthy babies was 70%. This result was somewhat lower than that expected on the basis of previous studies; both public and private patients were included and no selection of patients was attempted. There were no apparent harmful side effects to mother or infant or evidence of virilization of female infants; postmaturity was not a problem.     

石油作业习惯性流产女性细胞遗传毒性研究

目的:研究石油作业环境对女性习惯性流产的遗传毒性。方法:随机选择习惯性流产的石油作业女性38人和正常的育龄女性20人,检测其外周血淋巴细胞姐妹染色单体互换,记数SCE发生率。结果:观察组的外周血淋巴细胞SCE发生率为8.81±0.35,明显高于对照组(P0.05)。结论:SCE的发生可作为石油作业习惯性流产女性染色体结构稳定性的检测指标。石油作业环境对女性生育具有遗传毒性。     

Effects of legal termination on subsequent pregnancy.

Two hundred and eleven patients who had undergone vaginal termination and were pregnant again were investigated; 43-2% had become pregnant within one year of termination. The overall fetal loss in the 211 patients was 17-5% compared with 7-5% in a group matched for parity but consisting of patients who were pregnant after a spontaneous abortion. Altogether 4-3% of pregnancies after legal abortion ended as first trimester abortions, 8-5% as second trimester abortions, and 13-7% in premature delivery. Among 11 women whose cervices had been lacerated at the time of legal termination the fetal loss in subsequent pregnancy was 45-5%, and only one pregnancy went beyond 36 weeks. Routine Shirodkar suture may be beneficial when the cervix is known to have been damaged at legal abortion. Several patients had asked that their general practitioner should not be told of their termination, and such patients may not admit their termination during a subsequent pregnancy, which could thus be jeopardised. No evidence was found to suggest that infants of patients with a history of legal termination are small for dates.     

BGC823和A549细胞染色体着丝粒点变异

癌细胞的一个显著细胞遗传学特征是染色体非整倍性畸变,但其畸变的机制至今仍然不清。因此,本文从与染色体分离直接相关的着丝粒点变异的角度,采用Cd-NOR同步银染技术对BGC823细胞和A549细胞染色体Cd变异进行了分析,以探索癌细胞非整倍性畸变的发生机制。结果表明：（1）BGC823细胞染色体Cd缺失率为1.75%、迟滞复制率为0.28%、小Cd率为1.82%、Cd-NOR融合率为0.95%,与正常人胚胎绒毛细胞染色体Cd相比较,BGC823细胞染色体Cd缺失和Cd-NOR融合显著升高（P＜0.0125）,而Cd迟滞复制和小Cd两者没有显著性差异。（2）A549细胞染色体Cd缺失率为2.73%、迟滞复制率为0.94%、小Cd率为1.73%、Cd-NOR融合率为0.71%,与正常人胚胎绒毛细胞染色体Cd相比较,A549细胞染色体Cd缺失和Cd迟滞复制显著升高（P＜0.0125）,而小Cd和Cd-NOR融合两者没有显著性差异。提示BGC823细胞染色体非整倍性畸变可能主要源于Cd缺失和Cd-NOR融合,而A549细胞染色体非整倍性畸变可能主要源于Cd缺失和Cd迟滞复制。     

Prostaglandin-induced Abortion: Assessment of Operative Complications and Early Morbidity

A total of 626 patients undergoing a prostaglandin-induced abortion, the majority in the second trimester, have been analysed for complications occurring during inpatient treatment. Of the last 155 consecutive patients 143 were critically assessed six to eight weeks after abortion for morbidity occurring during their early recovery period.Blood loss of 250 ml or more occurred in 68 patients, pyrexia in 34, pelvic infection in three, and readmission in 14 of the 626 patients studied, and a transfusion was required in eight.Bleeding after abortion stopped within six weeks in all 143 of the 155 consecutive patients assessed but three required readmission for uterine curettage. Menstruation was re-established within six weeks of abortion in 106 patients.The incidence of operative morbidity was similar to that reported for first trimester abortion and better than that in most reported series of second trimester abortions.     

Attitudes towards abortion in the Danish population

This article reports the results of a survey, by mailed questionnaire, of the attitudes among a sample of the Danish population towards abortion for social and genetic reasons. Of 1080 questionnaires sent to a random sample of persons between 18 and 45 years, 731 (68%) were completed and returned.
A great majority of the respondents were liberal towards early abortion both for social reasons and in case of minor disease. In contrast, there was controversy about late abortions for social reasons and in the case of Down syndrome. Further there was strong reluctance to accept late abortion in case of minor disease.
An analysis of the response patterns showed that most of the respondents had gradualist views on abortion, i.e. they would allow all early abortions, but only abortions for some reasons later in pregnancy. It was also found that the number who would find an early abortion acceptable in general was much higher than the number who would accept it in their own case. These findings suggest that a great part of the resistance towards abortion does not rest on a concern for the rights and interests for the fetus. Instead it may be explained on a view according to which fetal life is ascribed intrinsic moral value.     

Recurrent spontaneous abortion and polycystic ovarian disease: comparison of two regimens to induce ovulation.

OBJECTIVE--To determine whether pituitary suppression before induction of ovulation reduces the rate of spontaneous abortion in women with polycystic ovarian disease and primary recurrent spontaneous abortions. DESIGN--Closed, randomised, sequential trial. Pairs of women were allocated to each treatment by the toss of a coin. SETTING--Supraregional clinic for women who had had recurrent spontaneous abortions. SUBJECTS--Forty two women with polycystic ovarian disease and primary recurrent spontaneous abortions. INTERVENTIONS--Ovulation was induced by clomiphene or pituitary suppression with buserelin followed by pure follicle stimulating hormone. MAIN OUTCOME MEASURES--Preference for a particular treatment was noted. A preference occurred when one woman in a pair had a successful pregnancy (defined as one of over 12 weeks'' gestation) and one had a spontaneous abortion; the preference was for the treatment resulting in the successful pregnancy. RESULTS--Spontaneous abortions occurred in 11 of 20 women given clomiphene compared with two of 20 who had pituitary suppression. Eleven preferences were found for buserelin and two for clomiphene. In seven pairs both women had successful pregnancies. One pair was discarded because one of the women did not become pregnant. The ratio of luteinising hormone concentration to follicular diameter was found to be a possible diagnostic indicator of spontaneous abortion. CONCLUSION--Pituitary suppression before induction of ovulation significantly reduces the risk of spontaneous abortion in women with polycystic ovarian disease and primary recurrent spontaneous abortions.     

Why do plants abort so many developing seeds: bad offspring or bad maternal genotypes?

It has been suggested that abortion of ovules in perennials is caused partly by early acting genetic load (abortions due to ‘bad offspring’). However, it is still unclear what proportion of abortions of naturally pollinated seeds are due to early genetic load. Here we suggest that variation between maternal genotypes (abortions due to ‘bad maternal genotypes’) may be an even more important factor causing genetic abortions than early load, based on results from Scots pine. The early load is severe in Scots pine: in experimental self-pollinations on average 76% of the seeds were aborted. Comparison of naturally pollinated and experimentally cross-pollinated seeds showed that the abortion rate of naturally pollinated seeds was only slightly, and not statistically significantly, higher than that of experimentally cross-pollinated seeds (30% vs. 26.5%, respectively). Thus, although early load can be high under self-pollination in Scots pine, it does not account for a high share of abortions of naturally pollinated seeds. Instead, maternal genotype determined the seed abortion rate: in a separate experiment using an experimental population (clonal stand), 29% of the total variance in seed abortion was due to variation between maternal genotypes. We studied further whether ‘bad maternal genotypes’ could be explained by trade-offs between seed abortion and other fitness functions. Only one statistically significant genetic correlation was found, a positive association between cone production and successful seed development. Thus ‘bad maternal genotypes’ aborted a higher proportion of their seed and produced less cones than the ‘good maternal genotypes’. This revised version was published online in July 2006 with corrections to the Cover Date.