湛江地区131例性染色体异常核型分析

对本室１９８年９月至１９９８年７月检出的性染色体异常核型进行分析，计有３５种异常共１３１例。其中Ｋｌｉｎｅｆｅｌｔｅｒ综合征７种核型４１例（３１３０％），Ｔｕｒｎｅｒ综合征８种核型４０例（３０５３％），超Ｘ综合征４种核型６例（４５８％），超Ｙ综合征２种核型３例（２２９％），Ｘ染色体缺失２种核型２例（１５３％），Ｘ染色体与常染色体易位２种核型２例（１５３％），Ｙ染色体缺失３种核型４例（３０５％），性反转和两性畸形３种核型９例（６８７％），Ｙ染色体异态３种类型２４例（１８３２％）。分析了异常核型与表型的关系。     

15例体细胞染色体正常的反复流产夫妇丈夫精子染色体分析

为了解体细胞染色体正常的反复流产夫妇丈夫精子染色体改变，作者利用去透明带金黄地鼠卵诱导人精子单倍染色体形成的方法对１５例反复流产夫妇丈夫精子染色体进行分析。共分析１５１２组单倍体核型，其中畸变核型发现９５组，结构异常５４组，数目异常４１组，畸变率为６．２８％。卡方检验：与１５例正常生育男性组的自然畸变率比较，Ｘ２＝４．３８，Ｐ＜０．０５，表明两组间有统计学差异。在分类比较中，对照组与流产组的数目异常的Ｘ２＝７．４９，Ｐ＜０．０１，有显著性差异；而结构异常的Ｘ２＝０．０４，Ｐ＞０．０５．无统计学差异。精子染色体检查在流产病因诊断中具有一定的临床使用价值，为诊断流产病因提供了一种新方法。     

常染色体异常与无精子症的关系（附2例世界首报核型）

应用外周血染色体常规制片方法对睾丸无明显损伤史的２４例无精子症患者进行染色体分析发现：常染色体异常８例占３３．３％,其中常染色相互易位５例,占２０．８％,２例为世界首报异常核型,「４６,ＸＹ,ｔ（１１;１３）（Ｐ１０;ｑ１０）;４６,ＸＹ,ｔ（１;２）（ｐ２２;ｐ２３）」。性染色体异常５例,点２０．８％,正常核型１１例,占４５．８％。     

新疆塔什库尔干地区高原新生儿染色体畸变观察

目的：了解高原低氧分压对新生儿染色体畸变的影响。方法：收集新生儿脐带血（高原１６例,对照组５０例）常规培养、制片、Ｇ式显带、计数观察。结果：（１）高原组１６例新生儿中,染色体结构发生改变１０例,占６２５％,明显高于对照组１６０％（８／５０）（Ｐ＜０．０１）。（２）高原组新生儿染色体计数观察１５９４个,发生畸变８３个,占５２０７％;对照组共计数观察５００２个,发生畸变９４个,占１８７９％,两组比较有极高度显著性差异（Ｐ＜０．０１）。（３）高原组新生儿染色体结构异常占２１３３％（３４／１５９４）,其中内复制６个,双微体１４个,碎片断１０个,着丝粒爆开１个,断裂或增加３个,明显高于对照组０４２％（２１／５００２）（Ｐ＜０．０１）。（４）高原新生儿染色体数目异常占３０７％（４９／１５９４）,明显高于对照组１４５９％（７３／５００２）（Ｐ＜０．０１）。结论：高原新生儿染色体畸变率增加可能与高原低氧分压有关。     

不良生育和反复流产夫妇淋巴细胞染色体研究

本文对２０例不良生育和４１０例反复流产夫妇进行染色体检查，分别发现染色体异常１２例和１９例，异常发生率为５４５％和４６３％，均较普通人群的异常发生率０８％显著性增高，因此对不良生育和反复流产夫妇进行染色体检查具有非常重要的临床意义。     

无锡地区200对自然流产夫妇的细胞遗传学研究

本文对２００例有自然流产史的夫妇通过遗传咨询，进行显带染色体研究，特殊的进行了Ｃ带及性染色质检查，发现２８例染色体异常，占７％，其中常染色体平衡易位２３例占５．７５％，罗伯逊易位１０例占２．５％，易位核型涉及１、２、４、５、６、７、８、９、１３、１４、１２、１５、１６、１７、２１、２２号染色体，其他异常５例。流产一次者异常核型３例，流产二次者１２例，三次者８例，四次者２例，五次者３例     

2700例遗传咨询者外周血染色体分析

本文对２７００例遗传咨询者外周血淋巴细胞作Ｇ显带染色分析，发现异常核型１９１例，占７．０７％，其中数目异常１０２例，占５３．４％，结构异常５７例，占２９．８％，嵌合体３２例，占１６．８％。在结构异常中有７例经鉴定为世界首报核型。染色体检查指征中以流产史者占首位（２８．１％），其后依次为生育畸胎史者及畸形患者（１１．９％），生殖器畸形及发育异常（１０．９％），闭经（１０．４％），智力低下（８．９％），死胎或新生儿死亡史（５．２％），不孕症（４．４％），以及其它指征者（２０．２％）。     

42例骨髓增生异常综合征细胞遗传学研究

本研究对４２例骨髓增生异常综合征（ＭＤＳ）进行研究,采用骨髓细胞短期培养法,共１３例ＭＤＳ检出染色体异常核型,占３１％,ＭＤＳ－ＲＡＥＢ和ＲＡＥＢＴ（４１％）比ＭＤＳ－ＲＡ（２９％）异常核型检出率高（Ｐ＜０．０５）,检出７种类型染色体异常核型,染色体数量异常８例,以三体８多见,染色体结构异常５例,均为平衡易位。ＭＤＳ－ＲＡ异常核型均为数量异常,ＭＤＳ－ＲＡＥＢ、ＲＡＥＢＴ则以结构异常为主。观察中发现２例具有核型异常的ＭＤＳ－ＲＡＥＢ转化为ＡＮＬＬ－Ｍ２和ＡＮＬＬ－Ｍ５,表明ＭＤＳ染色体核型与ＭＤＳ亚型、转归和预后密切相关。     

线粒体DNA与人精子活力间的相关性分析

目的 探讨线粒体ＤＮＡ与人精子活力间的关系。方法 用长链ＰＣＲ技术,对６０例精子活力正常和４０例精子活力异常不育患者的精子线粒体ＤＮＡ（ｍｔＤＮＡ）进行了多重缺失的分析。结果 两组不育患者中共有８例具有ｍｔＤＮＡ的多重缺失（其中精子活力正常不育患者６名,精子活力异常不育患者２名）,但缺失型ｍｔＤＮＡ（Ｓ５除外）在总ｍｔＤＮＡ中所占比例很小（０．１６％～１．８５％）,１例精子活力正常的不育患者（Ｓ５     

男性不育患者的细胞遗传学分析

目的对男性不育患者进行染色体核型的检测,以指导其生育。方法1．应用规范的WHO精液检查方法检查男性不育患者精液标本。2．应用细胞遗传学检测男性不育患者外周血染色体核型分析。结果1．精液检查结果：男性不育组患者356例,包括无精子症82例、严重少精子症126例、少弱精子症148例,精液正常、核型正常男性组对照50例。2．细胞染色体检查：356例男性不育患者全部进行外周血淋巴细胞染色体核型分析,发现55例染色体核型异常,包括性染色体异常24例,常染色体异常21例和染色体多态性10例。其中,无精子症组的染色体异常率25．61％（21／81）,严重少精子症患者染色体核型异常率为11．90％（15／126）,少弱精子症患者染色体核型异常率为12．84％（19／148）。结论男性不育患者核型异常率为15．45％,远高于正常人群发病率。细胞遗传学染色体检查对男性不育的生育指导有重要意义。无精子症患者进行染色体检查尤其必要。     

No increased histocompatibility antigen-sharing in couples with idiopathic habitual abortions

Sharing of major histocompatibility antigens between spouseshas been claimed to play an aetiological role in couples withunexplained, habitual spontaneous abortions. On the otehr handthere is evidence that a subset of habitually aborting womeexists, in whom autoimmune aberrations seem to be of importance.In the present study, 56 couples with unexplained habitual abortionswere histocompatibility typed for HLA-A, -B and -DR specificities,as were a group of 33 fertile control couples with two or morechildren and no spontaneous abortions The DR-typing was donepartly by use of the restriction fragment length polymorphism(RFLP). There was no significant difference in the distributionof histocompatibility antigens between the habitually abortingwomen and the control women. No increased HLA-antigen sharingcould be demonstrated between spouses in aborting couples comparedwith controls, neither in each single locus nor in the combinationof all loci (all P-values>0.2). Neither could any increasedHLA-antigen sharing in sub-groups of aborting couples with andwithout autoimmunity be demonstrated. It can be concluded fromthese data that compatibility between spouses for HLA-A, -Band DR-antigens per se only plays a minor role in the aetiologyof habitual abortion     

Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes.

During the years 1975-1987, 1,364 cytogenetic studies were performed in 682 couples with history of adverse pregnancy outcome. Thirty-six balanced translocations were detected, 24 (3.5%) in women and 12 (1.7%) in men. Before 1982, all 234 couples studied had 2 or more spontaneous abortions with unknown pedigrees, with an incidence of 6.8% of balanced translocations. During 1982-1987, complete pedigree analysis was performed on a subset of 448 couples, who were then classified into 3 groups. Group I; 321 couples with 2 or more spontaneous abortions, but no other adverse outcome; group II; 37 couples with at least one or more spontaneous abortions plus a malformed child or stillbirth; and group III; 90 couples with one or more spontaneous abortions plus a sib having at least a malformed child or repetitive spontaneous abortions. The incidence of balanced translocations in these 3 groups was 2.8%, 5.4%, and 10.0%, respectively. When group III was compared with group I, the frequency of translocations was significantly different (P less than 0.02). Robertsonian translocations were predominantly detected in women, raising the possibility that prezygotic failure producing primary sterility may occur in men with such translocations.     

Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes

During the years 1975–1987, 1,364 cytogenetic studies were performed in 682 couples with history of adverse pregnancy outcome. Thirty-six balanced translocations were detected, 24 (3.5%) in women and 12 (1.7%) in men. Before 1982, all 234 couples studied had 2 or more spontaneous abortions with unknown pedigrees, with an incidence of 6.8% of balanced translocations. During 1982–1987, complete pedigree analysis was performed on a subset of 448 couples, who were then classified into 3 groups. Group I; 321 couples with 2 or more spontaneous abortions, but no other adverse outcome; group II; 37 couples with at least one or more spontaneous abortions plus a malformed child or stillbirth; and group III; 90 couples with one or more spontaneous abortions plus a sib having at least a malformed child or repetitive spontaneous abortions. The incidence of balanced translocations in these 3 groups was 2.8%, 5.4%, and 10.0%, respectively. When group III was compared with group I, the frequency of translocations was significantly different (P < 0.02). Robertsonian translocations were predominantly detected in women, raising the possibility that prezygotic failure producing primary sterility may occur in men with such translocations.     

HLA-DR locus and maternal-foetal relation

Antigen HLA-A, B sharing couples have been previously observed in abnormal pregnancies of unknown etiology. We have determined the HLA-A, B, C and DR antigens of 20 couples with recurrent spontaneous abortions (RSAs), 32 control couples and 100 normal controls. The results showed that in couples with more than two idiopathic repeated abortions, there is no significant increase in the HLA antigen sharing couples. But we were able to observe, in the affected couples, a significant increase in HLA-DR antigen sharing as regards the control couples. We also find a significant increase in the DR5 antigen, in both wives and husbands, in couples with repeated abortions of unknown etiology as previously described for the Dw5 antigen.     

Variations of the Amnionless gene in recurrent spontaneous abortions

Recurrent spontaneous abortions (RSA) are estimated to affect 0.5-1% of couples trying to have a child. The causes of RSA are unknown in the majority of cases. This study aimed to determine whether homozygous mutations in the AMN gene in a fetus cause spontaneous abortions in humans, as they are known to cause spontaneous abortions in mice. The study was conducted by screening 40 couples and 5 women with three or more unexplained spontaneous abortions for heterozygous mutations in the AMN gene using denaturing high-performance liquid chromatography. Altogether, 3 exonic and 11 intronic sequence variations were found. There were no significant differences in the frequencies of the variations between the patients and a control group. One of the exonic variations was non-synonymous, and three of the variations may affect gene splicing. None of the putative phenotype-affecting variations were found in both partners in any couple. These results indicate that RSA in the couples studied cannot be explained by homozygous AMN mutations in the fetus. However, two couples had different, potentially deleterious variations in both partners. If these variations have a phenotypic effect, the RSA experienced by these couples may be caused by mutations in the AMN gene. In addition, birthplaces of the patients' ancestors revealed some clustering, suggesting that some patients may carry a founder mutation in another gene which may contribute to RSA.     

徐州地区57对复发性流产夫妇的染色体核型分析

目的探讨复发性自然流产与外周血染色体异常核型之间的关系。方法采用外周血淋巴细胞培养,常规G显带技术行染色体核型检查,后结合临床资料对其进行分析。结果57对复发性自然流产夫妇中,检出异常染色体核型20例,检出率17.54%。结论染色体核型异常是导致复发性自然流产的重要原因之一,对复发性流产患者进行染色体检查及遗传咨询具有一定的临床意义。     

Epidemiology of recurrent spontaneous abortion.

With recent scientific advances leading to better understanding of the immunobiology of recurrent spontaneous abortion (RSA), interest has now focused upon the epidemiology of RSA. A cohort of 214 couples with a history of two or more consecutive abortions were studied for the prevalence of etiologic factors and association with other reproductive failures. The prevalence of causes of RSA in this cohort was compared with etiologic factors among 179 couples with a history of three or more consecutive abortions. The obstetrical histories of 214 women with RSA were analyzed for the total number of pregnancies, live births, stillbirths, spontaneous abortions, ectopic pregnancies, and hydatidiform moles. These numbers were compared with the expected frequency of each in the general population. The prevalence of etiologies among 214 with RSA were as follows: chromosomal-6%, anatomic-1%, hormonal-5%, immunologic-65%, and unexplained-23%. No differences in the prevalence of etiologic factors exist when couples with a history of two or more abortions are compared with three or more abortions. When the number of ectopic pregnancies, molar pregnancies, and stillbirths among 214 women with RSA were compared with the expected numbers, the odds ratios were 2.2 for ectopic pregnancies, 6.0 for molar pregnancies, and 2.3 for stillbirths. These data indicate that no difference in the prevalence of etiologies of RSA exist when couples with two or more abortions are compared with three or more and a comorbidity between RSA and other types of reproductive failure exists.     

HLA antigen-sharing in couples with repeated spontaneous abortions and the birthweight of babies in successful pregnancies

Previously, several groups reported an increase in HLA antigen-sharing in couples suffering from unexplained repeated spontaneous abortions. It was felt necessary to find out if HLA sharing could have any effect on children born after a successful pregnancy. The birthweight figures of children of 76 couples with repeated spontaneous abortions were analyzed. The results show a significantly lower birthweight in babies born from those couples, presenting a high incidence of HLA antigen-sharing, particularly concerning class II antigens.     

HLA-A2 class I antigens in couples with recurrent spontaneous abortions

Class I human leukocyte antigen (HLA) antigens, locus A and B, were typed in fertile and infertile couples in cases where one of the spouses carried the HLA-A2 antigen. HLA-class I typing data were obtained from 282 participants, 63 fertile couples and 78 infertile couples with recurrent spontaneous abortions (RSA). Locus A antigens were grouped into eight broad specificities (A1, A2, A3, A9, A10, A11, A19, A28) and locus B antigens were grouped, according to HLA epitopes, in two classes (BW4 and BW6). Although the number of cases is small, significant differences in the distribution of locus A antigens were found between HLA-A2-positive (A2+) women from fertile and infertile couples. HLA-A3, A11 and A28 cross-reacting antigens were absent in women from fertile couples and present in women from infertile couples. HLA-A19, which is associated with amino acid triplets of low immunogenicity, was significantly more often observed in A2+ fertile than in infertile women. An excess of the BW4 epitope was found in A2(-) husbands from infertile couples compared to fertile ones. The results of this study support the idea that in the presence of the HLA-A2 molecule the distribution of HLA-A and B loci antigens may be different in fertile couples compared to couples with recurrent spontaneous abortions. It can be suggested that the HLA-A2 molecule, in context with specific genotypes, may contribute to the overall maternal immune response in normal and disturbed pregnancy.     

Predictive Factors in Recurrent Spontaneous Aborters—A Multicenter Study

PROBLEM : Compare data from several centers relating to success rates in recurrent spontaneous miscarriage and assess the significance of indicators of subsequent pregnancy loss. METHOD : Data from 777 couples with unexplained recurrent spontaneous abortion from independent studies at seven centers were analyzed using logistic regression analysis. The following covariates were considered: age of patient, number of previous spontaneous abortions, length of previous abortions history, sub-fertility index (defined as the product of the number of spontaneous abortions and the abortion history), whether a patient was a primary or secondary aborter, and whether a patient had received leukocyte immunotherapy. RESULTS : There was a highly significant difference between the seven centers in success rates in the subsequent pregnancy and a highly significant association between success rate and each of the following covariates: the number of previous abortions, the length of the previous abortion history and the sub-fertility index. In particular, for each increase of 10 units in the value of the sub-fertility index, up to a value of 30, the odds in favor of a successful pregnancy decreased by a factor of 0.6, i.e., 40%. There was, however, little evidence of an association between the success rate in the subsequent pregnancy and age, parity, or immunization with cells from the husband. CONCLUSIONS : The sub-fertility index may be a useful measure of likelihood of success in a subsequent pregnancy.