染色体平衡易位与异常儿生育史

染色体平衡易位与异常儿生育史

贺春靳耀英乔付(中日友好医院临床医学研究所遗传与代谢疾病室,北京,100029)

摘要:目的通过对263对有异常儿生育史、自然流产史和胎停育的夫妇进行外周血淋巴细胞染色体检查,探讨染色体平衡易位与异常儿生育史的关系。方法每人采静脉血2ml,用RPM I1640培养液,微量全血培养37e72h,常规收获细胞,气干法制片,GT G法显带。显微镜下计数分析20~30个中期分裂相,显微摄影分析3~5个染色体核型。结果发现5对夫妇有染色体异常,染色体异常发生率为119%(5/263)。其中平衡易位4例,倒位1例。结论染色体平衡易位是造成流产和生育畸形儿的重要遗传因素。临床上对原因不明而有异常儿生育史或有3次以上自然流产史的夫妇,均应做染色体检查。对平衡易位携带者再次妊娠时必须做产前诊断,以防止染色体异常患儿的出生。

关键词:染色体;平衡易位;携带者

中图分类号:R714121文献标识码:A文章编号:1006-9534(2003)04-0063-03

Balanced translocation of chromosome and obstetrical history on abnormal infants.H e Chun,Jin Yaoying,Qiao Fu.(Dep ar t-ment of Genetics,China-J ap an Fr iendship I nstitute of Clinical M edical Sciences,100029)

Abstract:Objective:T o probe into the r elatio nship between balanced tr anslocation of chr omosome and obstetr ical histor y on ab-normal infants,by means o f examining t he chromosomes of peripheral blood lymphocyt es for263mar ried couples with obstetrical his-tory on abnormal infants,habitual abort ion or developmental arrest of fetus.M et hods:2ml venous blood w as sampled for each pa-tient.T he cells in w hole blood were cultured with RPM I-1640culture fluid fo r72hours in37e.T he cells were collected routinely and dried by air.T he bands were displayed by means of G T G.20~30metaphase division phase were counted and analysed with lig ht microscope.3~5karyo types of chromosome were microphotoed.R esults:5married couples were discovered to hav e chromosome ab-normalities including balanced tr anslocation4case,inv ersion1case.T he incidence rate of chromosome abnormality was119%.Con-clusion:T he balanced tr anslocation of chromosome is the important factor caused abortion and malformation infants fer tilized.T he chromosome i s examined clinically for the married couples w ith obstetr ical history on abnormal infants and more than3times abor-tio n,the prenatal diagnosis must be conducted for the married couples with balanced tr anslocation car rier o f chromosome in regravidity to avo id fertilizing the infants w ith chromosome abnor mality.

Key words:Chromosomes;Balanced tr anslocation;Car rier;

我室自1989年1月~2000年12月对来我院就诊的263对有异常儿生育史、自然流产、胎停育的夫妇做了染色体检查,发现5对夫妇有染色体异常,染色体异常发生率为119% (5/263)。其中染色体平衡易位携带者4例,均为女性,占染色体异常的80%。现报告如下:

资料与方法

在263对就诊夫妇中,异常儿生育史的118对,胎停育的36对,自然流产2次的71对,自然流产3次的30对,自然流产3次以上的8对。

对263对夫妇每人采静脉血2ml,用RPM I1640+20%小牛血清+PHA培养液5ml,微量全血培养37e72h,收获细胞前2h,加入秋水仙碱(终浓度为0104L g/ml);01075M K Cl低渗处理30min;用甲醇:冰醋酸为3B1的固定液,室温下连续固定3次,每次25min;气干法制片;0125%胰酶消化处理;10%Giemsa液染色10min。每份标本显微镜下计数分析20~30个中期分裂相,显微照相后分析3~5个染色体核型。

结果对,其中平衡易位携带者4例,均为女性,倒位携带者1例,为男性。异常核型及结论见表1。

表1染色体异常核型及结论

病例患者性别年龄染色体核型结论

1严某女2846,XX,t(12;15)(p13;q22)平衡易位携带者2姜某女3046,XX,t(5;11)(p15;p12)平衡易位携带者3皮某女2946,XX,t(4;5)(q31;p15)平衡易位携带者4姜某女3846,XX,t(1;13)(p13;q14)平衡易位携带者5白某男2946,XY,i nv5(p13;q31)倒位携带者

下面介绍4例平衡易位携带者:

病例1:严某,女,28岁。

患者智力及表型正常。因婚后生育一多发畸形死婴来我院就诊。死婴全身水肿,右侧睾丸缺如,四肢短小。患者妇科检查正常,孕期未有服药及不良环境接触史。夫妇非近亲婚配,否认家族遗传病史。患者染色体核型为:46,XX,t (12;15)(p13;q22),其丈夫核型正常。

病例2:姜某,女,30岁。

患者结婚5年,因4次流产、1次死胎来我院就诊。第1、2次妊娠,均在孕2+月自然流产;第3次妊娠,孕4+月自然流产行刮宫术;第4次妊娠,孕7+月死胎引产一男婴;第5 +