261对流产夫妇染色体的研究

自然流产是妇科常见病,其原因较多。随着细胞遗传学的进展,认为染色体异常是流产的重要原因之一。除与配子形成期或胚胎期染色体畸变有关外,还与流产夫妇是异常染色体携带者有关。本文对261对自然流产夫妇进行了染色体分析,对自然流产病因探讨以及遗传咨询的生育指导,具有重要意义。     

CYTOGENETIC STUDY ON PERIPHERAL LYMPHOCYTES IN TROPHOBLASTIC DISEASES

The frequency of sister chromatid exchanges and chromosomal aberrations of peripheral lymphocytes (i.e., subploid, hyperploid, tetra- ploid, breakage, fragmentation) were studied in 20 cases of hydatidiform mo,le, 23 cases of il:- vasive mole, 22 cases of choriocarcinoma, and 20 normal controls. The. sister chromatid ex- change frequency was 5.74+01.69 per metaphase in normal women, and 6.84+1.56 in hydatidiform mole, 11.49+2.24 in invasive mole, and 11.37+1.90 in choriocarcinoma. The frequency of chromo- somal aberrations was highest in choriocar- cinoma, and lowest in normal controls, with hydatidiform mole and invasive mole second and third. Statistically significant differences were found in these Z indices in the 4 groups.     

ANTENATAL DIAGNOSIS AND MANAGEMENT OF DANDY-WALKER SYNDROME

The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephlus, incomplete cerebellar vermis and a posterior fossa cyst. We present a case of Dandy-Walker syndrome diagnosed antenatany. The assomcted anomalies are reviewed, and the value of antental diagnosis is disussed.     

MOSAICISM CONFINED TO PLACENTA IN PREGNANCIES WITH ADVERSE OUTCOME

Chorionic villi and feral tissues from 50 pathological human conceptions ar gesrarional weeks 9-40 were cultured and cytogenetically analyzed to explore the existence of chromosomal mosaicism confined to the extraembryonic tissues and to clarify the relationship between confined placental mosaicism and adverse outcome of pregnancy. Chorionic villi and fetal rlssues from 12 second trimester gesrations terminated for social reasons served as a control group. In two pathological gestations, true mosaicism was found exclusively in chorionic cells and could not be confirmed in cells derived from the fetal tissues, One of these was severely growth retarded, Concordant results were obtained in all other cases,     

“胎儿诊断胎儿治疗”国际会议简况

1987年11月6～7日,在荷兰鹿特丹召开了“胎儿诊断胎儿治疗”国际学术会议,出席会议的有欧美各国著名妇产科、儿科(外)、儿泌尿科、新生儿科、临床遗传学、基础学科科学家300人。会议集中报告和讨论了几种重大的胎儿畸形的诊断、治疗方法,并指出发展方向和前景。现将其归纳成几点。一、神经管畸形会上报告了病因病理机制;新生儿期外科治疗的适应症及效果;动物实验;胎儿脑积水的宫内治疗等。讨论认为,到目前为止,有关病因问题,仍未能得出结论,发霉土豆病因论基本已被否定,维生素缺乏的观点被多数人接受,但尚需大量研究数据才能作结     

应用荧光原位杂交技术快速诊断胎儿染色体数目异常

目的 探讨荧光原位杂交（ｆｌｕｏｒｅｃｅｎｔ ｉｎ ｓｉｔｕ ｈｙｂｒｉｄｉｚａｔｉｏｎ,ＦＩＳＨ）技术在快速产前诊断胎儿染色体数目异常中的价值。方法 对２０例孕１６￣３６周,有产前诊断指征者,在Ｂ超引导下经腹抽取羊水后,应用Ｘ、Ｙ、１８号染色体着丝粒探针１３ｑ１４－ｑ２１和２１ｑ１１特异性探讨,对未培养的羊水间期细胞进行ＦＩＳＨ,然后用荧光显微镜进行观察,并用Ａｐｐｌｉｅｄ ｉｍａｇｉｎｇ染色体     

三个新的PAH基因短串联重复序列多态性及其在苯丙酮尿症产前诊断中的应用

目的提高经典型苯丙酮尿症的产前诊断的成功率。方法在苯丙氨酸羟化酶（phenylalanine hydroxylase，PAH）基因附近选择了3个新的短串联重复序列（short tandem repeat，STR）位点（PAH26、PAH32和PAH9），进行扩增长度片段多态性分析，确定它们在中国人群的分布及在诊断中的应用价值。结果3个新的STR位点的多态信息含量分别为0．518（PAH26）、0．413（PAH32）和0．362（PAH9）。这3个位点之间，PAH9与第3内含子中的STR位点（TCTA）n之间存在连锁不平衡，其他位点组合不存在连锁不平衡。联合第3内含子中的STR位点（TCTA）n和2个新的位点，可以对家系中突变基因标记进行95％N断，并成功地用于4例产前诊断中。结论选择性地应用PAH基因中的3个STR位点组合，可以95％地区分经典型苯丙酮尿症家系中父母的两个基因，从而准确地进行快速产前诊断。     

用STR对两例DMD高危家系的产前诊断及携带者检出

本文利用DMD基因位点内4个STR部位基因扩增后通过多态性分析对两例非基因缺失型DMD高危家系进行了产前诊断和携带者检出。内含子49内(CA)n杂合频率最高达0.933。这四个部位STR 特异性高,提供的遗传信息量多,利用STR—PCR后多态性分析较以往的RFLPs连锁分析更有价值,该方法将成为一种极有前途的适用于临床产前诊断和携带者检出的新手段。     

早期鼠胚简化双针取样法

为建立早期胚胎活检的动物模型，以安全高效地开展人类的植入前遗传学诊断，应用显微操作技术，对发育到8细胞期的小鼠胚胎进行了透明带溶洞吸取单个卵裂球的研究。结果表明：简化组的胚胎活检时间显著缩短，而胚胎完整率及单个卵裂球的完整率与传统组无明显差别。对照和两实验组胚胎在体外培养过程中均出现不同程度的胚胎发育延迟现象。活检后胚胎桑椹胚的发育率较对照组显著降低，但三组胚胎的出生率和生后三周仔鼠的体重无显著性差别，提示简化组的胚胎活检是安全而高效的，因而为开展人类的早期胚胎活检提供了方法学的参考。