Prenatal Diagnosis of Ingenited Metabolic Disorders Using Maternal Blood

利用母血进行产前诊断是一种对母儿无创的方法。来自怀孕3-4个月母亲的血液含有胎儿滋养层，1至2-30，000个母细胞。这些有核红细胞具有表面抗原，如血型糖蛋白A、CD-71、CD 36、Y特异性探针和血红蛋白F。利用这些标记，我们尝试用磁珠法、凝集素法和荧光细胞仪法分离胎粪。我们检测了胎儿细胞，并应用于染色体畸变如唐氏综合征、非整倍体综合征和遗传性疾病（戈谢病、法布里病）的DNA诊断。（1）从母体血液中分离胎儿细胞的方法：从我们获得知情同意的20 ml孕妇中分离Fctal有核细胞。采用凝集素柱法、磁珠法和荧光定量法分离胎儿有核细胞。此外，利用D18 S474微卫星标记，我们可以显示来自母血的男性胎儿细胞。此外，USI ...更多信息 利用cDNA微阵列技术，研究胎儿单个细胞中mRNA的表达。结果表明，我们需要更多的细胞来证明。(2)利用胎儿细胞进行染色体病DNA诊断的实验研究我们尝试利用母血进行唐氏综合征和非整倍体综合征的DNA诊断。为了诊断这些疾病，我们首先试图确定非整倍体综合征的发病机制。有资料表明，这种疾病是由纺锤体组装检查点的基因缺陷引起的。(3)通过胎儿细胞进行DNA诊断的遗传性疾病：我们试图确定日本戈谢病和法布里病患者的DNA诊断。我们确定了日本戈谢病的常见突变如下：L444 P，32%，F213 I，17%，D409 H，5.2%，ecNcl，4.2%。日本Fabry病患者的L1 6 H、A37 Vm、W209 X、342 Q、IVS 1 -1、IVS 5 -2、IVS 5 -2、IVS 6 +1等基因突变可用于母血产前诊断。少

Prenatal diagnosis by maternal blood is non-invasive manner for mother and fetus. Blood from 3-4 months pregnant mother contain fetal trophoblasts, 1 to 2-30, 000 mother cells. These nucleated erythrocytes exhibit surface antigens such as glycophorin A, CD-71, CD36, Y specific probe and hemoglobin F. Using these markers, we tried to isolate fetal fells using magnetic beads method, lectin method and fluorocytometer methods. We have detected fetal cells and applied to the DNA diagnosis of chromosomal aberrations such as Down syndrome, Aneuploidy syndrome and genetic diseases (Gaucher, Fabry disease)(1) Isolation method of fetal cells from maternal blood :Fctal nucleated cells were isolated from 20 ml pregnant mothers which we obtained informed consent. Using lectin column, magnetic beads column, and fluorocytometry methods, we could isolated fetal nucleated cells. Furthermore, using D18S474 microsatelite marker, we could demonstrated male fetal cells from maternal blood. Furthermore, usi … More ng cDNA micro array method, we tried to study mNA expression in fetal single cells. The results suggest we need more cells to demonstrate.(2) Chromosomal disorders for DNA diagnosis by fetal cells We attempt to demonstrate to give a DNA diagnosis of Down syndrome and aneuploidy syndrome by maternal blood. In order to give a diagnosis these disorders, first we attempted to determine pathogenesis of Aneuploidy syndrome. Several data suggest that This disorder is caused by gene defect in spindle assembly checkpoints.(3) Genetic disorders by DNA diagnosis by fetal cells :We attempted to determine DNA diagnosis in Japanese patients with Gaucher and Fabry disease. We determined the common mutations in Japanese Gaucher disease as follows : L444P, 32%, F2 1 3 I, 17%, D409H, 5.2%, ecNcl, 4.2%. In other hand, Several mutations in Fabry disease from Japanese patients were follows ; L 1 6 H, A37Vm W209X, 342Q, IVS1-1, IVS5-2, IVS5-2, IVS6+1 and etc. These results could be applied for prenatal diagnosis by maternal blood. Less