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10年来,测定人胎儿遗传病的方法进展很快。现遇常在妊娠4～6月时采用分析羊水中胎儿脱落细胞来检查诸如Down氏综合征等染色体异常的疾病。而神经管缺陷是由多因子引起的结构畸形,则常用测定母血和羊水甲胎蛋白来诊断。在妊娠4～6个月时,用安全简便的方法抽取羊水,培养胎儿细胞还可检查酶缺陷的单基因病。但因有些基因的表达限于某些类型的细胞,许多疾病不易用羊水中的胎儿细胞来测定。影响血红蛋白多肽链的结构或合成的一些疾病是最为熟知的例子。镰状细胞贫血是人β珠蛋白链最常见的结构异常病,它和β珠蛋白链生成不足的地中海贫血同是发病很广泛的基
10 years, the method of determination of human fetal genetic disease progressed rapidly. Now often in pregnancy 4 to 6 months when the use of fetal amniotic fluid exfoliated cells to check such as Down’s syndrome and other chromosomal abnormalities. The neural tube defects caused by multi-factor structural deformity, the commonly used determination of maternal blood and amniotic fluid alpha-fetoprotein diagnosis. In pregnancy 4 to 6 months, with a safe and easy way to extract amniotic fluid, fetal cells can also be cultured to check the enzyme deficiencies of single gene disease. However, since the expression of some genes is limited to certain types of cells, many diseases are not easily detected by fetal cells in amniotic fluid. Some of the diseases that affect the structure or synthesis of hemoglobin polypeptide chains are the most well-known examples. Sickle-cell anemia is the most common structural aberration in human β-globin chains, and is associated with a broad spectrum of diseases that are associated with under-development of β-globin chains