Zakut H, Zamir R, Soreq H
Harefuah. 1989 Jan 15;116(2):81-5.
Novel techniques for the prenatal diagnosis of inherited defects are currently being developed. The long-range aim is to be able to predict precisely, at an early stage of fetal development, the tendency of the fetus to develop multiple genetic, congenital or acquired diseases. We adapted the technique of gene mapping by in-situ hybridization for use with chromosomes from fetal chorionic villi sampling (CVS). Refined mapping of the genes coding for cholinesterase (CHE) in comparison with the haptoglobin and the transferrin receptor genes on CVS chromosomes Nos. 3 and 16 revealed 3 CHE genes in positions 3q21, 3q26, and 16q12. In view of genetic linkage data, at least 2 of these appear to be potentially active. These findings demonstrate that genes, for which molecularly cloned DNA probes are available, may be localized on CVS chromosomes by comparing their localization with that of known genes after in-situ hybridization. The implications for prenatal diagnosis are promising.
目前正在开发用于遗传性缺陷产前诊断的新技术。其长远目标是能够在胎儿发育的早期阶段精确预测胎儿患多种遗传、先天性或后天性疾病的倾向。我们采用原位杂交基因定位技术,用于分析来自胎儿绒毛取样(CVS)的染色体。与3号和16号CVS染色体上的触珠蛋白和转铁蛋白受体基因相比,对编码胆碱酯酶(CHE)的基因进行精细定位,结果显示在3q21、3q26和16q12位置上有3个CHE基因。根据遗传连锁数据,其中至少有2个基因可能具有活性。这些发现表明,对于有分子克隆DNA探针可用的基因,通过原位杂交后将其定位与已知基因的定位进行比较,可将其定位在CVS染色体上。这对产前诊断具有广阔的前景。