Galjaard H
Histochemistry. 1986;84(4-6):301-7. doi: 10.1007/BF00482954.
The role of cytochemistry in human genetics is reviewed. In basic research, autoradiography and cytochemical staining procedures for DNA, RNA, proteins and other cell constituents have contributed to the understanding of the way DNA is localized, duplicated and translated. The development of new "banding techniques" for the identification of human chromosomes and parts of these together with somatic cell hybridization procedures have significantly contributed to the mapping of the human genome. Cytochemical methods have also been of great help in the elucidation of the responsible molecular defects in Mendelian disorders based on a single gene mutation. The combination of immunological methods and electron-microscopical cytochemistry now enables different posttranslational processing defects to be related to various subcellular compartments. Cytochemistry is also likely to be of importance for the direct demonstration of gene mutations using recombinant DNA technology. Examples are given of contributions of cytochemical methods to the early diagnosis and prevention of congenital disorders. The main examples are the early diagnosis of patients with a chromosomal aberration and of carriers with a balanced translocation. Early genetic counseling of couples at risk forms the basis for prevention of subsequent affected children. Cytochemistry also contributes to the early detection of heterozygotes of X-linked mutations. Finally, autoradiography and ultramicrochemical procedures have been of great help in improving the prenatal diagnosis of genetic metabolic diseases.
本文综述了细胞化学在人类遗传学中的作用。在基础研究中，针对DNA、RNA、蛋白质及其他细胞成分的放射自显影和细胞化学染色程序，有助于理解DNA的定位、复制和翻译方式。用于识别人类染色体及其部分区域的新“显带技术”的发展，以及体细胞杂交程序，对人类基因组图谱绘制做出了重大贡献。细胞化学方法在阐明基于单基因突变的孟德尔疾病的相关分子缺陷方面也有很大帮助。免疫方法与电子显微镜细胞化学的结合，现在能够将不同的翻译后加工缺陷与各种亚细胞区室联系起来。细胞化学对于使用重组DNA技术直接证明基因突变也可能很重要。文中给出了细胞化学方法对先天性疾病早期诊断和预防做出贡献的实例。主要例子是对染色体畸变患者和平衡易位携带者的早期诊断。对有风险的夫妇进行早期遗传咨询是预防后续患病儿童的基础。细胞化学也有助于早期检测X连锁突变的杂合子。最后，放射自显影和超微化学程序在改善遗传代谢疾病的产前诊断方面有很大帮助。
