Bochkov N P
I. M. Sechenov Moscow Medical Academy, Moscow.
Arkh Patol. 2000 May-Jun;62(3):5-9.
This paper is a review of pathological aspects of hereditary diseases. High significance of mutations in lethal effects of human reproduction is shown, especially in miscarriages and infant death. The importance of genetic approaches for the pathologist's practice is emphasized. Current pathology diagnosis of hereditary diseases includes autopsy, biopsy, histological, histochemical, electron microscopic, cytogenetic, molecular genetic tests. Geneticists and pathologists should work together in the directions: analysis of clinical mistakes, study of pathogenesis, etiopathogenic nosology of the diseases, development of new diagnostic methods.
本文是一篇关于遗传性疾病病理学方面的综述。文中指出了突变在人类生殖致死效应中的高度重要性，尤其是在流产和婴儿死亡方面。强调了遗传方法在病理学家实践中的重要性。目前遗传性疾病的病理学诊断包括尸检、活检、组织学、组织化学、电子显微镜检查、细胞遗传学、分子遗传学检测。遗传学家和病理学家应在以下方向共同努力：分析临床失误、研究发病机制、疾病的病因病理学分类学、开发新的诊断方法。
