Kobrinskiĭ B A, Vetrov V P
Genetika. 1980;16(5):918-20.
The paper, which is based on the report made at XIV International Genetical Congress, concerns the problems of applying mathematical methods in differential diagnosis of relatively rare hereditary diseases (Marfan's disease, homocystinuria, mucopolysaccharidosis, epiphyseal dysplasias) and in analysis of phenotypical differences in dominant and recessive type of inheritance. Results of algorithmic mechanisms of detection, which provide a diagnosis during establishment of phenotypically homogeneous subgroups of patients within existing nosologic entities, are discussed. With such an approach, efficiency of diagnosis reaches 90% and more. In case of various possible modes of inheriting a disease with a genealogic history fragmentary or absent the authors propose that determining a possible type of hereditary transmission should be approached by analysis of phenotypical similarity of difference with reference to patients with cleared dominant or recessive type of inheritance. The latter is based on the discovery of phenotypical difference between patients with differing types of transmission of the mutant genes.
该论文基于在第十四届国际遗传学大会上所做的报告，探讨了数学方法在相对罕见的遗传性疾病（马方综合征、同型胱氨酸尿症、黏多糖贮积症、骨骺发育异常）鉴别诊断中的应用问题，以及在显性和隐性遗传类型的表型差异分析中的应用问题。文中讨论了在现有疾病分类实体中建立表型同质的患者亚组时用于诊断的算法机制的结果。采用这种方法，诊断效率可达90%及以上。对于系谱史不完整或不存在的疾病的各种可能遗传模式，作者建议通过参考已明确显性或隐性遗传类型的患者，分析表型相似性或差异来确定可能的遗传传递类型。后者基于对携带突变基因的不同传递类型患者之间表型差异的发现。
