medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2026.09.14-22medgen-3568Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWПрирода генетической гетерогенности наследственных болезней человекаThe Nature of Genetic Heterogeneity in Human Hereditary DiseasesГинтерЕ. К.GinterE. K.

Гинтер Евгений Константинович115522, г. Москва, ул. Москворечье, д. 1

Eugeny Ginter

ekginter@mail.ruФГБНУ Медико-генетический центр имени академика Н. П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation2026141020262591422Copyright © Гинтер Е.К., 20262026Гинтер Е.К.Ginter E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3568

Статья посвящена анализу природы генетической гетерогенности наследственных болезней человека. Предполагается, что генетическая гетерогенность позволяет выявить главные гены для множества фенотипических признаков человека и, возможно, на этой основе попытаться создать особый уровень взаимоотношений «генотип-фенотип». Рассмотрена проблема общих транскрипционных фактов для генов, образующих одну функциональную группу в фенотипических сериях ОМІМ.

This article analyzes the nature of genetic heterogeneity in human hereditary diseases. It suggests that genetic heterogeneity allows for the identification of key genes for numerous human phenotypic traits and, perhaps, on this basis, the creation of a unique level of genotype-phenotype relationships. The problem of shared transcriptional events for genes forming a single functional group in the OMIM phenotypic series is considered.

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The authors declare that there are no conflicts of interest present.