MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS

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Published: 2025-10-05
DOI: https://doi.org/10.66073/researchfocus.v4i9.1755
Keywords:
genetic load, mutation spectrum, local population, hereditary diseases, consanguinity, neonatal screening, genetic epidemiology, autosomal recessive diseases, molecular genetics

Main Article Content

Daminov Muslimbek Asadullayevich
ZARMED University
Jumanov Muratbay Arepbayevich
Karakalpak State University

Abstract

This article presents data from the literature showing that in recent decades molecular biology and genetic research have revealed the mechanisms of the origin of many hereditary diseases in the human organism. In addition, thanks to the complete study of the human genome and the introduction of next-generation sequencing technologies, the genetic determination of diseases, the spectrum of mutations and the molecular mechanisms of pathogenesis are being analysed in depth. Among genetic diseases, the most frequently encountered are blood diseases (thalassaemia, haemophilia), metabolic disorders (phenylketonuria, galactosaemia), oncological syndromes and also neurological diseases. This article analyses the scientific literature on the molecular foundations of genetic diseases in humans.

Article Details

Issue

Vol. 4 No. 9 (2025): Research Focus International Scientific Journal. Volume 4, Issue 9 (2025)

Section

03.00.00 – Biological sciences
Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

How to Cite

MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS. (2025). Research Focus International Scientific Journal, 4(9), 11-15. https://doi.org/10.66073/researchfocus.v4i9.1755

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