GENE MUTATIONS AND THEIR IMPACT ON HUMAN HEALTH

Authors

  • Kuriyazova Saodat Matkarimovna, Aliqulova Aziza Ulug‘bek qizi, Kudbidinova Gulgina Sherzod qizi Tashkent State Medical University

Keywords:

Gene Mutations, Hereditary Diseases, Human Health, Genetic Diagnostics, Oncology, Neurodegenerative Diseases, Gene Therapy, Molecular Genetic.

Abstract

 Gene mutations are alterations in the genetic material of living organisms, representing one of the primary causes of hereditary diseases. This article provides a comprehensive analysis of the mechanisms, types, and impact of gene mutations on human health. The study examines the role of mutations in the development of oncological, neurodegenerative, and other hereditary conditions. Furthermore, it discusses advancements in genetic diagnostic methods and therapeutic approaches for mutation-driven diseases. The article aims to establish a crucial scientific foundation for developing strategies to prevent and treat genetic disorders.

References

Jorde, Lynn B., John C. Carey, Michael J. Bamshad, and Raymond L. White. Tibbiy Genetika. Philadelphia: Elsevier, 2020.

Chinnery, Patrick F. Genetika va Genomika Tibbiyotda. Oxford: Oxford University Press, 2020.

Ginsburg, Geoffrey S., and Huntington F. Willard. Aniq Tibbiyot: Klinik Amaliyotda Genomikaga Qo'llanma. Cambridge: Academic Press, 2021.

Vissers, Lisenka E. L. M., and Joris A. Veltman. "Kam uchraydigan kasalliklar diagnostikasida genom texnologiyalari." Tabiat Sharhlari Genetika, vol. 22, no. 1, 2021, pp. 1-16.

Porteus, Matthew H. "Inson terapiyasi uchun gen tahrirlash: yangi davr." Genom Tibbiyoti, vol. 13, no. 1, 2021, pp. 1-13.

Richards, Scott, et al. "Ketma-ketlik variantlarini talqin qilish uchun standartlar va ko'rsatmalar: American College of Medical Genetics and Genomics va Association for Molecular Pathology ning qo'shma konsensus tavsiyasi." Tibbiyotda Genetika, vol. 25, no. 10, 2023, pp. 100951.

Landrum, Melissa J., et al. "ClinVar: variant talqinlari va kasallik munosabatlariga kirishni takomillashtirish." Nuklein Kislotalar Tadqiqoti, vol. 48, no. D1, 2020, pp. D877-D888.

Rehm, Heidi L., et al. "Klinik ekzom va genom ketma-ketligida ikkilamchi topilmalarni hisobot qilish uchun ACMG SF v3.1 ro'yxati: Amerika Tibbiy Genetika va Genomika Kolleji (ACMG) siyosat bayonoti." Tibbiyot Genetikasi, jild 24, son 10, 2022, bet. 1915-1921.

Downloads

Published

2026-04-28

How to Cite

Kuriyazova Saodat Matkarimovna, Aliqulova Aziza Ulug‘bek qizi, Kudbidinova Gulgina Sherzod qizi. (2026). GENE MUTATIONS AND THEIR IMPACT ON HUMAN HEALTH. Ethiopian International Journal of Multidisciplinary Research, 13(4), 2421–2424. Retrieved from https://www.eijmr.org/index.php/eijmr/article/view/6470