Molecular foundations of genetic diseases in humans

Daminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich, Даминов Муслимбек Асадуллаевич, Жуманов Муратбай Арепбаевич, Daminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich

Research Focus · 2025-yil

Annotatsiya

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.

Maqola ma’lumotlari
MualliflarDaminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich, Даминов Муслимбек Асадуллаевич, Жуманов Муратбай Арепбаевич, Daminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich
JurnalResearch Focus
NashriyotВетеринария ИТИ ва “Илм-фан ва инновациялар академияси” МЧЖ
ISSN2181-3833
Nashr sanasi2025-10-05
Jild4
Son9
Betlar11-15
TilIngliz
Ilmiy sohaVeterinariya
DOI10.66073/researchfocus.v4i9.1755
Indeksga qo‘shilgan2026-09-08

Kalit so‘zlar

генетический груз, спектр мутаций, местная популяция, наследственные заболевания, кровное родство, неонатальный скрининг, генетическая эпидемиология, аутосомно-рецессивные заболевания, молекулярная генетика, genetik yuk, mutatsiyalar spektri, mahalliy populyatsiya, irsiy kasalliklar, konsanguinitet, neonatal skrining, genetik epidemiologiya, autosomal-retsessiv kasalliklar, molekulyar genetika, genetic load, mutation spectrum, local population, hereditary diseases, consanguinity, neonatal screening, genetic epidemiology, autosomal recessive diseases, molecular genetics

Ilmiy soha

Iqtibos keltirish

APADaminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich, Даминов Муслимбек Асадуллаевич, Жуманов Муратбай Арепбаевич, Daminov Muslimbek Asadullayevich, & Jumanov Muratbay Arepbayevich (2025). MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS. Research Focus, 4(9), 11-15. https://doi.org/10.66073/researchfocus.v4i9.1755
GOST (OAK)Daminov Muslimbek Asadullayevich va b. MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS // Research Focus. – 2025. – T. 4, № 9. – P. 11-15. – DOI: 10.66073/researchfocus.v4i9.1755.
MLADaminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich, Даминов Муслимбек Асадуллаевич, Жуманов Муратбай Арепбаевич, Daminov Muslimbek Asadullayevich, and Jumanov Muratbay Arepbayevich. “MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS.” Research Focus, 4(9), 11-15, 2025. https://doi.org/10.66073/researchfocus.v4i9.1755
ChicagoDaminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich, Даминов Муслимбек Асадуллаевич, Жуманов Муратбай Арепбаевич, Daminov Muslimbek Asadullayevich, and Jumanov Muratbay Arepbayevich. “MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS.” Research Focus, 4(9), 11-15 (2025). https://doi.org/10.66073/researchfocus.v4i9.1755
HarvardDaminov Muslimbek Asadullayevich, Jumanov Muratbay Arepbayevich, Даминов Муслимбек Асадуллаевич, Жуманов Муратбай Арепбаевич, Daminov Muslimbek Asadullayevich, and Jumanov Muratbay Arepbayevich (2025) ‘MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS’, Research Focus, 4(9), 11-15. https://doi.org/10.66073/researchfocus.v4i9.1755
BibTeX
@article{daminovmuslimbekasadullayevich2025,
  title = {MOLECULAR FOUNDATIONS OF GENETIC DISEASES IN HUMANS},
  author = {Daminov Muslimbek Asadullayevich and Jumanov Muratbay Arepbayevich and Даминов Муслимбек Асадуллаевич and Жуманов Муратбай Арепбаевич and Daminov Muslimbek Asadullayevich and Jumanov Muratbay Arepbayevich},
  journal = {Research Focus},
  year = {2025},
  volume = {4},
  number = {9},
  pages = {11-15},
  doi = {10.66073/researchfocus.v4i9.1755},
  url = {https://doi.org/10.66073/researchfocus.v4i9.1755}
}

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