Analysis of R501X and 2282DEL4 mutations in the flg gene in children with atopic dermatitis in Samarkand region

KHAMIDOVA Farida Muinovna, TOLIBOV Mansur Makhmudovich

Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali · 2025-yil

Annotatsiya

Objective: To study the R501X and 2282del4 mutations of the FLG gene in patients with atopic dermatitis (AD) in accordance with established standards of clinical and laboratory diagnostics. Methods: A retrospective study was conducted among children with atopic dermatitis. In 2024, a total of 42,917 visits for dermatovenereological diseases were registered at the Specialized Scientific-Practical Medical Center of Dermatovenereology and Cosmetology (Samarkand branch). Among these, atopic dermatitis in various clinical forms was diagnosed in 1,330 patients of different ages. For the analysis of the FLG gene (filaggrin gene), blood samples were collected from 100 patients. Results: In the course of the study, the R501X mutation of the FLG gene was not detected in any of the examined groups, including patients with atopic dermatitis (AD), patients with AD combined with obstructive bronchitis, as well as healthy children from the control group. The absence of this mutation in the observed groups may indicate population-specific patterns in the distribution of FLG gene variants, as well as potential ethnic differences in susceptibility to AD. Additionally, this may suggest that the R501X mutation plays a less significant role in the development of the disease in this population compared to the 2282del4 mutation. Among patients with AD and concurrent obstructive bronchitis, 7 individuals were found to carry the 2282del4 mutation, with 2 of them exhibiting the mutation in a homozygous state. Carriers of the 2282del4 FLG gene mutation were also identified among healthy children, highlighting the potential for disease manifestation in the future under the influence of triggering allergens. Conclusion: The obtained data indicate a potential association between the homozygous carriage of the DEL allele (DEL/DEL genotype) and the development of atopic dermatitis.

Maqola ma’lumotlari
MualliflarKHAMIDOVA Farida Muinovna, TOLIBOV Mansur Makhmudovich
JurnalJournal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali
NashriyotТошкент давлат стоматалогия институти, , «Expert Lawyers» MЧЖ
ISSN2181-9300
Nashr sanasi2025-09-05
Jild10
Son3/2
TilIngliz
Ilmiy sohaTibbiyot
Indeksga qo‘shilgan2026-08-27

Maqolaning asl sahifasi

Kalit so‘zlar

атопический дерматит, бронхит, ген филаггрина, кожа, мутация, atopic dermatitis, bronchitis, filaggrin gene, skin, mutation, atopik dermatit, bronxit, Filaggrin geni, teri, mutatsiya

Ilmiy soha

Tibbiyot

Iqtibos keltirish

APAKHAMIDOVA Farida Muinovna, & TOLIBOV Mansur Makhmudovich (2025). ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION. Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 10(3/2). https://tadqiqot.uz/index.php/biomedicine/article/view/12248
GOST (OAK)KHAMIDOVA Farida Muinovna, TOLIBOV Mansur Makhmudovich ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION // Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali. – 2025. – T. 10, № 3/2.
MLAKHAMIDOVA Farida Muinovna, and TOLIBOV Mansur Makhmudovich. “ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION.” Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 10(3/2), 2025. https://tadqiqot.uz/index.php/biomedicine/article/view/12248
ChicagoKHAMIDOVA Farida Muinovna, and TOLIBOV Mansur Makhmudovich. “ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION.” Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 10(3/2) (2025). https://tadqiqot.uz/index.php/biomedicine/article/view/12248
HarvardKHAMIDOVA Farida Muinovna, and TOLIBOV Mansur Makhmudovich (2025) ‘ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION’, Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali, 10(3/2). https://tadqiqot.uz/index.php/biomedicine/article/view/12248
BibTeX
@article{khamidovafaridamuinovna2025,
  title = {ANALYSIS OF R501X AND 2282DEL4 MUTATIONS IN THE FLG GENE IN CHILDREN WITH ATOPIC DERMATITIS IN SAMARKAND REGION},
  author = {KHAMIDOVA Farida Muinovna and TOLIBOV Mansur Makhmudovich},
  journal = {Journal of Biomedicine and Practice – Biomeditsina va amaliyot jurnali},
  year = {2025},
  volume = {10},
  number = {3/2},
  url = {https://tadqiqot.uz/index.php/biomedicine/article/view/12248}
}

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