GENETIC VALIDATION OF THE NCCAHSCREENF SCREENING SCALE THROUGH MOLECULAR ANALYSIS OF STEROL 21-HYDROXYLASE GENE VARIANTS IN WOMEN OF FERTILE AGE

Authors

  • Usmonov Akmaljon Axmadjonovich Usmonov Akmaljon Axmadjonovich Author

Keywords:

sterol 21-hydroxylase gene, CYP21A2 variants, genetic validation, congenital adrenal cortex hyperplasia, genotype-phenotype correlation, next-generation sequencing, allele frequency, compound heterozygosity, fertile age, molecular diagnostics.

Abstract

This study evaluates the genetic validity of the NCCAHSCREENF screening scale through next-generation sequencing of the sterol 21-hydroxylase encoding gene in 215 fertile-age women, establishing robust genotype-phenotype correlations and confirming the scale's molecular-biological and population-level diagnostic relevance.

Author Biography

  • Usmonov Akmaljon Axmadjonovich, Usmonov Akmaljon Axmadjonovich

    Endocrinologist, Davr Clinic affiliated

    with “Fargʻona tibbiyot fayzi” LLC

References

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Published

2026-05-12

Issue

Vol. 6 No. 1 (2026): FRONTIERS OF KNOWLEDGE AND INTERDISCIPLINARY DISCOVERY

Section

Articles