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Article

Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2023

Li Huijun, Zhu Xiangyu, Yang Ying, Wang Wanjun, Mao Aiping, Li Jiaqi, Bao Shilai, Li Jie

Abstract excerpt

BACKGROUND: The sequence similarity between CYP21A2 gene and its inactive pseudogene CYP21A1P, and copy number variation (CNV) caused by unequal crossover, make it challenging to characterize the CYP21A2 gene through traditional methods. This study aimed to evaluate the clinical utility of the long-read sequencing (LRS) method in carrier screening and genetic diagnosis of congenital adrenal hyperplasia (CAH) by...

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Share to Adrenal Hyperplasia, Congenital
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Share to High-Throughput Nucleotide Sequencing

Share to Multiplex Polymerase Chain Reaction

Share to Mutation

Share to Sexual Differentiation and Disorders

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 37276943
DOI: 10.1016/j.cca.2023.117419

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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