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Article

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

The Journal of clinical endocrinology and metabolism - 20 Feb 2024

Adachi Eriko, Nakagawa Ryuichi, Tsuji-Hosokawa Atsumi, Gau Maki, Kirino Shizuka, Yogi Analia, Nakatani Hisae, Takasawa Kei, Yamaguchi Tomomi, Kosho Tomoki, Murakami Masanori, Tajima Toshihiro, Hasegawa Tomonobu, Yamada Tetsuya, Morio Tomohiro, Ohara Osamu, Kashimada Kenichi

Abstract excerpt

CONTEXT: Recently developed long-read sequencing (LRS) technology has been considered an option for CYP21A2 analysis. However, the clinical use of LRS for CYP21A2 analysis is limited. OBJECTIVE: This study's objective is to develop an efficient and low-cost LRS system for CYP21A2 screening. METHODS: A DNA fragment library was prepared in a single polymerase chain reaction (PCR) that covers the entire CYP21A2 gene...

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Share to Adrenal Hyperplasia, Congenital
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multiplex Polymerase Chain Reaction

Share to Mutation

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 37804107
DOI: 10.1210/clinem/dgad577

Genes

CYP21A2
TNXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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