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Article

PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module.

Genomics - 1 May 2004

Lee Hsien-Hsiung, Lee Yann-Jinn, Lin Ching-Yu

Abstract excerpt

Detection of the CYP21 deletion in congenital adrenal hyperplasia (CAH) in the RCCX module has been previously done by Southern blot analysis with multiple probes and separate digestions with the restriction endonucleases TaqI and BglII, which is laborious and indirect. Here, we describe an established PCR-based amplification method to analyze directly a CAH patient with a single CYP21 deletion, followed by RFLP...

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Topics

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Share to Adrenal Hyperplasia, Congenital
Share to Deoxyribonucleases, Type II Site-Specific

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Polymorphism, Restriction Fragment Length

Share to Proteins

Share to Recombination, Genetic

Share to Sequence Deletion

Share to Steroid 21-Hydroxylase

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Source

Identifiers

PMID: 15081125
DOI: 10.1016/j.ygeno.2003.11.006

Genes

TNXB

Variants

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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