Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.

doi:10.1007/978-1-4939-0835-6_19

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Article

Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2014

Lee Hsien-Hsiung

Abstract excerpt

CYP21A2, the gene that codes for P450c21 (Steroid 21-hydroxylase), has a duplicated pseudogene called CYP21A1P. The gene and the pseudogene share 98 % and 96 % sequence homology in exons and in noncoding sequences, respectively, and are located 30 kb apart within the HLA class III human histocompatibility complex locus on chromosome 6p21.3. CYP21A1P is inactive due to the presence of 11 deteriorated mutations in...

Topics

DNA Mutational Analysis
Humans
Mutation
Polymerase Chain Reaction
Pseudogenes
Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 24823785
DOI: 10.1007/978-1-4939-0835-6_19

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