Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics | Zendy

Paola Concolino | Zendy; Enrica Mello | Zendy; Angelo Minucci | Zendy; Cecilia Zuppi | Zendy; Ettore Capoluongo | Zendy

Open Access

Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics

Author(s) -

Paola Concolino,

Enrica Mello,

Angelo Minucci,

Cecilia Zuppi,

Ettore Capoluongo

Publication year - 2011

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2011.162230

Subject(s) - multiplex ligation dependent probe amplification , pseudogene , genetics , gene duplication , multiplex , subfamily , congenital adrenal hyperplasia , biology , allele , genotype , microbiology and biotechnology , gene , exon , genome

We read with great interest the recent report in Clinical Chemistry by Cantürk et al. (1). These authors affirmed that the CYP21A1P1 (cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene) genotype interferes with quantitative multiplex ligation-dependent probe amplification (MLPA) analysis of the CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) gene. They also reported that the p.I172N and p.Q318X mutations were absent in 3.6% and 8.5%, respectively, of the CYP21A1P alleles (200 unrelated individuals examined

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