Backgrounds: Recently, we have considered two new findings in genetics of 21-hydroxylase deficiency with great interested: the existence of rare RCCX trimodular haplotypes, where the CYP21A2 like-gene downstream of the TNXA gene carries from one to six pseudogene mutations, and population specific allelic frequencies of wild-type CYP21A2 loci in the CYP21A1P pseudogene. Both these events represent a further complication in CYP21A2 genetics. Therefore, the choice of the molecular protocol becomes a crucial point when genetic analysis is required. In this regard, we must consider that the literature is still lacking consistent data on the Italian population. For this reason, we report genetic results obtained on 375 healthy individuals of Italian origin. Methods: Different genetic protocols were compared and novel molecular strategies were performed. Results: In our group, only two known haplotypes were identified. In addition, specific allelic frequencies of CYP21A2 wild-type loci in the pseudogene have been established. Conclusions: Based on our results, we can affirm that the employment of different molecular methods is necessary to ensure a correct CYP21A2 genotyping. In order to avoid mistakes both in patient diagnosis and/or in risk evaluation of the relatives, each case should be investigated in function of a careful clinical evaluation and the molecular test should be performed in specialized centres. (c) 2013 The Authors. Published by Elsevier B.V. All rights reserved.

Concolino, P., Mello Dottoressa, E., Minucci, A., Giardina, B., Capoluongo, E. D., Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population, <<CLINICA CHIMICA ACTA>>, 2013; 424 (Settembre): 85-89. [doi:10.1016/j.cca.2013.05.019] [http://hdl.handle.net/10807/52688]

Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population

Concolino, Paola;Mello Dottoressa, Enrica;Minucci, Angelo;Giardina, Bruno;Capoluongo, Ettore Domenico
2013

Abstract

Backgrounds: Recently, we have considered two new findings in genetics of 21-hydroxylase deficiency with great interested: the existence of rare RCCX trimodular haplotypes, where the CYP21A2 like-gene downstream of the TNXA gene carries from one to six pseudogene mutations, and population specific allelic frequencies of wild-type CYP21A2 loci in the CYP21A1P pseudogene. Both these events represent a further complication in CYP21A2 genetics. Therefore, the choice of the molecular protocol becomes a crucial point when genetic analysis is required. In this regard, we must consider that the literature is still lacking consistent data on the Italian population. For this reason, we report genetic results obtained on 375 healthy individuals of Italian origin. Methods: Different genetic protocols were compared and novel molecular strategies were performed. Results: In our group, only two known haplotypes were identified. In addition, specific allelic frequencies of CYP21A2 wild-type loci in the pseudogene have been established. Conclusions: Based on our results, we can affirm that the employment of different molecular methods is necessary to ensure a correct CYP21A2 genotyping. In order to avoid mistakes both in patient diagnosis and/or in risk evaluation of the relatives, each case should be investigated in function of a careful clinical evaluation and the molecular test should be performed in specialized centres. (c) 2013 The Authors. Published by Elsevier B.V. All rights reserved.
Inglese
Concolino, P., Mello Dottoressa, E., Minucci, A., Giardina, B., Capoluongo, E. D., Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population, <>, 2013; 424 (Settembre): 85-89. [doi:10.1016/j.cca.2013.05.019] [http://hdl.handle.net/10807/52688]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/52688
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 13
  • ???jsp.display-item.citation.isi??? 13
social impact