Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.

Low protein levels and copy number variation (CNV) of the fourth component of human complement (C4A and C4B) have been associated with various diseases. High-throughput methods for analysing C4 CNV are available, but they commonly do not detect the most common C4A mutation, a silencing CT insertion...

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Autores principales:	Riitta Paakkanen, Hanna Vauhkonen, Katja T Eronen, Asko Järvinen, Mikko Seppänen, Marja-Liisa Lokki
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/87857a72f2eb4b2baace1b45cd3508af
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spelling	oai:doaj.org-article:87857a72f2eb4b2baace1b45cd3508af2021-11-18T07:14:45ZCopy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.1932-620310.1371/journal.pone.0038813https://doaj.org/article/87857a72f2eb4b2baace1b45cd3508af2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22737222/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Low protein levels and copy number variation (CNV) of the fourth component of human complement (C4A and C4B) have been associated with various diseases. High-throughput methods for analysing C4 CNV are available, but they commonly do not detect the most common C4A mutation, a silencing CT insertion (CTins) leading to low protein levels. We developed a SYBR® Green labelled real-time quantitative polymerase chain reaction (qPCR) with a novel concentration range approach to address C4 CNV and deficiencies due to CTins. This method was validated in three sample sets and applied to over 1600 patient samples. CTins caused C4A deficiency in more than 70% (76/105) of the carriers. Twenty per cent (76/381) of patients with a C4A deficiency would have been erroneously recorded as having none, if the CTins had not been assessed. C4A deficiency was more common in patients than a healthy reference population, (OR = 1.60, 95%CI = 1.02-2.52, p = 0.039). The number of functional C4 genes can be straightforwardly analyzed by real-time qPCR, also with SYBR® Green labelling. Determination of CTins increases the frequency of C4A deficiency and thus helps to elucidate the genotypic versus phenotypic disease associations.Riitta PaakkanenHanna VauhkonenKatja T EronenAsko JärvinenMikko SeppänenMarja-Liisa LokkiPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 6, p e38813 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Riitta Paakkanen Hanna Vauhkonen Katja T Eronen Asko Järvinen Mikko Seppänen Marja-Liisa Lokki Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
description	Low protein levels and copy number variation (CNV) of the fourth component of human complement (C4A and C4B) have been associated with various diseases. High-throughput methods for analysing C4 CNV are available, but they commonly do not detect the most common C4A mutation, a silencing CT insertion (CTins) leading to low protein levels. We developed a SYBR® Green labelled real-time quantitative polymerase chain reaction (qPCR) with a novel concentration range approach to address C4 CNV and deficiencies due to CTins. This method was validated in three sample sets and applied to over 1600 patient samples. CTins caused C4A deficiency in more than 70% (76/105) of the carriers. Twenty per cent (76/381) of patients with a C4A deficiency would have been erroneously recorded as having none, if the CTins had not been assessed. C4A deficiency was more common in patients than a healthy reference population, (OR = 1.60, 95%CI = 1.02-2.52, p = 0.039). The number of functional C4 genes can be straightforwardly analyzed by real-time qPCR, also with SYBR® Green labelling. Determination of CTins increases the frequency of C4A deficiency and thus helps to elucidate the genotypic versus phenotypic disease associations.
format	article
author	Riitta Paakkanen Hanna Vauhkonen Katja T Eronen Asko Järvinen Mikko Seppänen Marja-Liisa Lokki
author_facet	Riitta Paakkanen Hanna Vauhkonen Katja T Eronen Asko Järvinen Mikko Seppänen Marja-Liisa Lokki
author_sort	Riitta Paakkanen
title	Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
title_short	Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
title_full	Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
title_fullStr	Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
title_full_unstemmed	Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.
title_sort	copy number analysis of complement c4a, c4b and c4a silencing mutation by real-time quantitative polymerase chain reaction.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/87857a72f2eb4b2baace1b45cd3508af
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Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.

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