Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR

Background: Molecular genetic analysis is the only method that allows accurate detection of Cystic Fibrosis (CF) carriers. Nevertheless, its application is restricted to those families in which the affected child holds known mutations. Since most Chilean CF patients already studied are heterozygous...

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Autores principales:	Riveros K,Nora, Ríos H,Juan
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2005
Materias:	Cystic fibrosis Genetic diseases inborn Polymorphism genetic
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000600005
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spelling	oai:scielo:S0034-988720050006000052005-08-26Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTRRiveros K,NoraRíos H,Juan Cystic fibrosis Genetic diseases inborn Polymorphism genetic Background: Molecular genetic analysis is the only method that allows accurate detection of Cystic Fibrosis (CF) carriers. Nevertheless, its application is restricted to those families in which the affected child holds known mutations. Since most Chilean CF patients already studied are heterozygous and carry a mutation not yet characterized, direct identification of carriers is limited. Linkage analysis of Restriction Fragment Length Polymorphisms (RFLP), using DNA markers closely linked to the CFTR gene, is a useful tool for the detection of carriers in families in which the patient carries an unknown mutation. Aim: To emphasize the usefulness of KM19 and MetH markers for RFLP analysis in extended genealogies in order to identify carriers of unknown mutations. Material and Methods: Selection of three families, in which a sibling of an index case, identified as ÐF-508/unknown mutation, could not be identified as heterozygous carrier or a normal homozygous. Haplotypic characterization for KM19 and MetH markers was performed by PCR amplification of genomic DNA followed by allele specific restriction enzymatic digestion. Results: The siblings of two families were identified as carriers and the sibling of the third family was identified as normal. Conclusions: KM19 and MetH haplotypic analysis provided a rapid method for carrier detection in the families under study. The analysis may be used as a supplement to direct genetic diagnosis and be helpful in genetic counselinginfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.133 n.6 20052005-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000600005es10.4067/S0034-98872005000600005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cystic fibrosis Genetic diseases inborn Polymorphism genetic
spellingShingle	Cystic fibrosis Genetic diseases inborn Polymorphism genetic Riveros K,Nora Ríos H,Juan Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR
description	Background: Molecular genetic analysis is the only method that allows accurate detection of Cystic Fibrosis (CF) carriers. Nevertheless, its application is restricted to those families in which the affected child holds known mutations. Since most Chilean CF patients already studied are heterozygous and carry a mutation not yet characterized, direct identification of carriers is limited. Linkage analysis of Restriction Fragment Length Polymorphisms (RFLP), using DNA markers closely linked to the CFTR gene, is a useful tool for the detection of carriers in families in which the patient carries an unknown mutation. Aim: To emphasize the usefulness of KM19 and MetH markers for RFLP analysis in extended genealogies in order to identify carriers of unknown mutations. Material and Methods: Selection of three families, in which a sibling of an index case, identified as ÐF-508/unknown mutation, could not be identified as heterozygous carrier or a normal homozygous. Haplotypic characterization for KM19 and MetH markers was performed by PCR amplification of genomic DNA followed by allele specific restriction enzymatic digestion. Results: The siblings of two families were identified as carriers and the sibling of the third family was identified as normal. Conclusions: KM19 and MetH haplotypic analysis provided a rapid method for carrier detection in the families under study. The analysis may be used as a supplement to direct genetic diagnosis and be helpful in genetic counseling
author	Riveros K,Nora Ríos H,Juan
author_facet	Riveros K,Nora Ríos H,Juan
author_sort	Riveros K,Nora
title	Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR
title_short	Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR
title_full	Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR
title_fullStr	Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR
title_full_unstemmed	Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR
title_sort	detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el adn asociados fuertemente al gen cftr
publisher	Sociedad Médica de Santiago
publishDate	2005
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000600005
work_keys_str_mv	AT riverosknora deteccionindirectadeportadoresdefibrosisquisticaendosfamiliaschilenasmedianteanalisisdepolimorfismoseneladnasociadosfuertementealgencftr AT rioshjuan deteccionindirectadeportadoresdefibrosisquisticaendosfamiliaschilenasmedianteanalisisdepolimorfismoseneladnasociadosfuertementealgencftr
_version_	1718436208800956416

Detección indirecta de portadores de fibrosis quística en dos familias chilenas mediante análisis de polimorfismos en el ADN asociados fuertemente al gen CFTR

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