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Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Transl Res. 2010 Nov; 156(5):309-14.TR

Abstract

Friedreich ataxia (FRDA) is the most common hereditary ataxia that is caused mainly by an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. Molecular tests for FRDA diagnosis and carrier detection include polymerase chain reaction (PCR) for the GAA expansion, triplet repeat primed PCR (TP-PCR), and/or Southern blotting. TP-PCR is a method developed to detect trinucleotide expansions successfully applied to FRDA diagnosis. In our laboratory, we have included a PCR for the GAA expansion using fluorescent primers polymerase chain reaction (F-PCR) to identify normal heterozygous and affected individuals unambiguously. The purpose of our study was to reanalyze 310 samples previously diagnosed in our laboratory and compare the results with those obtained by F-PCR and TP-PCR. Eight percent of the discrepancies between the carrier and the normal individuals were identified correctly by this protocol. No discrepancy was detected in the affected individuals. These techniques are effective, and compared with Southern blotting, they are less labor-intensive and suitable for automation. We suggest a new routine protocol for FRDA diagnosis that includes F-PCR and TP-PCR.

Authors+Show Affiliations

Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20970754

Citation

Xunclà, Mar, et al. "Protocol Proposal for Friedreich Ataxia Molecular Diagnosis Using Fluorescent and Triplet Repeat Primed Polymerase Chain Reaction." Translational Research : the Journal of Laboratory and Clinical Medicine, vol. 156, no. 5, 2010, pp. 309-14.
Xunclà M, Rodríguez-Revenga L, Madrigal I, et al. Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction. Transl Res. 2010;156(5):309-14.
Xunclà, M., Rodríguez-Revenga, L., Madrigal, I., Jiménez, D., Milà, M., & Badenas, C. (2010). Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction. Translational Research : the Journal of Laboratory and Clinical Medicine, 156(5), 309-14. https://doi.org/10.1016/j.trsl.2010.08.001
Xunclà M, et al. Protocol Proposal for Friedreich Ataxia Molecular Diagnosis Using Fluorescent and Triplet Repeat Primed Polymerase Chain Reaction. Transl Res. 2010;156(5):309-14. PubMed PMID: 20970754.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction. AU - Xunclà,Mar, AU - Rodríguez-Revenga,Laia, AU - Madrigal,Irene, AU - Jiménez,Dolores, AU - Milà,Montserrat, AU - Badenas,Cèlia, PY - 2010/05/06/received PY - 2010/07/27/revised PY - 2010/08/03/accepted PY - 2010/10/26/entrez PY - 2010/10/26/pubmed PY - 2010/11/10/medline SP - 309 EP - 14 JF - Translational research : the journal of laboratory and clinical medicine JO - Transl Res VL - 156 IS - 5 N2 - Friedreich ataxia (FRDA) is the most common hereditary ataxia that is caused mainly by an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. Molecular tests for FRDA diagnosis and carrier detection include polymerase chain reaction (PCR) for the GAA expansion, triplet repeat primed PCR (TP-PCR), and/or Southern blotting. TP-PCR is a method developed to detect trinucleotide expansions successfully applied to FRDA diagnosis. In our laboratory, we have included a PCR for the GAA expansion using fluorescent primers polymerase chain reaction (F-PCR) to identify normal heterozygous and affected individuals unambiguously. The purpose of our study was to reanalyze 310 samples previously diagnosed in our laboratory and compare the results with those obtained by F-PCR and TP-PCR. Eight percent of the discrepancies between the carrier and the normal individuals were identified correctly by this protocol. No discrepancy was detected in the affected individuals. These techniques are effective, and compared with Southern blotting, they are less labor-intensive and suitable for automation. We suggest a new routine protocol for FRDA diagnosis that includes F-PCR and TP-PCR. SN - 1878-1810 UR - https://www.unboundmedicine.com/medline/citation/20970754/Protocol_proposal_for_Friedreich_ataxia_molecular_diagnosis_using_fluorescent_and_triplet_repeat_primed_polymerase_chain_reaction_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1931-5244(10)00161-1 DB - PRIME DP - Unbound Medicine ER -