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Clinical Chemistry 44: 906-913, 1998;
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(Clinical Chemistry. 1998;44:906-913.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Rapid capillary zone electrophoresis in isoelectric histidine buffer: high resolution of the poly-T tract allelic variants in intron 8 of the CFTR gene

Cecilia Gelfi1, Marilena Perego2, Pier Giorgio Righetti2, Silvia Cainarca3, Stefania Firpo4, Maurizio Ferrari4, and Laura Cremonesi4,a

1 Instituto Di Technologie Biomedicrye, Consiglio Nazionale delle Ricerche, 20032 Segrate Milan, Italy.

2 Università di Verona, Faculty of Science, 37134 Verona, Italy.

3 Telethon Institute of Genetics and Medicine, Biomedical Science Park, H.S. Raffaele, Milan, Italy.

4 Instituto Di Ricovero E Cura A Carattere Scientifico, Unit of Genetics and Molecular Biology, H.S. Raffaele, Milan, Italy.
a Author for correspondence. Fax 39-2-26434779; e-mail cremonl{at}dibit.hsr.it.

The poly-T tract in intron 8 of the cystic fibrosis conductance transmembrane regulator (CFTR) gene exists in three variants, 5T, 7T, and 9T. The 7T and 9T variants generate a predominantly normal transcript, whereas the 5T variant engenders an anomalous product. The analysis of the poly-T tract is assuming increasing relevance, both to assess the implication of the CFTR gene in congenital bilateral absence of the vas deferens and to evaluate genotype-phenotype correlation in cystic fibrosis. Mapping of the poly-T tract has been performed by cumbersome and time-consuming methodologies. Capillary zone electrophoresis, combined with laser-induced fluorescence detection, was introduced for a rapid separation of the poly-T tract amplified products. As separation buffer, we adopted 200 mmol/L histidine (pH = pI = 7.6), and the capillary was filled with 10% polyacrylamide, allowing separations in less than 10 min. Capillary zone electrophoresis results were in perfect agreement with dot-blot analysis.




The following articles in journals at HighWire Press have cited this article:


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 Hum ReprodHome page
A. Grangeia, F. Niel, F. Carvalho, S. Fernandes, A. Ardalan, E. Girodon, J. Silva, L. Ferras, M. Sousa, and A. Barros
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens
Hum. Reprod., November 1, 2004; 19(11): 2502 - 2508.
[Abstract] [Full Text] [PDF]

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 Clin. Chem.Home page
E. Kamory, B. Csokay, and Z. Hollo
Rapid Detection of Cystic Fibrosis Transmembrane Conductance Regulator Gene IVS8 5T Variant by Real-Time PCR
Clin. Chem., October 1, 2004; 50(10): 1837 - 1839.
[Full Text] [PDF]


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