Clinical Chemistry
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Clinical Chemistry 44: 1346-1348, 1998;
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(Clinical Chemistry. 1998;44:1346-1348.)
© 1998 American Association for Clinical Chemistry, Inc.

Technical Briefs

Clinical Evaluation of the CF(12)m Cystic Fibrosis DNA Diagnostic Kit

Claude Houdayer1, Cecile Cazeneuve2, Emmanuel Cougoureux1, Catherine Magnier1, Mohammed Tredano1, Pierre Aymard1, Michel Goossens2, and Delphine Feldmann1,a

1 Department of Clinical Biochemistry, Hôpital Armand Trousseau, 75012 Paris, France, and
2 Department of Biochemistry and Molecular Genetics, Hôpital Henri Mondor, 94010 Creteil, France;
a author for correspondence: Fax 33 01 44 73 66 65, e-mail dpt-mb@infobiogen.fr

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in the Caucasian population. CF has a carrier frequency of about 1 in 25 and an incidence of 1 in 2000 to 3000 births, depending on the population group (1). Over 650 different mutations of the CFTR gene (2) have been described to date. Rapid and reliable methods are needed for the extensive investigations routinely performed in many laboratories. The CF(12)m kit uses multiplexed amplification refractory mutation system (ARMS(TM)) technology (3), which allows the simultaneous identification of the more prevalent CFTR gene mutations (4) in 1 working day.

Forty DNA samples from CF patients or carriers and an unaffected individual were typed by two genetic testing laboratories. The reference method for DNA typing was the analysis of the 27 exons and the intron-exon boundaries of the CFTR gene as described previously (5). Six additional samples bearing the {Delta}I507, Rl17C, R347H, D1152H, and Rl17P mutations and one bearing the 1540A->G polymorphism, not detectable with the CF(12)m kit, were also tested to evaluate cross-reactivity.

DNA was extracted from thawed blood and analyzed by using the CF(12)m kit as recommended by the manufacturer (Zeneca Diagnostics). The CF(12)m test consists of two tubes. The A tube contains ARMS primers specific for the 1717–1G->A, G542X, W1282X, N1303K, {Delta}F508, and 384910kbC->T mutations. The B tube contains ARMS primers specific for the 6211G->T, R553X, G551D, R117H, R1162X, and R334W mutations. The B tube also contains an ARMS primer specific for the unaffected {Delta}F508 allele. There are also . . . [Full Text of this Article]


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Copyright © 1998 by the American Association for Clinical Chemistry.