Article
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics - 1 Jan 2004
Groman Joshua D, Hefferon Timothy W, Casals Teresa, Bassas Lluís, Estivill Xavier, Des Georges Marie, Guittard Caroline, Koudova Monika, Fallin M Daniele, Nemeth Krisztina, Fekete Gyorgy, Kadasi Ludovit, Friedman Ken, Schwarz Martin, Bombieri Cristina, Pignatti Pier Franco, Kanavakis Emmanuel, Tzetis Maria, Schwartz Marianne, Novelli Giuseppe, D'Apice Maria Rosaria, Sobczynska-Tomaszewska Agnieszka, Bal Jerzy, Stuhrmann Manfred, Macek Milan, Claustres Mireille, Cutting Garry R
Abstract excerpt
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. To test whether the number of TG repeats adjacent to 5T influences disease...
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