Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 52: 1621-1622, 2006; 10.1373/clinchem.2005.065383
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Web of Science (3)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Costa, C.
Right arrow Articles by Girodon, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Costa, C.
Right arrow Articles by Girodon, E.
Related Collections
Right arrow Molecular Diagnostics and Genetics
(Clinical Chemistry. 2006;52:1621-1622.)
© 2006 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Simultaneous Molecular Haplotyping of Both IVS8 (TG)m and (T)n Tracts in the CFTR Gene: Still a Challenge

Catherine Costaa, Michel Goossens and Emmanuelle Girodon

AP-HP, CHU Henri Mondor, Laboratoire de, Génétique Moléculaire, Unité INSERM U654, Créteil 94010, France

aAddress correspondence to this author at: Laboratoire de Génétique Moléculaire, CHU Henri Mondor, 51 avenue du Maréchal de Lattre de Tassigny, 94010 Créteil, France. Fax 33-149-812-842; e-mail catherine.costa@im3.inserm.fr.

The first 20% of the full text of this article appears below.


To the Editor:

Millson et al. (1) recently reported the use of melting curve analysis of hybridization probes to direct molecular haplotyping of both the IVS8 poly(TG) and poly(T) repeat tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Precise genotyping at this locus may be clinically relevant in CFTR pathology because longer (TG)m associated with shorter (T)n repeats are less favorable for the efficiency of exon 9 splicing. In particular, the (TG)m locus influences penetrance of the T5 allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens or by atypical cystic fibrosis, with discrimination between (TG)11(T)5, (TG)12(T)5,and (TG)13(T)5 being clinically relevant (2). Growing interest in this area has led to the development of several assessment methods, most of them multistep and time-consuming. The method described by Millson . . . [Full Text of this Article]




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


Home page
 Clin. Chem.Home page
C. Costa, J.-M. Costa, J. Martin, B. Boissier, M. Goossens, and E. Girodon
Multiplex Allele-Specific Fluorescent PCR for Haplotyping the IVS8 (TG)m(T)n Locus in the CFTR Gene
Clin. Chem., September 1, 2008; 54(9): 1564 - 1567.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
C. Bareil, C. Guittard, J.-P. Altieri, C. Templin, M. Claustres, and M. des Georges
Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders
J. Mol. Diagn., November 1, 2007; 9(5): 582 - 588.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
V. Mantovani, P. Garagnani, P. Selva, C. Rossi, S. Ferrari, M. Cenci, N. Calza, V. Cerreta, D. Luiselli, and G. Romeo
Simple Method for Haplotyping the Poly(TG) Repeat in Individuals Carrying the IVS8 5T Allele in the CFTR Gene
Clin. Chem., March 1, 2007; 53(3): 531 - 533.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2006 by the American Association for Clinical Chemistry.