1. Heterozygous variant at nucleotide position A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay 
GianMaria Miolo, M.D., Marina Crovatto, Ph.D., Massimo Manno, M.Sc., Barbara Pivetta, Ph.D., Giovanni Tessitori, Ph.D., Luigi Picci, Ph.D. 
Fertility and Sterility 
Volume 95, Issue 3, Pages 1121.e e4 (March 2011)
DOI: /j.fertnstert
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

2. Figure 1
CFTR gene screening of our patient by Line Probe Assay shows a double heterozygosity for the F508del and 852del22 mutations, whereas his father was found to be heterozygous for F508del.
Fertility and Sterility  , 1121.e e4DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

3. Figure 2
CFTR exon 6A sequence analysis of our patient revealed (A) the variant A>T (the arrow shows variant A>T) and (B) the absence of 852del22 mutation. CFTR exon 6A sequence analysis of a heterozygous control both for the F508del and 852del22 mutations shows (C) absence of variant A>T and (D) heterozygosity for the 852del22 mutation (the arrow shows the deletion responsible for the frameshift).
Fertility and Sterility  , 1121.e e4DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions