PMID: 18573697

Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, Ramos C
New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.
J Cyst Fibros. 2008 Nov;7(6):505-10. Epub 2008 Jun 24., [PubMed]
Sentences
No. Mutations Sentence Comment
45 ABCC7 p.Arg668Cys
X
ABCC7 p.Arg668Cys 18573697:45:231
status: NEW
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 In the three pregnancies, both parents were carriers of a different CF mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and, in addition, the paternal mutation was distinct in each case as follows: p.Arg668Cys (case 1) and p.Lys710ter (case 2), both located in exon 3 of the CFTR gene, and p.Tyr1092ter (case 3) located in exon 17b of the CFTR gene (Table 1). Login to comment 64 ABCC7 p.Arg668Cys
X
ABCC7 p.Arg668Cys 18573697:64:226
status: NEW
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 Table 1 Description of the parental mutations and their location in the CFTR gene for each case Case Maternal mutation Paternal mutation (PT) base change Location of PT in CFTR gene PCR primers SNaPshot primer 1 p.Phe508del p.Arg668Cys C⇒T Exon 13 Forward: 5'- TGATTCTTTCGACCAATTTAGTG-3' Reverse: 5'- ATCTGGTACTAAGGACAG-3' 5'-AATTCAATCCTAACTGAGACCTTACAC-3' 2 p.Val542ter p.Lys710ter A ⇒ T Exon 13 5'-TTCTCAATCCAATCAACTCTATACGA-3' 3 c.3849+ 10 kb CNT p.Tyr1092ter C ⇒ A Exon 17b Forward: 5'- GGAGTCCAATTTTCACTCATCTTGT-3' Reverse: 5'- CCTGTTGTTAAAATGGAAATGAAGG-3' 5'-ACATACTGCCAACTGGTTCTTGTA-3' Primer sequences used for amplification are also listed. Login to comment