ABCMdb

PMID: 10875876

Viville S, Warter S, Meyer JM, Wittemer C, Loriot M, Mollard R, Jacqmin D
Histological and genetic analysis and risk assessment for chromosomal aberration after ICSI for patients presenting with CBAVD.
Hum Reprod. 2000 Jul;15(7):1613-8., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCC7 p.Arg347His ABCC7 p.Arg117Cys These samples were at least one mutation, three patients (27%) presented only washed once in phosphate-buffered saline (PBS) and placed in an the ∆F508 mutation and five (45%) presented compound area previously delimited with a diamond pen on superfrosted slides heterozygosity for ∆F508/R347H, ∆F508/R117C, ∆F508/5T, (CML, France). Login to comment 50 ABCC7 p.Arg117His ABCC7 p.Asp443Tyr Slides were air-dried at room temperature, washed ∆F508/D443Y and R117H-7T/5T (see Table I) As expected once in PBS, dehydrated in an ethanol series (70, 90, 100%), air- the ∆F508 mutation was the most frequently found (64%). Login to comment 60 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347His ABCC7 p.Asp443Tyr ABCC7 p.Arg117Cys TMI score Johnsen score CF mutation screening Sweat test Karyotype Family history 1 1 12 NF ND ND No 2 1 12 ∆F508/NF ND Normal No 3 3 11 R117H-7T/5T ND Normal No 4 3 11 NF ND Normal Yes 5 1 11 ∆F508/NF ND Normal No 6 2 11 ∆F508/R347H ND ND Yes 7 4 10 ∆F508/5T ND ND No 8 3 10 ∆F508/NF Neg ND No 9 1 11 NF Pos ND No 10 2 11 ∆F508/R117C Pos ND Yes 11 2 11 ∆F508/D443Y Pos ND No TMI ϭ tubule/membrane/interstitium; CF ϭ cystic fibrosis; ND ϭ not determined; Neg ϭ negative; Pos ϭ positive; NF ϭ not found in 31 screened mutations, including ∆F508, R117H and the variant IVS5T. Login to comment