ABCC7 p.Ile506Ser
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 9216450
[PubMed]
Braun A et al: "Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry."
No.
Sentence
Comment
68
In the ddT and ddC reactions, the 7288.8-Da 24-mer primer is converted entirely to products consistent with the addition of 5 (8842.8 Da, Fig. 2a) and 14 (11 609.7 Da, Fig. 2b) bases, respectively; the result in Fig. 2a is consistent with not only wild-type, but also a genotype homo- or heterozygous for I506S and ⌬I507.
X
ABCC7 p.Ile506Ser 9216450:68:305
status: NEW69 To resolve this ambiguity, these are readily distinguished on consideration of the ddC reaction, in which wild-type, I506S, and ⌬I507 alleles yield products of dramatically different mass (11 609 vs 9468 and 10 653 Da, respectively).
X
ABCC7 p.Ile506Ser 9216450:69:117
status: NEW73 Further genotype assignment for patients homozygous for ⌬F508 (Fig. 2, e and f), compound heterozygote ⌬I507/⌬F508 (Fig. 2, g and h), and heterozygote for I506S (Fig. 2, i and k) are equally definitive, even though the two molecular species of the peak in Fig. 2h (⌬m ϭ 9 Da) are not resolved.
X
ABCC7 p.Ile506Ser 9216450:73:176
status: NEW96 a and b, homozygous wild-type; c and d, heterozygote wild-type/⌬F508; e and f, homozygous ⌬F508; g and h, compound heterozygote ⌬I507/⌬F508; i and k, heterozygote wild-type/I506S.
X
ABCC7 p.Ile506Ser 9216450:96:201
status: NEW