ABCMdb

PMID: 10876009

Castaldo G, Martinelli P, Massa C, Fuccio A, Grosso M, Rippa E, Paladini D, Salvatore F
Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience.
Clin Chim Acta. 2000 Aug;298(1-2):121-33., [PubMed]

Sentences

No. Mutations Sentence Comment

65 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Mutation and polymorphism analyses of the CFTR gene A panel of 13 CF mutations (i.e. DF508, N1303K, G542X, 1148T, R553X, W1282X, 1717-1 G . Login to comment 67 ABCC7 p.Leu1065Pro G, L1065P, 711 1 1G . Login to comment 68 ABCC7 p.Gly1244Glu ABCC7 p.Arg1158* T, 4016insT, G1244E and R1158X) was analysed on all the CF families with an allele Table 1 Short tandem repeats (STR) used to exclude maternal contamination and to confirm paternity in prenatal diagnosis of cystic fibrosis. Login to comment 80 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Ile148Thr of cases IVS8 17bCA 17bTA XV2c KM19 and (%) DF508/DF508 13 - - - - - b DF508/N1303K 4 - - - - - DF508/I148T 1 - - - - - DF508/W1282X 1 - - - - - DF508/R553X 1 - - - - - W1282X/N1303K 1 - - - - - N1303K/71111G . Login to comment 82 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys 1 I I I N.T. N.T. N1303K/U 1 I N.T. I N.T. N.T. N1303K/U 1 U I U N.T. N.T. DF508/unknown 1 P.I. U U I U DF508/unknown 1 I I I N.T. N.T. DF508/unknown 1 I I I N.T. N.T. DF508/unknown 1 I U U N.T. N.T. unknown/unknown 1 I N I N.T. N.T. unknown/unknown 1 P.I. U U P.I. P.I. unknown/unknown 1 P.I. U U P.I. P.I. a U: uninformative; I: informative; P.I.: partially informative; N.T.: not tested. Login to comment 94 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys In the twin pregnancy, the mutations of the parents were DF508/N1303K. Direct analysis of the DNA independently extracted from the two chorionic villi samples showed one fetus to be non carrier of mutated alleles and the other to be a carrier of the N1303K mutation (Fig. 1). Login to comment 99 ABCC7 p.Trp1282* In the first case, the female had been identified as a carrier of DF508 (being the sister of a cystic fibrosis carrier), and the partner had been sequentially characterized as a carrier of W1282X even if the familial anamnesis was negative for cystic fibrosis. Login to comment 101 ABCC7 p.Ile148Thr In the second case, the female had been identified as carrier a of DF508, being the sister of a DF508 carrier, and the partner had been sequentially characterized as carrying I148T, even if the family anamnesis was negative for cystic fibrosis. Login to comment 102 ABCC7 p.Ile148Thr The fetus had only the I148T mutation. Login to comment 111 ABCC7 p.Asn1303Lys The couple already had two children affected by CF, bearing the DF508/N1303K genotype. Login to comment 112 ABCC7 p.Asn1303Lys The molecular analysis of chorionic villi DNA revealed one healthy fetus and a carrier of the N1303K mutation. Login to comment