ABCMdb

PMID: 1372094

Bal J, Rininsland F, Osborne L, Reiss J
Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site.
Mol Cell Probes. 1992 Feb;6(1):9-11., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Arg347Pro The first is R347P in exon 7, which can easily be tested for by Hha 1 digestion of PCR amplified DNA.' Login to comment 8 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site Jerzy BaI,1 Frauke Rininsland,' Lucy Osborne 2 and Jochen Reiss'* 'lnstitut fur Humangenetik, Universitat Gottingen, Gosslerstrasse 12d, D-3400 Gottingen, Germany and 2Department of Cystic Fibrosis, National Heart and Lung Institute, Manresa Road, London S W3 6LR, UK (Received 20 July 1991, Accepted 7 August 1991) N1303K is one of the most frequent non-AF508 mutations causing cystic fibrosis in Central Europe . Login to comment 12 ABCC7 p.Asn1303Lys KEYWORDS: Artificial restriction site, cystic fibrosis, mutation detection, N1303K, polymerase chain reaction. Login to comment 14 ABCC7 p.Asn1303Lys The use of ASO hybridization to detect N1303K is not only laborious, but also implies work with radioactive material. Login to comment 23 ABCC7 p.Asn1303Lys RESULTS AND DISCUSSION A Hin dill site was introduced at position 4038 through 4043 of the (wild-type) cDNA, which is destroyed by the N1303K mutation (Fig . Login to comment 26 ABCC7 p.Asn1303Lys Five different DNAs from individuals previously identified as N1303K heterozygotes by ASO hybridization, were amplified and exhibited a heterozygous pattern after Hin dill digestion . Login to comment 27 ABCC7 p.Asn1303Lys Ten control DNAs known not to carry N1303K were completely digested after amplification . Login to comment 28 ABCC7 p.Asn1303Lys With this method we then tested 58 non-AF508 chromosomes from Polish CF patients and found N1303K in three different individuals . Login to comment 29 ABCC7 p.Asn1303Lys The N1303K frequency on CF chromosomes in the Polish population was calculated to be 1 .5%. Login to comment