SIMPLE NONRADIOACTIVE DETECTION OF THE CFTR MUTATION N1303K BY ARTIFICIAL CREATION OF A RESTRICTION SITE

被引：4

作者：

BAL, J

RININSLAND, F

OSBORNE, L

REISS, J

机构：

[1] UNIV GOTTINGEN,INST HUMAN GENET,GOSSLERSTR 12D,W-3400 GOTTINGEN,GERMANY

[2] NATL HEART & LUNG INST,DEPT CYST FIBROSIS,LONDON SW3 6LR,ENGLAND

来源：

MOLECULAR AND CELLULAR PROBES | 1992年 / 6卷 / 01期

关键词：

ARTIFICIAL RESTRICTION SITE; CYSTIC FIBROSIS; MUTATION DETECTION; N1303K; POLYMERASE CHAIN REACTION;

D O I：

10.1016/0890-8508(92)90065-6

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

N1303K is one of the most frequent non-ΔF508 mutations causing cystic fibrosis in Central Europe. Since no restriction site is altered by this mutation and no other frequent mutations are known so far in exon 21, the detection requires a separate and laborious test. A mismatched primer was used to create an artificial Hin dlll site in amplified wildtype DNA, which is destroyed by the mutation. This allows for rapid and convenient detection by restriction enzyme digestion. © 1992.

引用

页码：9 / 11

页数：3

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