A NOVEL CFTR MUTATION, 4035DELA, DETECTED BY NONRADIOACTIVE SSCP ANALYSIS

作者：REISS J^*; LENZ U; RININSLAND F; BALLHAUSEN P; DREWS D; POSSELT HG

来源：Human Genetics, 1992, 90(3): 303-304.

German cystic fibrosis patients were screened for mutations in exon 21 of the cystic fibrosis transmembrane conductance regulator gene by a non-radioactive variation of the single-strand conformation polymorphism technique. Asymetric polymerase chain reaction amplification was used to produce single strands of exon-containing genomic sequences that were analyzed on polyacrylamide gels subsequently stained with ethidium bromide. This rapid technique led to the identification of a novel mutation, a 1-bp deletion at position 4035(A) of the cDNA sequence. The patient, who is also heterozygous for the DELTAF508 mutation, exhibits an intermediate form of the disease.

• 出版日期1992-11