A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island

作者：Bienvenu T^*; Cartault F; Lesure F; Renouil M; Beldjord C; Kaplan JC

来源：Human Heredity, 1996, 46(3): 168-171.

DOI：10.1159/000154347

• cystic fibrosis
• denaturing gradient gel electrophoresis
• splicing mutation
• Reunion Island

In addition to the frequent Delta F508 and Y122X mutations on cystic fibrosis (CF) chromosomes of patients from Reunion Island, one splicing mutation, 3120+1G --> A is observed relatively frequently (12.5%) in this group, in comparison with the French metropolitan population (<0.001%), This mutation, disrupting the 5' splice donor site of intron 16, can be detected easily by restriction enzyme BstNI digestion. In 2 CF patients homozygous for this mutation, the clinical pattern was severe, with both pancreatic insufficiency and respiratory symptoms.

• 出版日期1996-6