一名新的移码突变936delTA纯合子的囊性纤维化患者：病例描述及临床资料
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
作者信息
Chillón M, Casals T, Giménez J, Nunes V, Estivill X
机构信息
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.
出版信息
J Med Genet. 1994 May;31(5):369-70. doi: 10.1136/jmg.31.5.369.
We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.
我们报告了在CFTR基因第6b外显子中鉴定出一种新的移码突变（936delTA）。在对486名无血缘关系的西班牙囊性纤维化（CF）患者进行筛查时，我们发现一名患者为936delTA纯合子（父母为近亲），以及一名患者为ΔF508和936delTA杂合子。基因型-表型相关性研究表明，936delTA与胰腺功能不全和慢性肺部定植有关。
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