IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - GENETIC-ANALYSIS
IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - GENETIC-ANALYSIS
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DOI：
10.1126/science.2570460
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发表时间：
1989-09-08
期刊：
影响因子：
56.9
通讯作者：
TSUI, LC
中科院分区：
文献类型：
--
作者：
KEREM, BS;ROMMENS, JM;TSUI, LC
囊性纤维化患者中大约70%的突变对应于三个碱基对的特异性缺失，这导致囊性纤维化基因的推定产物的氨基酸位置508处的苯丙氨酸残基的丢失。基于与推定的疾病基因位点紧密连锁的DNA标记的扩展单倍型数据表明，囊性纤维化突变基因库的其余部分由多个不同的突变组成。一小部分后一种突变等位基因（约8%）可能会在胰腺功能充足的患者亚组中赋予残留的胰腺外分泌功能。在DNA水平上检测囊性纤维化基因突变的能力对基因诊断具有重要意义。
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene. Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations. A small set of these latter mutant alleles (about 8 percent) may confer residual pancreatic exocrine function in a subgroup of patients who are pancreatic sufficient. The ability to detect mutations in the cystic fibrosis gene at the DNA level has important implications for genetic diagnosis.