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Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

 

作者: Julian Zielenski,   Danuta Markiewicz,   Hai Shien Chen,   Keith Schappert,   Anneke Seller,   Peter Durie,   Mary Corey,   Lap‐Chee Tsui,  

 

期刊: Human Mutation  （WILEY Available online 1995）
卷期: Volume 5, issue 1  

页码: 43-47

 

ISSN:1059-7794

 

年代: 1995

 

DOI:10.1002/humu.1380050106

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: Cystic fibrosis;CFTR;Mutation;SSCP

 

数据来源: WILEY

 

摘要:

AbstractSix new mutations have been identified in the CFTR gene. These mutations, representing three different categories—missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)—are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T→C) in intron 17b. © 1995 Wiley‐L

 

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