Cystic fibrosis mutation cluster

Details Cystic fibrosis mutation cluster Cystic fibrosis mutation cluster

1991-01-04

1995-04-18

Wax, Robert A.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 232, 536 2431, 935 77, 935 78, C07H 2100, C12N 1510, C12P 1934, C12Q 168

Patent

active

054077966

ABSTRACT:
Four mutations have been found clustered in exon 11 of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. These mutations occur within a set of amino acids highly conserved among ATP-dependent transport proteins. Humans can be tested to determine whether they carry one of these mutations using a number of methods and/or probes taught herein. Specifically the mutations include: Asn.sub.549, Asp.sub.551, Stop.sub.553, and Thr.sub.559.

REFERENCES:
Kerem, et al., Science, vol. 245, pp. 1073-1080, 1989.
Riordan, et al., Science, vol. 245, pp. 1066-1073, 1989.
Rommens, et al., Science, vol. 245, pp. 1059-1065, 1989.
Sheffield, et al., Proc. Natl. Acad. Sci. USA, vol. 86, pp. 232-236, 1989.
Orita, M. et al, "Rapid & Sensitive Detection of Point Mutations & DNA Polymorphisms Using PCR," Genomics 5:874-879 (1989).
Cuppens, H. et al. "A Child Homozygous for a Stop Codon in Exon 11," J. Med. Genet. 27(11):717-719 (1990).
Cutting, G. R. et al. "A Cluster of Cystic Fibrosis Mutations in the First Nucleotide-Binding Fold of the Cystic Fibrosis Conductance Regulator Protein," Nature 346:366-369. (1990).
Kerem, B. PNAS 87:8447-8451 (1990).

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