Publication Date:
1989-09-08
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kerem, B -- Rommens, J M -- Buchanan, J A -- Markiewicz, D -- Cox, T K -- Chakravarti, A -- Buchwald, M -- Tsui, L C -- DK34944/DK/NIDDK NIH HHS/ -- GM33771/GM/NIGMS NIH HHS/ -- HD00774/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1989 Sep 8;245(4922):1073-80.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2570460" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Chromosome Deletion
;
Cystic Fibrosis/diagnosis/enzymology/*genetics
;
DNA Mutational Analysis
;
*Genes, Recessive
;
Genetic Linkage
;
Genetic Markers
;
Haplotypes
;
Humans
;
Pancreas/enzymology
;
Polymorphism, Restriction Fragment Length
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
