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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1997-6-3
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pubmed:abstractText |
Cystic fibrosis (CF)--an autosomal recessive disorder caused by mutations in CF transmembrane conductance regulator (CFTR) and characterized by abnormal chloride conduction across epithelial membranes, leading to chronic lung and exocrine pancreatic disease--is less common in African-Americans than in Caucasians. No large-scale studies of mutation identification and screening in African-American CF patients have been reported, to date. In this study, the entire coding and flanking intronic sequence of the CFTR gene was analyzed by denaturing gradient-gel electrophoresis and sequencing in an index group of 82 African-American CF chromosomes to identify mutations. One novel mutation, 3120+1G-->A, occurred with a frequency of 12.3% and was also detected in a native African patient. To establish frequencies, an additional group of 66 African-American CF chromosomes were screened for mutations identified in two or more African-American patients. Screening for 16 "common Caucasian" mutations identified 52% of CF alleles in African-Americans, while screening for 8 "common African" mutations accounted for an additional 23%. The combined detection rate of 75% was comparable to the sensitivity of mutation analysis in Caucasian CF patients. These results indicate that African-Americans have their own set of "common" CF mutations that originate from the native African population. Inclusion of these "common" mutations substantially improves CF mutation detection rates in African-Americans.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1281385,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1284639,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1376017,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1384328,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1427786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1695717,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1710598,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1710599,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1710600,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1715309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-1721624,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-2032331,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-2563631,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-2943217,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-5687399,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-6027893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-6466041,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-6587322,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7534040,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7541274,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7581407,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7595966,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7686423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7738175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7757078,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-7896280,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-8477260,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-8510540,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-8880589,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-9067754,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9150159-9683582
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1122-7
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:9150159-Adolescent,
pubmed-meshheading:9150159-Adult,
pubmed-meshheading:9150159-Africa,
pubmed-meshheading:9150159-African Continental Ancestry Group,
pubmed-meshheading:9150159-Codon, Terminator,
pubmed-meshheading:9150159-Cystic Fibrosis,
pubmed-meshheading:9150159-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:9150159-Frameshift Mutation,
pubmed-meshheading:9150159-Genetic Testing,
pubmed-meshheading:9150159-Humans,
pubmed-meshheading:9150159-Male,
pubmed-meshheading:9150159-Mutation,
pubmed-meshheading:9150159-Point Mutation,
pubmed-meshheading:9150159-United States
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pubmed:year |
1997
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pubmed:articleTitle |
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
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pubmed:affiliation |
Department of Pediatrics and Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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