Document Detail

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.
MedLine Citation:
PMID:  2989709     Owner:  NLM     Status:  MEDLINE    
The alpha 1-protease inhibitor, or alpha-antitrypsin (AAT), a major plasma inhibitor of leukocyte elastase and bacterial proteases, is encoded at the PI locus on chromosome 14 (14q24.3-q32.1). A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early adult onset emphysema and liver disease in childhood. We have now used DNA polymorphisms associated with the AAT gene to investigate the origin of the PI Z allele. Using two genomic probes extending into the 5' and 3' flanking regions, respectively, we have identified eight polymorphic restriction sites. Extensive linkage disequilibrium occurs throughout the probed region with the PI Z allele, but not with normal PI M alleles. The Z allele occurs mainly with one haplotype, indicating a single, relatively recent, origin in caucasians.
D W Cox; S L Woo; T Mansfield
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature     Volume:  316     ISSN:  0028-0836     ISO Abbreviation:  Nature     Publication Date:    1985 Jul 4-10
Date Detail:
Created Date:  1985-08-21     Completed Date:  1985-08-21     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0410462     Medline TA:  Nature     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  79-81     Citation Subset:  IM    
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MeSH Terms
DNA Restriction Enzymes / metabolism
Polymorphism, Genetic
alpha 1-Antitrypsin Deficiency*
Grant Support
Reg. No./Substance:
EC 3.1.21.-/DNA Restriction Enzymes

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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