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PMID: 2890296 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin gene.

American journal of human genetics ·Vol. 41 ·No. 5 ·1987-11-00 ·Pages 891-906

Cox DW, Billingsley GD, Mansfield T

Abstract

Restriction-site variation in and around the alpha 1-antitrypsin gene has been studied using two genomic probes. With use of restriction enzymes SstI, MspI, and AvaII, three polymorphic sites have been described with a 4.6-kb probe in the 5' portion of the gene. With use of a 6.5-kb probe, polymorphisms in the coding and 3' regions of the gene have been detected with AvaII, MaeIII, and TaqI. All of these polymorphisms are of sufficiently high frequency to be useful in genetic mapping studies. The polymorphisms with AvaII and MaeIII (6.5-kb probe) are particularly useful for prenatal diagnosis. PI types and M subtypes tend to be associated with specific DNA haplotypes; there are two different types of DNA haplotypes associated with PI M1. The extent of linkage disequilibrium differs throughout the region of the alpha 1-antitrypsin gene.

MeSH Terms
Alleles DNA/genetics Gene Frequency Genetic Markers Humans Phenotype Polymorphism, Genetic Polymorphism, Restriction Fragment Length alpha 1-Antitrypsin/genetics
Chemicals
Genetic Markers alpha 1-Antitrypsin DNA
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Cox D W
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Billingsley G D
Mansfield T
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1987-11-00
Pages
891-906
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684335
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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