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PMID: 2984106 Published · ppublish English Journal Article

A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus.

Human genetics ·Vol. 69 ·No. 3 ·1985-00-00 ·Pages 263-7

Matteson KJ, Ostrer H, Chakravarti A, Buetow KH, O'Brien WE, Beaudet AL, Phillips JA

Abstract

A cloned cDNA for alpha-1-antitrypsin (alpha-1-AT) was selected from a human liver cDNA library. The identity of the clone was established by hybrid-selected translation and partial DNA sequencing. The cDNA was used as a probe to search for restriction site polymorphisms (RSPs) near the alpha-1-AT gene. Only two RSPs were found using 29 different restriction enzymes. Each of these polymorphisms resulted from the loss of a restriction site, one for EcoRI and the other for Taq I. The frequency of polymorphic restriction was calculated to be 1.1% to 2.6% of all sites tested, a figure lower than the 9.3% value observed for 12 RSPs in the human beta-globin gene cluster. Since the corresponding figure for detectable polymorphisms at the alpha-1-AT locus at the protein level is 12%, restriction enzymes are comparatively inefficient in detecting genetic variability. The basis of this inefficiency was studied by computing the nucleotide diversity from the RSP data. On the average, one in 500 to 1000 bases is polymorphic around the alpha-1-At locus. This value is comparable to that which we have calculated for the human beta-globin gene cluster and the human growth hormone gene cluster (both one in 500). These data demonstrate the limited usefulness of linked RSPs for genetic linkage studies at the alpha-1-AT locus.

MeSH Terms
Base Sequence Chromosome Mapping Cloning, Molecular DNA/genetics DNA Restriction Enzymes Electrophoresis, Agar Gel Genetic Linkage Genetic Markers Humans Nucleic Acid Hybridization Polymorphism, Genetic alpha 1-Antitrypsin/genetics
Chemicals
Genetic Markers alpha 1-Antitrypsin DNA DNA Restriction Enzymes
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Matteson K J
Ostrer H
Chakravarti A
Buetow K H
O'Brien W E
Beaudet A L
Phillips J A
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00293037
Published
1985-00-00
Pages
263-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00293037 View journal details
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