Restriction fragment length polymorphism caused by a deletion involving Alu sequences within the human. alpha. sub 2 -plasmin inhibitor gene

Journal Article · Tue Jun 13 04:00:00 EDT 1989 · Biochemistry; (USA)

DOI:https://doi.org/10.1021/bi00438a003· OSTI ID:5228147

Miura, Osamu; Sugahara, Yuichi; Nakamura, Yuichi; Hirosawa, Shinsaku; Aoki, Nobuo ^[1]

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1. Tokyo Medical and Dental Univ. (Japan)

A restriction fragment length polymorphism within the human {alpha}{sub 2}-plasmin inhibitor gene has been detected by Southern blot hybridization using an {alpha}{sub 2}-plasmin inhibitor cDNA probe. This restriction fragment length polymorphism can be attributed to the presence of two alleles, A and B, that are distributed in Hardy-Weinberg equilibrium with frequencies of 73.5% and 2.65%, respectively, in 66 unrelated Caucasian individuals or with frequencies of 51.0% and 49.0%, respectively, in 50 unrelated Japanese individuals. The minor allele, B, is due to a deletion of about 720 base pairs in intron 8 of the {alpha}{sub 2}-plasmin inhibitor gene. Sequence analysis of the deletion junction in allele B and the corresponding regions of allele A demonstrated the presence of oppositely oriented Alu sequences at the 5{prime} and 3{prime} deletion boundaries. These data suggest that this restriction fragment length polymorphism was caused by intrastrand recombination between Alu sequences.

• OSTI ID: 5228147
• Journal Information: Biochemistry; (USA), Journal Name: Biochemistry; (USA) Vol. 28:12; ISSN 0006-2960; ISSN BICHA
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES
ANIMALS
ANTICOAGULANTS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
DNA
DNA SEQUENCING
DRUGS
ENZYMES
FIBRINOLYSIN
FIBRINOLYTIC AGENTS
GENE MUTATIONS
GENE RECOMBINATION
GENES
GLYCOPROTEINS
HEMATOLOGIC AGENTS
HYBRIDIZATION
HYDROLASES
ISOTOPES
LIGHT NUCLEI
MAMMALS
MAN
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PEPTIDE HYDROLASES
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PRIMATES
PROTEINS
RADIOISOTOPES
RECOMBINANT DNA
RFLPS
SERINE PROTEINASES
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES