Detection of a Taql polymorphism within the human TPA gene (PLAT)

Ludwig, Michael; Wohn, Karl-Dieter; Langer, Gernot; Schleuning, Wolf‐Dieter; Olek, K.

doi:10.1093/nar/19.16.4575-a

Nucl Acids Res

1991

DOI: 10.1093/nar/19.16.4575-a

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Detection of a Taql polymorphism within the human TPA gene (PLAT)

Michael Ludwig¹,

Karl-Dieter Wohn²,

Gernot Langer³

et al.

Abstract: Source/Description: XLIB18-88 is a 2.1 kb EcoRI fragment isolated from a Charon 21A human chromosome 3 library (1). Polymorphism: MspI digestion of genomic DNA and hybridization with the probe detects a two-allele polymorphism: 14.0 kb (Al) and 9.6 kb (A2). Frequency: Estimated from 120 unrelated Caucasians. A1: 0.41 A2: 0.59 Frequency of Heterozygosity: 0.48.

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Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event

Ludwig¹,

Wohn²,

Schleuning³

et al. 1992

Hum Genet

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Polymerase chain reaction and direct sequencing were used to investigate an amplified DNA fragment containing the suspected polymorphic site of all known intragenic restriction fragment length polymorphisms (RFLPs) within the human tissue-type plasminogen activator (TPA) gene. Sequence data obtained showed that these RFLPs were all generated by the presence or absence of one of the two Alu sequences located in intron h of the human TPA gene. Furthermore, one of the direct repeats flanking this Alu sequence was absent in the minor allele. In addition to indicating the presence of an Alu insertion in an ancestral human TPA gene, these findings suggest a slip-replication mechanism for the deletion of this Alu repeat, once inserted into the gene. As both alleles have been observed in similar frequencies among different ethnic groups, the insertion or subsequent deletion of this Alu sequence in the human TPA gene must have occurred early in human evolution.

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Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event

Ludwig¹,

Wohn²,

Schleuning³

et al. 1992

Hum Genet

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Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans

et al. 1996

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We have investigated the frequency distribution, across a broad range of geographically dispersed populations, of alleles of the polymorphic Alu insertion that occurs within the 8th intron of the tissue plasminogen, activator gene (PLAT). This Alu is a member of a recently derived subfamily of Alu elements that has been expanding during human evolution and continues to be transpositionally active. We used a "population tube" approach to screen 10 chromosomes from each of 19 human populations for presence or absence of this Alu in the PLAT locus and found that all tested populations are dimorphic for presence/absence of this insertion. We show that the previously published EcoRI, HincII, PstI, TaqI, and XmnI polymorphisms at the PLAT locus all result from insertion of this Alu and we use both restriction fragment length polymorphism and polymerase chain reaction analysis to examine the frequency of Alu(+) and Alu(-) alleles in a sample of 1003 individuals from 27 human populations and in 38 nonhuman primates. Nonhuman primates are monomorphic for the Alu(-) allele. Human populations differ substantially in allele frequency, and in several populations both alleles are common. Our results date the insertion event prior to the spread and diversification of modern humans.

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Detection of a Taql polymorphism within the human TPA gene (PLAT)

Cited by 2 publications

References 1 publication

Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event

Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event

Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans

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