ArticleGenetica1994
Identification of a human specific Alu insertion in the factor XIIIB gene.
Article in Genetica, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 24 citations in OpenAlex.
- Alu retrotransposons and COVID-19 susceptibility and morbidity.Human genomics · 2021Review
- Development of Novel High-Resolution Melting-Based Assays for Genotyping Two Alu Insertion Polymorphisms (FXIIIB and PV92).Molecular biotechnology · 2016Article
- Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa.Genome research · 1997Article
- A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.Human genetics · 1996Article
- The role and amplification of the HS Alu subfamily founder gene.Journal of molecular evolution · 1996Article
- Standardized nomenclature for Alu repeats.Journal of molecular evolution · 1996Article
- Genetic variation of recent Alu insertions in human populations.Journal of molecular evolution · 1996Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
The factor XIIIB gene was examined to determine the nature of a previously described 300 bp restriction fragment length polymorphism (RFLP) seen in the human population. Polymerase chain reaction analysis of different regions within the factor XIIIB gene was carried out to define a high resolution map of the region encompassing the polymorphism, followed by DNA sequence analysis. An Alu insertion was found to be the source of this variation. This Alu repeat is a member of the human specific-1 (HS-1) subfamily, although one of the five diagnostic nucleotides is a cattarhine specific (CS) subfamily mutation, suggesting that it may represent an intermediate form in the evolution between these two subfamilies. Subsequently, we developed a PCR-based assay to detect the polymorphism, rendering it a more useful marker for genetic linkage studies and genome mapping. This insertion is also a valuable polymorphism for human population studies, as demonstrated by the large variations in allele frequencies seen in three population groups.
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Registered trials
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