Summary
A new PI Q0 variant (PI Q0riedenburg) is described; it is caused by a complete deletion of the α1-antitrypsin (α1AT) gene. The deletion gives rise to four new restriction fragment length polymorphisms (RFLPs) detected with a genomic probe of the 5′ region of the gene. Analysis of the RFLPs indicates that the deletion starts immediately upstream of exon Ic. The deletion extends into the 3′ flanking region of the gene but does not include the α1AT-related gene (the PIL gene), which is located 12 kb downstream of the α1AT gene.
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References
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Poller, W., Faber, JP., Weidinger, S. et al. DNA polymorphisms associated with a new α1-antitrypsin PI Q0 variant (PI Q0riedenburg). Hum Genet 86, 522–524 (1991). https://doi.org/10.1007/BF00194647
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DOI: https://doi.org/10.1007/BF00194647