Abstract
The AvaII polymorphic site within the human CD18 gene was investigated in the Japanese population. A distinct distribution pattern is observed in this population. This polymorphism provides a new genetic marker for the long arm of chromosome 21 and should be a useful marker of leukocyte adhesion deficiency caused by mutations of the CD18 gene.
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Kishimoto TK, O'Connor K, Lee A, Roberts TM, Springer TA (1987) Cloning of the β subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family. Cell 48:681–690.
Matsuura S, Kishi F, Tsukahara M, Nunoi H, Matsuda I, Kobayashi K, Kajii T (1992) Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form. Biochem Biophys Res Commun 184:1460–1467.
Solomon E, Palmer RW, Hing S, Law SKA (1988) Regional localization of CD18, the subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization. Ann Hum Genet 52:123–128.
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Mastuura, S., Kishi, F. Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus. Hum Genet 93, 721 (1994). https://doi.org/10.1007/BF00201583
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DOI: https://doi.org/10.1007/BF00201583