A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 M/N polymorphism

Summary We report a new polymorphism in the complement C7 gene that results from an A‐C transversion in intron 12, 27 bp upstream of exon 13 (C712.‐27) and 36 bp upstream of the point mutation that underlies the C7 M/N antigenic polymorphism. The C7 12.‐27 polymorphism subdivides C7 M haplotypes, bu...

Full description

Saved in:
Bibliographic Details
Published inAnnals of human genetics Vol. 60; no. 2; pp. 179 - 182
Main Authors FERNIE, B. A., WÜRZNER, R., ORREN, A., HOBART, M.
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.03.1996
Cambridge University Press
Subjects
Base Sequence
Biological and medical sciences
Child
Complement C7 - deficiency
Complement C7 - genetics
Gene Frequency
Humans
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunopathology
Introns - genetics
Medical sciences
Molecular Sequence Data
Point Mutation - genetics
Polymorphism, Genetic
Human
Immunopathology
Complement C7
Deficiency
Mutation
Molecular biology
Immune deficiency
Polymorphism
Online AccessGet full text

Cover

More Information
Summary:Summary We report a new polymorphism in the complement C7 gene that results from an A‐C transversion in intron 12, 27 bp upstream of exon 13 (C712.‐27) and 36 bp upstream of the point mutation that underlies the C7 M/N antigenic polymorphism. The C7 12.‐27 polymorphism subdivides C7 M haplotypes, but not C7 N. It also sheds light on the evolution of the various types of deficiency genes at the adjacent C6 locus.
Bibliography:Dept. of Immunology, University College Hospital, Galway, Ireland.
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Article-1
ObjectType-Feature-2
ISSN:0003-4800
1469-1809
DOI:10.1111/j.1469-1809.1996.tb01187.x