Homozygous hereditary C3 deficiency due to a partial gene deletion

Détails

ID Serval
serval:BIB_C3C630B7BF53
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Homozygous hereditary C3 deficiency due to a partial gene deletion
Périodique
Proceedings of the National Academy of Sciences of the United States of America
Auteur(s)
Botto  M., Fong  K. Y., So  A. K., Barlow  R., Routier  R., Morley  B. J., Walport  M. J.
ISSN
0027-8424 (Print)
Statut éditorial
Publié
Date de publication
06/1992
Volume
89
Numéro
11
Pages
4957-61
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun 1
Résumé
The molecular mechanism of C3 deficiency in an Afrikaans patient with recurrent pyogenic infections was studied. Restriction enzyme analysis showed a gene deletion of 800 base pairs (bp) mapping to the alpha chain of C3. Amplification of genomic DNA, using the PCR, demonstrated that the deletion included exons 22 and 23 of the C3 gene. Truncated mRNA was shown in an Epstein-Barr virus-transformed B-cell line by PCR amplification of first-strand cDNA. A consequence of this deletion was that the RNA transcribed 3' to the deletion was out of frame, resulting in formation of a stop codon 19 bp downstream from the deletion. The molecular basis of the deletion was compatible with homologous recombination between two Alu sequences located in introns 21 and 23. An unrelated nonconsanguineous relative and two of a sample of 174 Afrikaans-speaking individuals were heterozygous carriers of the same gene deletion. The wide prevalence of this null allele in this population is probably due to the effects of a small founder population. The presence of this deletion in the C3 gene is not compatible with production of any functional C3, supporting the idea that study of such patients offers a valid model for understanding physiological activities of C3 in vivo in humans.
Mots-clé
Base Sequence Chromosome Deletion Complement C3/*deficiency/genetics Female Gene Frequency Humans Introns Molecular Sequence Data Oligodeoxyribonucleotides/chemistry Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Repetitive Sequences, Nucleic Acid South Africa
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 9:39
Dernière modification de la notice
09/05/2019 0:54
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