Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.
1992; Elsevier BV; Volume: 267; Issue: 13 Linguagem: Inglês
10.1016/s0021-9258(19)50430-6
ISSN1083-351X
AutoresC.A. Johnson, Peter Densen, Robert Hurford, H.R. Colten, R.A. Wetsel,
Tópico(s)Congenital Ear and Nasal Anomalies
ResumoTwo variants of a genetic deficiency of complement protein C2 (C2D) have been previously identified.No C2 protein translation is detected in type I deficiency, while type I1 deficiency is characterized by a selective block in C2 secretion.Type I C2 deficiency was described in a family in which the C2 null allele (C2QO) is associated with the major histocompatibility haplotype/complotype HLA-AZS,B18,CZQO,BfS,C4A4, C4B2,DrwZ; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/ haplotype).To determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype.We found a 28-base pair deletion in the type I C2QO gene, beginning 9 base pairs upstream of the 3'-end of exon
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