Molecular basis of opsonic defect in immunodeficient children.
Low serum mannose-binding protein (MBP) concentrations are associated with a common opsonic defect. Sequence analysis of the MBP gene in three children with recurrent infections, the opsonic defect, and low serum MBP concentrations showed a point mutation at base 230 of exon 1 causing a change of codon 54 from GGC to GAC. The replacement of glycine with an aspartic acid residue disrupts the fifth Gly-Xaa-Yaa repeat in the collagen-like domain of each 32 kD MBP peptide chain and probably prevents the formation of the normal triple helix. Study of sixteen members of the three families showed autosomal dominant co-inheritance of the mutation and low serum MBP concentrations.
Department of Medicine, St. Mary's Hospital Medical School, London, UK.
M
M
Sumiya
M
M
Super
P
P
Tabona
R J
RJ
Levinsky
T
T
Arai
M W
MW
Turner
J A
JA
Summerfield
D000483:Alleles; D002352:Carrier Proteins / Q000097:blood* / Q000235:genetics; D004247:DNA / Q000032:analysis*; D005091:Exons; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D037241:Mannose-Binding Lectins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D015341:Nucleic Acid Probes; D009895:Opsonin Proteins / Q000235:genetics*; D010375:Pedigree
D002352:Carrier Proteins; D037241:Mannose-Binding Lectins; D015341:Nucleic Acid Probes; D009895:Opsonin Proteins; D004247:DNA