Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.
DNA polymorphisms (RFLPs) of the human complement component C6, C7, and C9 genes were studied in three C7-deficient (C7D) families, one C6-deficient (C6D) family, and one C9-deficient (C9D) family. The 3 loci are closely linked on human chromosome 5. The haplotypes carrying the "silent" allele (C7*Q0, C6*Q0, and C9*Q0) were defined in each family, allowing for the detection of carriers among asymptomatic relatives. This paper describes familial studies on a type of hereditary trait, characterized by recurrent Neisseria infections in individuals homozygous for "silent" alleles at the C6, C7, or C9 loci.
Alvarez
V
V
Servicio de Inmunología, Hospital Central de Asturias, Oviedo, Spain.
Coto
E
E
Setién
F
F
Spath
P J
PJ
López-Larrea
C
C
D000483:Alleles; D003183:Complement C6 / Q000172:deficiency* / Q000235:genetics*; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics*; D003186:Complement C9 / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008589:Meningococcal Infections / Q000235:genetics / Q000276:immunology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012008:Recurrence; D018805:Sepsis / Q000235:genetics / Q000276:immunology
D003183:Complement C6; D003184:Complement C7; D003186:Complement C9