title: DNA polymorphism of the human complement component C7 gene in familial deficiencies.
abstract: A C7 cDNA probe detecting a TaqI restriction fragment length polymorphism has been used to examine the segregation of the "silent allele" (C7*Q0) in two familial deficiencies. Carrier diagnosis in healthy children is possible when both parents are heterozygotes. Only one of these two families was informative. The "silent allele" is linked to different TaqI alleles in both families. This suggests that at least two different C7*Q0 alleles are present in our population. This paper gives a protocol for genetic studies of hereditary traits in which the C7 gene and other genes tightly linked to it are involved.
authors.affiliation: Servicio de Inmunología, Hospital Covadonga, Oviedo, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Coto
authors.forename: E
authors.initials: E
authors.lastname: Martínez-Naves
authors.forename: O
authors.initials: O
authors.lastname: Domínguez
authors.forename: C
authors.initials: C
authors.lastname: López-Larrea
mesh_terms: D000483:Alleles; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics; D005190:Family; D005192:Family Health; D008040:Genetic Linkage; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D003184:Complement C7