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Article

DNA polymorphism of the human complement component C7 gene in familial deficiencies.

Human genetics - 1 Jul 1990

Coto E, Martínez-Naves E, Domínguez O, López-Larrea C

Abstract excerpt

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...

Topics

Alleles
Complement C7
Family
Family Health
Genetic Linkage
Heterozygote
Homozygote
Humans
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1973405
DOI: 10.1007/BF00193207

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1973405-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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