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PMID: 1973405 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 85 ·No. 2 ·1990-07-00 ·Pages 251-2

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

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.

MeSH Terms
Alleles Complement C7/deficiency,genetics Family Family Health Genetic Linkage Heterozygote Homozygote Humans Polymorphism, Genetic Polymorphism, Restriction Fragment Length
Chemicals
Complement C7
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Coto E
Servicio de Inmunología, Hospital Covadonga, Oviedo, Spain.
Martínez-Naves E
Domínguez O
López-Larrea C
References (5)
5 references, click to expand
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    Am J Hum Genet. 1986 Sep;39(3):414-9 PMID: 3766543
  2. Three Japanese families with members carrying C7 silent allele (C7*Q0). Possibility for an association between C7*Q0 and C6*B.
    Hum Hered. 1988;38(4):246-50 PMID: 3169800
  3. A simple salting out procedure for extracting DNA from human nucleated cells.
    Nucleic Acids Res. 1988 Feb 11;16(3):1215 PMID: 3344216
  4. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.
    Anal Biochem. 1983 Jul 1;132(1):6-13 PMID: 6312838
  5. The structure of human complement component C7 and the C5b-7 complex.
    J Biol Chem. 1988 Jan 5;263(1):549-60 PMID: 3335508
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1990-07-00
Pages
251-2
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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