Association of a 12.5-kilobase allele of the MspI restriction fragment length polymorphism of the C6 gene in patients with total deficiency of the sixth component of complement.

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Article

Association of a 12.5-kilobase allele of the MspI restriction fragment length polymorphism of the C6 gene in patients with total deficiency of the sixth component of complement.

Experimental and clinical immunogenetics - 1 Jan 1993

Potter P C, Warburton C, Würzner R, Orren A, Di Scipio R

Abstract excerpt

The distribution of MspI restriction fragment length polymorphism (RFLP) alleles was investigated using the C6-PVX probe of the sixth component of complement (C6) and DNA from lymphocytes of 11 patients with homozygous C6 deficiency (C6Q0), 18 of their family members, 3 patients with subtotal C6 deficiency (C6SD) and 28 normal C6-sufficient controls. A biallelic polymorphism of 12.5- and 8.2-kb RFLP alleles was...

Topics

Alleles
Autoradiography
Blotting, Southern
Complement C6
Complement C7
DNA
DNA Probes
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Frequency

Humans

Male

Pedigree

Polymorphism, Restriction Fragment Length

South Africa

Source

Open in PubMed

Identifiers

PMID: 7691111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7691111-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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