Genetic studies of low-abundance human plasma proteins - IX. A new allele at the complement subcomponent C1R structural locus

M. I. Kamboh, Leslie A Lyons, R. E. Ferrell

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Genetic variation in the C1R subcomponent of the first complement component C1 was investigated in U.S. whites by isoelectric focusing and immunoblotting. In addition to the previously described two alleles, the products of a new and rare third allele designated C1R*3 were detected. The expression of the new allele is consistent with autosomal codominant inheritance, which is confirmed by family data. The frequencies of the C1R*1, C1R*2 and C1R*3 alleles in 201 randomly selected U.S. whites are: 0.908, 0.090, and 0.002, respectively.

Original languageEnglish (US)
Pages (from-to)93-94
Number of pages2
JournalHuman Genetics
Volume81
Issue number1
DOIs
StatePublished - Dec 1988
Externally publishedYes

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Blood Proteins
Alleles
Complement C1
Isoelectric Focusing
Immunoblotting

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Genetic studies of low-abundance human plasma proteins - IX. A new allele at the complement subcomponent C1R structural locus. / Kamboh, M. I.; Lyons, Leslie A; Ferrell, R. E.

In: Human Genetics, Vol. 81, No. 1, 12.1988, p. 93-94.

Research output: Contribution to journalArticle

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