HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency

M. S. Pollack, H. D. Ochs, B. Dupont

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

It has recently been reported that HLA typing can be used for the prenatal diagnosis of the HLA-linked monogenetic disease, congenital adrenal hyperplasia (21-hydroxylase deficiency type). The authors describe here the use of HLA typing of cultured amniotic cells for the prenatal diagnosis of another HLA-linked disease, complement C4 deficiency. Although C4 is actually coded for by genes at two very closely linked loci, mapping near the HLA-B locus, absolute C4 deficiency behaves genetically like a monogenetic autosomal recessive disease linked to HLA. The HLA typing results for amniotic cells from a pregnancy at risk for C4 deficiency predicted that the fetus would share only one HLA haplotype with the affected child and would therefore be a clinically normal heterozygous carrier of the C4 deficiency alleles with half-normal levels of C4 activity. These predictions were confirmed after delivery.

Original languageEnglish (US)
Pages (from-to)197-200
Number of pages4
JournalClinical Genetics
Volume18
Issue number3
DOIs
StatePublished - 1980
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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