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HLA typing of cultured amniotic cells for the prenatal diagnosis of complement C4 deficiency
Author(s) -
Pollack MarilynS.,
Ochs HansD.,
Dupont Bo
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00871.x
Subject(s) - human leukocyte antigen , prenatal diagnosis , immunology , typing , biology , congenital adrenal hyperplasia , locus (genetics) , hla a , amniotic fluid , haplotype , disease , allele , fetus , genetics , medicine , pregnancy , gene , pathology , antigen
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). We 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.