Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe

A. A. Killeen, S. Seelig, R. A. Ulstrom, H. T. Orr

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

The HLA-B and steroid 21-hydroxylase loci are known to be closely linked. Restriction fragment length polymorphisms seen after digestion of genomic DNA wit MspI and TaqI with the HLA-B locus-specific DNA-probe, pHLA-1.1, were examined in 7 nuclear families with classical steroid 21-hydroxylase deficiency. In each family 2 polymorphic hybridizing bands (corresponding to the 2 HLA-B genes) were seen. In all families, TaqI-generated polymorphisms allowed for identification of children previously shown on clinical and biochemical criteria to be affected by 21-hydroxylase deficiency from their unaffected sibs. The results were in complete agreement with the clinical diagnoses. Among the unaffected children, carriers could be distinguished from non-carriers in all cases by TaqI polymorphisms. MspI-generated polymorphisms allowed for full identification of genotypes in 5 families. In one family, MspI-generated polymorphisms could be used to identify affected from unaffected children, but could not distinguish between carriers and non-carriers. In another family, no identification of genotypes was possible by MspI-generated polymorphisms alone. The HLA-B locus-specific DNA-probe, pHLA-1.1, can be used for diagnosis and genotyping of individuals from families with 21-hydroxylase deficiency. This technique can be used as an alternative to HLA-serotyping, or in situations where HLA-serotyping is technically difficult, for example in chorionic villus samples.

Original languageEnglish (US)
Pages (from-to)703-712
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume29
Issue number3
DOIs
StatePublished - Jan 1 1988

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Steroid 21-Hydroxylase
HLA-B Antigens
DNA Probes
Serotyping
Genotype
Chorionic Villi
Wit and Humor
Nuclear Family
Restriction Fragment Length Polymorphisms
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Digestion
DNA
Genes

Cite this

Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe. / Killeen, A. A.; Seelig, S.; Ulstrom, R. A.; Orr, H. T.

In: American Journal of Medical Genetics, Vol. 29, No. 3, 01.01.1988, p. 703-712.

Research output: Contribution to journalArticle

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