Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency

J. Nakura, T. Miki, K. I. Fukuchi, K. Shimizu, O. Nose, S. Takai, P. C. White, T. Honjo, Y. Kumahara

Research output: Contribution to journalArticle

Abstract

DNA samples from five unrelated Japanese patients with 21-hydroxylase (21-OHase) deficiency were studied by Southern analysis using human 21-OHase cDNA. Patterns seen after digestion with not only TaqI but also KpnI showed that two out of the five patients were homozygous for a deletion of the 21-OHase B gene. This result supports the report that the 21-OHase B gene is functional. In the other three, smaller mutations might be responsible for the disorder. The parents of one of the two patients with the deletion had a common ancestor. Hybridization patterns of DNA from members of the family of the patient were consistent with an autosomal recessive mode of inheritance of the deletion that correlates with the clinical phenotype. The deletion segregated with HLA-Aw 24; Bw 61; Cw 3. Heterozygous carriers of 21-OHase deficiency could be detected by comparing the patterns as well as the HLA haplotypes in this family. The application of the family study to the prenatal diagnosis is also discussed.

Original languageEnglish (US)
Pages (from-to)373-379
Number of pages7
JournalEndocrinologia Japonica
Volume34
Issue number3
StatePublished - 1987

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Steroid 21-Hydroxylase
Genes
DNA
Prenatal Diagnosis
Haplotypes
Digestion
Complementary DNA
Parents
Phenotype
Mutation
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

ASJC Scopus subject areas

  • Endocrinology

Cite this

Nakura, J., Miki, T., Fukuchi, K. I., Shimizu, K., Nose, O., Takai, S., ... Kumahara, Y. (1987). Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency. Endocrinologia Japonica, 34(3), 373-379.

Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency. / Nakura, J.; Miki, T.; Fukuchi, K. I.; Shimizu, K.; Nose, O.; Takai, S.; White, P. C.; Honjo, T.; Kumahara, Y.

In: Endocrinologia Japonica, Vol. 34, No. 3, 1987, p. 373-379.

Research output: Contribution to journalArticle

Nakura, J, Miki, T, Fukuchi, KI, Shimizu, K, Nose, O, Takai, S, White, PC, Honjo, T & Kumahara, Y 1987, 'Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency', Endocrinologia Japonica, vol. 34, no. 3, pp. 373-379.
Nakura J, Miki T, Fukuchi KI, Shimizu K, Nose O, Takai S et al. Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency. Endocrinologia Japonica. 1987;34(3):373-379.
Nakura, J. ; Miki, T. ; Fukuchi, K. I. ; Shimizu, K. ; Nose, O. ; Takai, S. ; White, P. C. ; Honjo, T. ; Kumahara, Y. / Analysis of steroid 21-hydroxylase gene in five unrelated Japanese patients with 21-hydroxylase deficiency. In: Endocrinologia Japonica. 1987 ; Vol. 34, No. 3. pp. 373-379.
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