The patient with combined deficiency of neuraminidase and 21-hydroxylase

F. Harada, Y. Nishimura, K. Suzuki, H. Matsumoto, T. Oohira, I. Matsuda, Takehiko Sasazuki

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

To investigate the possibility that delection en bloc in the HLA region had caused the combined deficiency of neuraminidase and 21-hydroxylase in a female patient, genetic markers on the short arm of chromosome 6 were examined in the patient and her parents, and 21-hydroxylase genes of the patient were analyzed by the Southern blot technique. The affected "extended haplotype" identical by descent might have been recombined at two sites, between HLA-A and C and between HLA-DQ and GLO. This suggests that the neuraminidase gene is mapped between HLA-A and GLO. Southern blot analysis revealed the existence of two 21-hydroxylase genes, so that we found no evidence to support the possibility that deletion en bloc in the HLA class III region had caused the combined deficiency of neuraminidase and 21-hydroxylase.

Original languageEnglish
Pages (from-to)91-92
Number of pages2
JournalHuman Genetics
Volume75
Issue number1
DOIs
Publication statusPublished - Jan 1 1987

Fingerprint

Steroid 21-Hydroxylase
HLA-A Antigens
Southern Blotting
HLA-C Antigens
Genes
HLA-DQ Antigens
Chromosomes, Human, Pair 6
Neuraminidase
Genetic Markers
Haplotypes
Parents
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Harada, F., Nishimura, Y., Suzuki, K., Matsumoto, H., Oohira, T., Matsuda, I., & Sasazuki, T. (1987). The patient with combined deficiency of neuraminidase and 21-hydroxylase. Human Genetics, 75(1), 91-92. https://doi.org/10.1007/BF00273850

The patient with combined deficiency of neuraminidase and 21-hydroxylase. / Harada, F.; Nishimura, Y.; Suzuki, K.; Matsumoto, H.; Oohira, T.; Matsuda, I.; Sasazuki, Takehiko.

In: Human Genetics, Vol. 75, No. 1, 01.01.1987, p. 91-92.

Research output: Contribution to journalArticle

Harada, F, Nishimura, Y, Suzuki, K, Matsumoto, H, Oohira, T, Matsuda, I & Sasazuki, T 1987, 'The patient with combined deficiency of neuraminidase and 21-hydroxylase', Human Genetics, vol. 75, no. 1, pp. 91-92. https://doi.org/10.1007/BF00273850
Harada F, Nishimura Y, Suzuki K, Matsumoto H, Oohira T, Matsuda I et al. The patient with combined deficiency of neuraminidase and 21-hydroxylase. Human Genetics. 1987 Jan 1;75(1):91-92. https://doi.org/10.1007/BF00273850
Harada, F. ; Nishimura, Y. ; Suzuki, K. ; Matsumoto, H. ; Oohira, T. ; Matsuda, I. ; Sasazuki, Takehiko. / The patient with combined deficiency of neuraminidase and 21-hydroxylase. In: Human Genetics. 1987 ; Vol. 75, No. 1. pp. 91-92.
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