Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Phyllis W. Speisere, Maria I. New, Grace M. Tannin, Donald Pickering, Soo Young Yang, Perrin C. White

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population.

Original languageEnglish (US)
Pages (from-to)647-648
Number of pages2
JournalHuman Genetics
Volume88
Issue number6
DOIs
StatePublished - Mar 1992

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Inuits
Steroid 21-Hydroxylase
Prenatal Diagnosis
Introns
Salts
Alleles
Genotype
Mutation
Population
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. / Speisere, Phyllis W.; New, Maria I.; Tannin, Grace M.; Pickering, Donald; Yang, Soo Young; White, Perrin C.

In: Human Genetics, Vol. 88, No. 6, 03.1992, p. 647-648.

Research output: Contribution to journalArticle

Speisere, Phyllis W. ; New, Maria I. ; Tannin, Grace M. ; Pickering, Donald ; Yang, Soo Young ; White, Perrin C. / Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In: Human Genetics. 1992 ; Vol. 88, No. 6. pp. 647-648.
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