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

Hum Genet. 1992 Mar;88(6):647-8. doi: 10.1007/BF02265290.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adrenal Hyperplasia, Congenital* / enzymology
  • Adrenal Hyperplasia, Congenital* / genetics*
  • Adrenal Hyperplasia, Congenital* / immunology
  • Female
  • Genotype
  • HLA Antigens / immunology
  • Humans
  • Inuit / genetics*
  • Male
  • Mutation
  • Oligonucleotide Probes

Substances

  • HLA Antigens
  • Oligonucleotide Probes