Abstract
Worldwide, the salt-losing form of CAH (210H Def) has been reported to have the highest known prevalence in Yupik speaking Alaskan Eskimos. The annual incidence is 1/490 with an estimated gene frequency of .045. We analyzed the HLA phenotypes and inferred genotypes in 11 Eskimo children with CAH, representing 7 families. All CAH children had at least one HLA-B27 allele (6 homozygotes), at least one HLA-C4 allele, and all were homozygous HLA-DR4. HLA types obtained on 118 healthy Eskimo controls showed significantly different frequencies for these alleles:
The inferred haplotypes which carry the 210H Def gene include A24 B27 C4 DR4 and A2 B27 C2 DR4, plus A28 B61 C3 DR4, which occurs in, only one family. The three haplotypes combined occur in .076 of the controls, a frequency only slightly greater than expected for CAH heterozygotes based on the observed CAH disease incidence, implying that most Yupik Eskimos with these haplotypes are heterozygous for 210H Def. These results differ markedly from other HLA population studies, suggesting that the 210H Def gene in Yupik Eskimos occurred by an independent mutational event.
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Petersen, G., MacCracken, J., Rotter, J. et al. EVIDENCE FOR INDEPENDENT MUTATION OF THE 21-HYDROXYLASE DEFICIENCY (210H DEF) GENE IN ALASKAN ESKIMOS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH). Pediatr Res 18 (Suppl 4), 173 (1984). https://doi.org/10.1203/00006450-198404001-00480
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DOI: https://doi.org/10.1203/00006450-198404001-00480