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Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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| Authors: | Phyllis W Speisere Maria I New Grace M Tannin Donald Pickering Soo Young Yang Perrin C White |
| Institution: | (1) Department of Pediatrics, The New York Hospital-Cornell Medical College, 525 East 68th Street, NY10021 New York, USA;(2) Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA;(3) Tissue Typing Laboratory, Memorial-Sloan Kettering Cancer Center, New York, N.Y., USA |
| Abstract: | Summary 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. |
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