Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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.
Speiser
P W
PW
Department of Pediatrics, New York Hospital-Cornell Medical College, New York 10021.
New
M I
MI
Tannin
G M
GM
Pickering
D
D
Yang
S Y
SY
White
P C
PC
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000276:immunology; D006801:Humans; D004930:Inuit / Q000235:genetics*; D008297:Male; D009154:Mutation; D015345:Oligonucleotide Probes
D006680:HLA Antigens; D015345:Oligonucleotide Probes