Heterozygote detection in Hunter syndrome.
Iduronate sulfate sulfatase activity was determined in 36 women, relatives of Hunter syndrome patients. The use of serum and lymphocyte extracts for the determination of enzyme levels enabled the detection of 13 out of 15 (86%) obligate heterozygotes and identification of 10 of 21 other relatives as carriers. These methods are relatively simple and can easily be applied for routine examinations of all women at risk of being a Hunter heterozygote. These results permit for the first time meaningful genetic counseling for the families of Hunter patients.
D000328:Adult; D000368:Aged; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000097:blood*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D012306:Risk; D013429:Sulfatases / Q000097:blood*
D013429:Sulfatases; D007066:Iduronate Sulfatase