Heterozygote detection in Hunter syndrome.
Am J Med Genet
; 17(3): 661-5, 1984 Mar.
Article
em En
| MEDLINE
| ID: mdl-6424473
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sulfatases
/
Mucopolissacaridose II
/
Heterozigoto
/
Triagem de Portadores Genéticos
/
Iduronato Sulfatase
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
1984
Tipo de documento:
Article