A method for rapid detection of arylsulfatase A pseudodeficiency mutations.
Hum Hered
; 45(4): 235-40, 1995.
Article
en En
| MEDLINE
| ID: mdl-7558057
ABSTRACT
Pseudodeficiency of arylsulfatase A is a complicating factor in the determination of metachromatic leukodystrophy risk and carrier status. A method using polymerase chain reaction and restriction enzyme digestion to detect the presence of both the mutations that contribute to arylsulfatase A pseudodeficiency is described using DNA from blood or buccal cells. Application of this technique should facilitate determination of metachromatic leukodystrophy status and counseling in families where the pseudodeficiency allele is present.
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Bases de datos:
MEDLINE
Asunto principal:
Cerebrósido Sulfatasa
/
Mutación Puntual
/
Leucodistrofia Metacromática
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Hum Hered
Año:
1995
Tipo del documento:
Article
País de afiliación:
Estados Unidos