Genetic diseases: diagnosis by restriction endonuclease analysis.
J Pediatr
; 100(6): 845-56, 1982 Jun.
Article
em En
| MEDLINE
| ID: mdl-6283049
We have summarized a number of different genetic disorders which can be diagnosed at the DNA level using restriction endonuclease fragment analysis. A whole spectrum of defects can be recognized: point mutations, deletions, additions, and crossing-over products or hybrid genes. These same restriction endonuclease techniques can enable different genes to be marked by polymorphism patterns. Thus, abnormal genes can be identified even if their exact DNA lesion is unknown or cannot be directly detected. The progress that has been made with the hemoglobinopathies and the experience from this group of single gene disorders should find application to other diseases as soon as specific probes become available.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
DNA
/
Enzimas de Restrição do DNA
/
Hemoglobinopatias
/
Doenças Genéticas Inatas
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1982
Tipo de documento:
Article
País de publicação:
Estados Unidos