Genetic diseases: Diagnosis by restriction endonuclease analysis

Stylianos E. Antonarakis, John A. Phillips, Haig H. Kazazian

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)845-856
Number of pages12
JournalThe Journal of pediatrics
Volume100
Issue number6
DOIs
StatePublished - Jun 1982
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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