Gene probes

Application to prenatal and postnatal diagnosis of genetic disease

Research output: Contribution to journalArticle

Abstract

Gene probes can now be used to detect a variety of mutations that produced single-gene disorders. In present clinical practice, restriction endonuclease analysis is used for the prenatal diagnosis of sickle cell anemia, α-thalassemia, and β-thalassemia. Direct detection of the mutation is possible in α-thalassemia, where a deletion has usually occurred, and in sickle cell anemia, where the mutation alters the recognition sequence of the restriction endonuclease, Mst II. Indirect detection of β-thalassemia is based on using normal variations in DNA (DNA polymorphisms) to track normal and affected β-globin genes in families. This latter kind of analysis is also useful in detecting the phenylalanine hydroxylase genes affected in phenylketonuria and will often be used in disorders where the mutations are unknown. In cases where the mutation is known direct analysis by use of oligonucleotide probes is a new and important advance. An example of this type of gene detection in a family with classical hemophilia is presented. In addition, with chorion villus biopsy, detection of these inherited diseases is feasible by the 12th week of pregnancy.

Original languageEnglish (US)
Pages (from-to)1509-1513
Number of pages5
JournalClinical Chemistry
Volume31
Issue number9
StatePublished - 1985

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Inborn Genetic Diseases
Prenatal Diagnosis
Thalassemia
Genes
Mutation
DNA Restriction Enzymes
Sickle Cell Anemia
Phenylalanine Hydroxylase
Chorion
Phenylketonurias
Globins
Oligonucleotide Probes
Biopsy
DNA
Hemophilia A
Polymorphism
Pregnancy

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Gene probes : Application to prenatal and postnatal diagnosis of genetic disease. / Kazazian, Haig.

In: Clinical Chemistry, Vol. 31, No. 9, 1985, p. 1509-1513.

Research output: Contribution to journalArticle

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