Prenatal diagnosis of inherited hemoglobinopathies.

Article

Prenatal diagnosis of inherited hemoglobinopathies.

Recenti progressi in medicina - 1 Apr 1992

Cao A, Leoni G B, Sardu R, Pischedda M C, Saba L

Abstract excerpt

This paper reviews the techniques presently available for the prenatal diagnosis of inherited hemoglobinopathies. At the present time, mutations of the globin genes are detected directly in trophoblast DNA, enzymatically amplified by polymerase chain reaction. Known mutations may be defined by re...

Topics

DNA
Female
Gene Amplification
Hemoglobinopathies
Humans
Mutation
Pregnancy
Prenatal Diagnosis

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