Prenatal Diagnosis of β-Thalassemia: Detection of a Single Nucleotide Mutation in DNA

We investigated a method employing synthetic oligonucleotides for the prenatal diagnosis of β-thalassemia due to a single nucleotide mutation. The β 0 thalassemia we tested is produced by a nonsense mutation and is commonly found in Sardinia and other parts of the Mediterranean. In this DNA lesion,...

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Veröffentlicht in:	The New England journal of medicine 1983-08, Vol.309 (5), p.284-287
Hauptverfasser:	Pirastu, Mario, Kan, Yuet Wai, Cao, Antonio, Conner, Brenda J, Teplitz, Raymond L, Wallace, R. Bruce
Format:	Artikel
Sprache:	eng
Schlagworte:	Amniocentesis Codon DNA - genetics Female Globins - biosynthesis Humans Mutation Nucleic Acid Hybridization Nucleotides - genetics Pregnancy Prenatal Diagnosis - methods Thalassemia - diagnosis Thalassemia - genetics
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