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De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

✍ Scribed by Waye, John S.; Eng, Barry; Patterson, Margaret; Barr, Ronald D.; Chui, David H. K.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
74 KB
Volume
56
Category
Article
ISSN
0361-8609

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✦ Synopsis

We present a case of ␤-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the ␤-globin gene initiation codon (ATG→AAG) which should give rise to ␤°-thalassemia trait. The possibility of non-paternity was excluded, indicating that the novel mutation was the result of a de novo event. A review of the literature indicates that mutations involving the ␤-globin gene initiation codon can give rise to a more severe phenotype than is generally associated with most other ␤ + or ␤°mutations.

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Initiation codon mutation (ATG → ATA) of the β-globin gene causing β-thalassemia in a Swedish family
✍ Dr. Britta Landin; Olle Rudolphi; BÖRje Ek 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 436 KB 👁 1 views

An initiation codon mutation ATG-ATA of the p-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a p