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Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion

✍ Scribed by Barry Eng; David H. K. Chui; Janet Saunderson; Nancy F. Olivieri; John S. Waye

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
467 KB
Volume
2
Category
Article
ISSN
1059-7794

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✦ Synopsis

The frequency of P-thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations represented in this population. Here, we describe a Filipino family in which a child has severe P-thalassemia major. Molecular studies of the family revealed that the proband is a compound heterozygote for two previously unreported Po-thalassemia alleles: a frameshift mutation (-TG) at codon 67 and a deletion of the entire P-globin gene. The 5' endpoint of this novel deletion is located -3.9 kb to -4.3 kb upstream of P-globin gene, and the deletion extends 3' beyond the P-globin gene for an undetermined distance. The occurrence of two novel P-thalassemia alleles in a single family suggests that the Filipino population may have a unique spectrum of P-thalassemia alleles.

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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