𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A common Chinese β-thalassemia mutation found in a Japanese family

✍ Scribed by Yuji Naritomi; Hitoshi Nakashima; Masaaki Kagimoto; Yasushi Naito; Eisuke Yokota; Takashi Imamura

Publisher
Springer
Year
1990
Tongue
English
Weight
284 KB
Volume
84
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

We have identified the substitution of a thymine for a cytosine at nucleotide position 654 in the second intron of the [3-globin gene that causes [3-thalassemia in a Japanese family. This mutation was reported to occur rather frequently in patients of Chinese origin, but has rarely been found in other ethnic groups.

📜 SIMILAR VOLUMES

A new frameshift β°-thalassemia mutation
A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family
✍ Shiping Cai; David H. K. Chui; Judy Ng; Annette O. Poon; Melvin H. Freedman; Dr. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

A new pthalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSll-654 C+T p"-thalassemia mutation, has the phenotype of severe p-thalassemia major.

Initiation codon mutation (ATG → ATA) of
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