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A possible example of gene conversion with a common β-thalassemia mutation and Chi sequence present in the β-globin gene

✍ Scribed by Youko Matsuno; Yasuhiro Yamashiro; Kunimitsu Yamamoto; Yukio Hattori; Kiyomi Yamamoto; Yuzo Ohba; Takaoki Miyaji

Publisher
Springer
Year
1992
Tongue
English
Weight
171 KB
Volume
88
Category
Article
ISSN
0340-6717

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✦ Synopsis

Thalassemia is a heterozygous inherited disorder of [3globin synthesis lying cis to the defective [3-globin gene. Over 100 thalassemia mutations have been characterized in various ethnic groups and the same mutations have been observed in different ethnic groups. The haplotypes (HT) and [3-globin gene frameworks (FW) of the thalassemia chromosomes provide useful information on the origin of a particular mutation.

A frameshift mutation in codon 41 and 42, the most common [~-thalassemia mutation in South China and south-east Asia, was found in 6 families in Japan (Hattori et al. 1989). The thalassemia chromosomes had the HTs and [3-globin gene FWs common to those of Chinese and south-east Asians (HTla/FW2 and HT2/FW3 Asian), suggesting that the mutant gene might have come from

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