A novel εγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient
A novel εγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient
复制标题
DOI：
10.1002/ajh.21040
复制
发表时间：
2008-01-01
影响因子：
12.8
通讯作者：
Horibe, Kelzou
中科院分区：
文献类型：
--
作者：
Furuya, Chiemi;Yamashiro, Yasuhiro;Horibe, Kelzou
在一名6岁的日本男孩中发现了一种新的大缺失，导致γ-γ-δ-β地中海贫血（这里称为γ-γ-δ-β-地中海贫血Jpn-1）。他出生时平安无事，但出生后发现地中海贫血症轻微。这种突变是从他母亲那里遗传来的。该缺失是由e-珠蛋白基因上游750 kb至下游660 kb的不合理重组引起的，并去除了约1.4 Mb的DNA，这是α-γ-δ-β地中海贫血中最大的。一个19个核苷酸的孤儿序列和直接重复出现在交界处。缺失丢失了几个功能基因，但没有表现出相关症状。通过相对简单的方法确定折点。
A novel large deletion, causing epsilon gamma delta beta thalassemia (here called, epsilon gamma delta beta thalassemia Jpn-1) was discovered in a 6-year-old Japanese boy. He was born uneventfully, but revealed thalassemia minor after birth. The mutation was inherited from his mother. The deletion, caused by an illegitimate recombination extended from 750 kb upstream to 660 kb downstream of e-globin gene, and removed about 1.4 Mb of DNA, the largest in epsilon gamma delta beta thalassemias. A 19-nucleotide orphan sequence and direct repeats were present at the junction. The deletion lost several functional genes, but no relevant symptoms manifested. The breakpoints were determined by relatively simple methods.