Harteveld Cornelis L, Osborne Cameron S, Peters Marjolein, van der Werf Steffie, Plug Rob, Fraser Peter, Giordano Piero C
Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Br J Haematol. 2003 Sep;122(5):855-8. doi: 10.1046/j.1365-2141.2003.04505.x.
An adult autochthonous Dutch patient who had exhibited severe perinatal anaemia, with partial recovery a few months after birth, was studied for the presence of beta-thalassaemia. Southern blotting showed that the patient was heterozygous for a novel deletion in the beta-globin gene cluster, leaving the beta-gene intact. Inverse polymerase chain reaction was used to determine the breakpoint sequence. The deletion removed 112 kb starting upstream of the HOR5'b6 gene to the second intron of the Agamma-globin gene, including the locus control region. The breakpoint fragment identified a 13-bp orphan sequence not present at either side of the breakpoint.
一名成年荷兰本土患者出生时患有严重的围产期贫血，出生后几个月部分恢复，对其进行了β地中海贫血检测。Southern印迹法显示，该患者β珠蛋白基因簇存在一种新的缺失杂合子，β基因保持完整。采用反向聚合酶链反应确定断点序列。该缺失从HOR5'b6基因上游112 kb处开始，延伸至γ珠蛋白基因的第二个内含子，包括基因座控制区。断点片段鉴定出一个13 bp的孤儿序列，该序列在断点两侧均不存在。
