Flint J, Rochette J, Craddock C F, Dodé C, Vignes B, Horsley S W, Kearney L, Buckle V J, Ayyub H, Higgs D R
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
Hum Mol Genet. 1996 Aug;5(8):1163-9. doi: 10.1093/hmg/5.8.1163.
We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only approximately 105 kb from the 16p subtelomeric region. The broken chromosome has been stabilised with a newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element of the Sx subfamily. It seems most likely that this abnormal chromosome has been rescued by the mechanism of telomere capture which may reflect a more general process by which subtelomeric sequences are normally dispersed between chromosomal ends.
我们已经鉴定出一种涉及16号染色体短臂的亚端粒重排，该重排通过缺失控制α-珠蛋白表达的主要远端调控元件而导致α-地中海贫血。染色体断点位于一个Alu家族重复序列中，该重复序列距离16p亚端粒区域仅约105 kb。断裂的染色体通过16p Alu元件与Sx亚家族密切相关的亚端粒Alu元件之间的重组获得的新定位端粒而得以稳定。看起来最有可能的是，这条异常染色体是通过端粒捕获机制挽救的，这可能反映了一个更普遍的过程，即亚端粒序列通常在染色体末端之间分散。
