Pirastu M, Galanello R, Doherty M A, Tuveri T, Cao A, Kan Y W
Proc Natl Acad Sci U S A. 1987 May;84(9):2882-5. doi: 10.1073/pnas.84.9.2882.
The predominant beta-thalassemia in Sardinia is the beta 0 type in which no beta-globin chains are synthesized in the homozygous state. We determined the beta-thalassemia mutations in this population by the oligonucleotide-probe method and defined the chromosome haplotypes on which the mutation resides. The same beta 39(CAG----TAG) nonsense mutation was found on nine different chromosome haplotypes. Although this mutation may have arisen more than once, the multiple haplotypes could also be generated by crossing over and gene conversion events. These findings underscore the frequency of mutational events in the beta-globin gene region.
撒丁岛主要的β地中海贫血类型是β0型，在纯合状态下不合成β珠蛋白链。我们通过寡核苷酸探针法确定了该人群中的β地中海贫血突变，并确定了突变所在的染色体单倍型。在九种不同的染色体单倍型上发现了相同的β39（CAG→TAG）无义突变。虽然这种突变可能不止一次出现，但多个单倍型也可能是由交叉和基因转换事件产生的。这些发现强调了β珠蛋白基因区域突变事件的频率。
