Phillips J A, Vik T A, Scott A F, Young K E, Kazazian H H, Smith K D, Fairbanks V F, Koenig H M
Blood. 1980 Jun;55(6):1066-9.
The alpha-globin genes of five black Americans, two Chinese, and five Filipinos with HbH disease (an alpha-thalassemia state in which there is a single functional alpha gene) were analyzed by restriction endonuclease techniques. All subjects were found to have one chromosome 16, lacking both alpha genes, and another containing a single alpha gene (--/-alpha). Restriction endonuclease patterns of the DNA obtained from all 12 subjects were identical and compatible with unequal crossing-over as the mechanism of origin of the single alpha gene in these individuals.
运用限制性内切酶技术,对5名患有HbH病(一种α地中海贫血症状态,只有一个功能性α基因)的美国黑人、2名中国人和5名菲律宾人的α珠蛋白基因进行了分析。结果发现,所有受试者均有一条16号染色体缺失两个α基因,另一条含有单个α基因(--/-α)。从所有12名受试者身上获取的DNA的限制性内切酶图谱完全相同,这与不等交换作为这些个体中单个α基因起源机制的情况相符。