Nicholls R D, Jonasson J A, McGee J O, Patil S, Ionasescu V V, Weatherall D J, Higgs D R
J Med Genet. 1987 Jan;24(1):39-46. doi: 10.1136/jmg.24.1.39.
A combination of polymorphic DNA markers, cytogenetic analysis, and in situ hybridisation has been used for the high resolution assignment of the human alpha globin gene cluster on chromosome 16. Multiallelic DNA probes from within the alpha globin cluster were used to determine the number of copies of this locus in three cell lines containing trisomies of the short arm of chromosome 16 and one with a familial inversion, inv(16). The breakpoints in these rearrangements flank the alpha globin locus and locate a shortest region of overlap to 16p13.1. A meiotic crossover was also localised to this band. In situ hybridisation of biotinylated DNA probes to normal and inverted chromosomes 16 [inv(16)(p13.1;q22)] showed hybridisation sites at opposite ends of the chromosomes, consistent with this regional localisation.
多态性DNA标记、细胞遗传学分析和原位杂交相结合已被用于人类16号染色体上α珠蛋白基因簇的高分辨率定位。来自α珠蛋白基因簇内的多等位基因DNA探针被用于确定在三个含有16号染色体短臂三体的细胞系以及一个具有家族性倒位inv(16)的细胞系中该基因座的拷贝数。这些重排中的断点位于α珠蛋白基因座两侧，并将最短重叠区域定位到16p13.1。一次减数分裂交叉也定位于此带。生物素化DNA探针与正常和倒位的16号染色体[inv(16)(p13.1;q22)]的原位杂交显示杂交位点位于染色体的两端，与该区域定位一致。
