胎儿血红蛋白遗传性持续存在（HPFH）中珠蛋白基因缺失的物理图谱分析。

Bernards R, Flavell R A

Nucleic Acids Res. 1980 Apr 11;8(7):1521-34. doi: 10.1093/nar/8.7.1521.

We have mapped the globin gene region in the DNA of two HPFH patients. In a patient homozygous for the G gamma A gamma type of HPFH at least 24 kb of DNA in the globin gene region has been deleted to remove most of the gamma-delta intergenic region and the delta and beta globin genes. The 5' break point of the deletion is located about 9 kb upstream from the delta globin gene. The 3' break point has not been precisely located but is at least 7 kb past the beta globin gene. DNA from an individual heterozygous for the Greek (A gamma) type of HPFH, however, shows no detectable deletion in the entire gamma delta beta-globin gene region. HPFH, therefore, appears to occur in different molecular forms. These results are discussed in terms of a model for the regulation of globin gene expression in man.

我们已经绘制了两名遗传性胎儿血红蛋白持续存在症（HPFH）患者DNA中的珠蛋白基因区域图谱。在一名GγAγ型HPFH纯合子患者中，珠蛋白基因区域至少24 kb的DNA被删除，以去除大部分γ-δ基因间区域以及δ和β珠蛋白基因。缺失的5'断点位于δ珠蛋白基因上游约9 kb处。3'断点尚未精确定位，但至少在β珠蛋白基因下游7 kb处。然而，一名希腊（Aγ）型HPFH杂合子个体的DNA在整个γδβ珠蛋白基因区域未显示出可检测到的缺失。因此，HPFH似乎以不同的分子形式出现。根据人类珠蛋白基因表达调控模型对这些结果进行了讨论。