Gianni A M, Bregni M, Cappellini M D, Fiorelli G, Taramelli R, Giglioni B, Comi P, Ottolenghi S
EMBO J. 1983;2(6):921-5. doi: 10.1002/j.1460-2075.1983.tb01522.x.
The possible linkage between a gene causing heterocellular hereditary persistence of fetal hemoglobin (HPFH) and human non-alpha globin loci has been studied in a large Sardinian family. In this family a homozygous beta o-thalassemic patient was found, with an unusually mild form of this disease, which was ascribed to the co-existence of a gene causing heterocellular HPFH. DNA polymorphisms in the non-alpha globin cluster were analyzed by restriction enzyme digestion with HincII, HindIII and BamHI and with epsilon-, gamma-and beta-globin probes; the pattern of inheritance of these polymorphisms indicates that the HPFH gene is transmitted with one beta o-thalassemic gene in a single instance, with the second beta o-thalassemic gene in three instances and with a normal beta-globin gene in two cases. These data indicate that this HPFH gene is not linked to the non-alpha globin gene cluster, in contrast to previous observations with different HPFH genes, and suggest that this gene might code for diffusible substances acting, directly or indirectly, on gamma-globin gene expression.
在一个庞大的撒丁岛家族中，对导致胎儿血红蛋白（HPFH）异细胞遗传性持续存在的基因与人类非α珠蛋白基因座之间可能存在的联系进行了研究。在这个家族中，发现了一名纯合子β⁰地中海贫血患者，其病情异常轻微，这归因于一个导致异细胞HPFH的基因的共存。通过用HincII、HindIII和BamHI以及ε-、γ-和β-珠蛋白探针进行限制性酶切分析非α珠蛋白簇中的DNA多态性；这些多态性的遗传模式表明，HPFH基因在一个实例中与一个β⁰地中海贫血基因一起传递，在三个实例中与第二个β⁰地中海贫血基因一起传递，在两个案例中与一个正常的β珠蛋白基因一起传递。这些数据表明，与之前对不同HPFH基因的观察结果相反，这个HPFH基因与非α珠蛋白基因簇没有连锁关系，并表明该基因可能编码直接或间接作用于γ珠蛋白基因表达的可扩散物质。
