Donald J A, Lammi A, Trent R J
Clinical Immunology Research Centre, University of Sydney, N.S.W. Australia.
Hum Genet. 1988 Sep;80(1):69-74. doi: 10.1007/BF00451459.
Some types of nondeletional heterocellular hereditary persistence of fetal hemoglobin (HPFH) appear to be caused by mutations in the beta globin gene cluster near the gamma globin genes, while in other cases the condition is associated with a gene or genes outside the beta globin gene complex. We have used DNA probes for chromosome 11 markers to localize the HPFH determinant in a large Australian kindred with nondeletional heterocellular HPFH. In 13 of the 58 family members studied the Hb F levels are increased to between 1.8% and 7.9%, the Hb F being composed predominantly of A gamma chains. All family members were typed for restriction fragment length polymorphisms detected by probes from the beta globin gene complex, and the nearby genetic markers D11S12, INS, and HRAS. Linkage analysis showed HPFH is closely linked to the beta globin gene cluster (confidence limits of theta, 0.0-0.19), D11S12 (theta, 0.0-0.23) and the insulin gene (theta, 0.0-0.11). These data and the gamma chain composition are consistent with HPFH in this family being caused by a mutation within the beta globin gene cluster.
某些类型的非缺失性异细胞遗传性胎儿血红蛋白持续存在（HPFH）似乎是由γ珠蛋白基因附近的β珠蛋白基因簇中的突变引起的，而在其他情况下，这种情况与β珠蛋白基因复合体之外的一个或多个基因有关。我们使用了11号染色体标记的DNA探针，将HPFH决定因素定位在一个患有非缺失性异细胞HPFH的大型澳大利亚家族中。在研究的58名家族成员中，有13人的Hb F水平升高至1.8%至7.9%之间，Hb F主要由Aγ链组成。所有家族成员都针对由β珠蛋白基因复合体的探针以及附近的遗传标记D11S12、胰岛素基因（INS）和哈-柔二氏肉瘤病毒基因（HRAS）检测到的限制性片段长度多态性进行了分型。连锁分析表明，HPFH与β珠蛋白基因簇（θ的置信区间为0.0 - 0.19）、D11S12（θ，0.0 - 0.23）和胰岛素基因（θ，0.0 - 0.11）紧密连锁。这些数据以及γ链组成与该家族中HPFH由β珠蛋白基因簇内的突变引起是一致的。
