Peake I R, Furlong B L, Bloom A L
Lancet. 1984 Feb 4;1(8371):242-3. doi: 10.1016/s0140-6736(84)90123-5.
DNA from a patient with severe factor IX deficiency (haemophilia B) in whom an inhibitor to factor IX had developed was studied with four genomic gene probes specific for the factor IX gene. All gave a negative result, indicating at least a partial gene deletion. Eight female relatives, covering four generations, were also studied. Restriction-enzyme-fragmented DNA was probed in each case and the level of binding assessed by darkening of the autoradiograph. The DNA of this patient's sister and mother had reduced signals, when compared with that of normal female subjects, indicating the presence of the defective gene. However, the other six female subjects (grandmother, great-grandmother, maternal aunt, and three female cousins) had normal signals. Levels of factor IX and factor IX antigen were also normal in these subjects. By direct gene analysis in this family, the point of mutation has been identified (mother) and diagnosis of the sister as a carrier confirmed.
利用针对因子IX基因的四种基因组基因探针，对一名患有严重因子IX缺乏症（B型血友病）且已产生因子IX抑制剂的患者的DNA进行了研究。所有结果均为阴性，表明至少存在部分基因缺失。还对涵盖四代人的八位女性亲属进行了研究。在每种情况下，均对经限制性内切酶切割的DNA进行探针检测，并通过放射自显影片的黑化程度评估结合水平。与正常女性受试者相比，该患者的姐姐和母亲的DNA信号减弱，表明存在缺陷基因。然而，其他六位女性受试者（祖母、曾祖母、姨妈和三位表姐妹）的信号正常。这些受试者的因子IX和因子IX抗原水平也正常。通过对这个家族进行直接基因分析，已确定突变位点（母亲），并证实其姐姐为携带者。
