Tóth T, Németi M, Papp Z
Semmelweis Orvostudományi Egyetem, Budapest.
Orv Hetil. 1996 Mar 3;137(9):451-4.
The authors are reporting on the presymptomatic diagnosis of the autosomal dominant Huntington's disease applying the polymerase chain reaction for the first time in Hungary. The detection of the products yielded by polymerase chain reaction was carried out by silver stained polyacrylamide gel. This silver staining gave appropriate result without using radioactive technique. Cause of the disease is the greater number of CAG repeat sequence in the region of the Huntington's disease gene. The number of CAG repeats in Huntington patients is more than 37, while in not affected persons it is less than 34. Four members of two families each were examined and presymptomatic diagnoses were performed in two cases of both families. Normal alleles were detected in all cases. The tests supported the diagnoses of these patients suffering of clinically proved Huntington's disease.
作者首次在匈牙利报道了应用聚合酶链反应对常染色体显性遗传性亨廷顿舞蹈病进行症状前诊断。聚合酶链反应产生的产物检测是通过银染聚丙烯酰胺凝胶进行的。这种银染在不使用放射性技术的情况下给出了合适的结果。该疾病的病因是亨廷顿舞蹈病基因区域中CAG重复序列数量较多。亨廷顿病患者的CAG重复数超过37，而未受影响者则少于34。对两个家庭的四名成员进行了检查，两个家庭各有两例进行了症状前诊断。所有病例均检测到正常等位基因。这些检测支持了这些临床确诊为亨廷顿舞蹈病患者的诊断。
