Meszaros K, Willinger U, Heiden A M, Fuchs K, Baumhackl U, Brücke T, Feucht M, Fathi N, Lenzinger E, Miller E
Abteilung für Allgemeine Psychiatrie, Universitätsklinik für Psychiatrie, Wien.
Wien Klin Wochenschr. 1994;106(21):671-2.
In March 1993 the gene IT 15 was identified on chromosome 4p and it was demonstrated that it contained an unstable (CAG)n trinucleotide repeat that is elongated in patients with Huntington's chorea (HC). Persons with more than 37 (CAG)n repeats tend to have a higher risk of developing the disease. Testing the (CAG)n repeats in Austrian HC patients with PCR techniques shows correspondence between the clinical diagnosis of HC and genotypes [more than 42 (CAG)n repeats]. There was a weak correlation between the number of (CAG)n repeats and age of onset, however, this finding is without diagnostic value due to the scatter of the values.
1993年3月，IT 15基因在4号染色体短臂上被鉴定出来，并且证实它含有一个不稳定的（CAG）n三核苷酸重复序列，该序列在亨廷顿舞蹈病（HC）患者中会延长。拥有超过37个（CAG）n重复序列的人患该病的风险往往更高。用聚合酶链反应（PCR）技术检测奥地利HC患者的（CAG）n重复序列，结果显示HC的临床诊断与基因型[超过42个（CAG）n重复序列]之间存在对应关系。（CAG）n重复序列的数量与发病年龄之间存在微弱的相关性，然而，由于这些数值的离散性，这一发现没有诊断价值。
