Martorell L, Pujana M A, Volpini V, Sanchez A, Joven J, Vilella E, Estivill X
Departament de Formació i Investigació, Hospital Psiquiàtric Universitari Institut Pere Mata, Reus, Spain.
Hum Mutat. 1997;10(6):486-8. doi: 10.1002/(SICI)1098-1004(1997)10:6<486::AID-HUMU11>3.0.CO;2-W.
The repeat expansion detection (RED) method was described to detect expansions of trinucleotide repeats of unknown chromosomal location. We have improved the RED method by the use of 8-mer oligonucleotides and assessed its usefulness in 30 samples from patients with spinocerebellar ataxia type 1 (SCA1), Huntington's disease (HD), and Machado Joseph's disease (MJD), for which the number of CAG/CTG repeats was determined by sequencing. There was a good correlation between the number of repeats detected by sequencing and those identified by RED. However, in 17% of samples, the RED gave additional fragments for ligation products of different size than the CAG/CTG repeat expansion detected in the sample by sequencing. The same was observed in a group of control subjects (n = 78) without known clinical abnormalities in which products of more than 40 repeats were detected in 27% of them, indicating that CAG/CTG repeat expansions are common in the general population. Wether this corresponds to unidentified loci with expansions deserves further investigation.
重复序列扩增检测（RED）方法被用于检测未知染色体位置的三核苷酸重复序列的扩增情况。我们通过使用8聚体寡核苷酸改进了RED方法，并在30例来自1型脊髓小脑共济失调（SCA1）、亨廷顿舞蹈症（HD）和马查多-约瑟夫病（MJD）患者的样本中评估了该方法的实用性，这些样本中CAG/CTG重复序列的数量通过测序确定。测序检测到的重复序列数量与RED鉴定出的重复序列数量之间存在良好的相关性。然而，在17%的样本中，RED产生了与测序检测到的样本中CAG/CTG重复序列扩增不同大小的连接产物的额外片段。在一组无已知临床异常的对照受试者（n = 78）中也观察到同样的情况，其中27%的受试者检测到超过40次重复的产物，这表明CAG/CTG重复序列扩增在普通人群中很常见。这是否对应于未鉴定的具有扩增的基因座值得进一步研究。
