Benitez J, Robledo M, Ramos C, Ayuso C, Astarloa R, Garcia Yébenes J, Brambati B
Department of Genetics, Fundación Jimenez Díaz, Madrid, Spain.
Hum Genet. 1995 Aug;96(2):229-32. doi: 10.1007/BF00207386.
We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.
我们研究了两名患有亨廷顿舞蹈症（HD）的患病胎儿的不同组织。在第一个病例中，分析是在怀孕11周时进行的；将来自七个不同组织的CAG重复序列与绒毛膜绒毛样本（CVS）中获得的结果进行了比较。我们在所有样本中均发现了42个CAG重复序列。在第二个病例中，研究是在怀孕12周时进行的；对八个组织（包括大脑）进行了研究，并与CVS进行了比较；在所有这些组织中，均获得了44个CAG重复序列。我们的结果显示了不同分析组织中的体细胞稳定性，并表明有丝分裂不稳定性可能是神经元变性和胶质增生的次要后果。同样，我们的数据表明，使用来自任何组织的样本对亨廷顿舞蹈症进行产前诊断（PD）具有很高的可行性。
