Jedele K B, Wahl D, Chahrokh-Zadeh S, Wirtz A, Murken J, Holinski-Feder E
Department of Medical Genetics, University of Munich, Germany.
Clin Genet. 1998 Aug;54(2):148-51. doi: 10.1111/j.1399-0004.1998.tb03718.x.
Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron degenerative disease caused by an expanded trinucleotide repeat. Unlike most other trinucleotide repeat diseases, SBMA shows limited meiotic instability, and evidence thus far indicates absence of somatic instability in adults. Data regarding the presence of fetal tissue somatic mosaicism is unavailable. We present a family in which a woman whose father had SBMA requested prenatal testing. After informed consent. molecular genetic evaluation showed the male fetus to carry the SBMA repeat elongation. Testing of fetal tissues after elective pregnancy termination showed no somatic mosaicism in the CAG repeat length. This is the first report of molecular genetic analysis of multiple tissues in an affected fetus, and only the second report of prenatal diagnosis in SBMA.
脊髓延髓性肌萎缩症（SBMA）是一种由三核苷酸重复序列扩增引起的罕见的X连锁运动神经元退行性疾病。与大多数其他三核苷酸重复序列疾病不同，SBMA表现出有限的减数分裂不稳定性，并且迄今为止的证据表明成年人不存在体细胞不稳定性。关于胎儿组织体细胞嵌合现象的存在的数据尚不可用。我们报告了一个家庭，其中一名父亲患有SBMA的女性要求进行产前检测。在获得知情同意后，分子遗传学评估显示男性胎儿携带SBMA重复序列延长。选择性终止妊娠后对胎儿组织的检测显示CAG重复长度不存在体细胞嵌合现象。这是关于受影响胎儿多个组织的分子遗传学分析的首次报告，也是SBMA产前诊断的第二份报告。
