MEIOTIC STABILITY AND GENOTYPE-PHENOTYPE CORRELATION OF THE TRINUCLEOTIDE REPEAT IN X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY
MEIOTIC STABILITY AND GENOTYPE-PHENOTYPE CORRELATION OF THE TRINUCLEOTIDE REPEAT IN X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY
复制标题
DOI：
10.1038/ng1292-301
复制
发表时间：
1992-12-01
期刊：
影响因子：
30.8
通讯作者：
FISCHBECK, KH
中科院分区：
文献类型：
--
作者：
LASPADA, AR;ROLING, DB;FISCHBECK, KH
雄激素受体基因第一外显子三核苷酸重复序列（CAG）n的扩增与一种罕见的运动神经元疾病X连锁脊髓延髓肌萎缩症相关我们已经发现，扩展（CAG）n等位基因的长度发生变化时，从父母传给后代。在检查的45个减数分裂中，12个（27%）表现出CAG重复数的变化。观察到膨胀和收缩，尽管幅度很小。雄性减数分裂的不稳定率高于雌性减数分裂。我们还发现了疾病严重程度和CAG重复序列长度之间相关性的证据，但其他因素似乎有助于这种疾病的表型变异。
Expansion of the trinucleotide repeat (CAG)n in the first exon of the androgen receptor gene is associated with a rare motor neuron disorder, X-linked spinal and bulbar muscular atrophy. We have found that expanded (CAG)n alleles undergo alteration in length when transmitted from parent to offspring. Of 45 meioses examined, 12 (27%) demonstrated a change in CAG repeat number. Both expansions and contractions were observed, although their magnitude was small. There was a greater rate of instability in male meiosis than in female meiosis. We also found evidence for a correlation between disease severity and CAG repeat length, but other factors seem to contribute to the phenotypic variability in this disorder.