ISOLATION OF CANDIDATE CDNAS FOR PORTIONS OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE
ISOLATION OF CANDIDATE CDNAS FOR PORTIONS OF THE DUCHENNE MUSCULAR-DYSTROPHY GENE
复制标题
DOI：
10.1038/323646a0
复制
发表时间：
1986-10-16
期刊：
影响因子：
64.8
通讯作者：
KUNKEL, LM
中科院分区：
文献类型：
--
作者：
MONACO, AP;NEVE, RL;KUNKEL, LM
Duchenne肌营养不良症（DMD）和不太严重的Becker肌营养不良症（BMD）是人类X-连锁肌肉萎缩性疾病，通过遗传连锁分析1 - 9和细胞学可检测异常10 -12定位于Xp 21带。克隆的DNA片段DXS 164（或pERT 87）已显示可检测无关DMD和BMD男性DNA中的缺失13 -15。在这里，我们提出了两个高度保守的DNA片段的DXS 164基因座和它们的同源序列从小鼠X染色体的核苷酸序列。其中一个人保守片段与从人胎儿骨骼肌分离的RNA中的大转录本杂交，并用于分离覆盖该转录本约10%的cDNA克隆。cDNA克隆映射到Xp 21，并与DXS 164基因座的跨越130个内切酶（kb）的最少8个小区域杂交。这些表达的序列是负责DMD和BMD的基因部分的候选者。
Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are human X-linked muscle-wasting disorders that have been localized to the band Xp21 by genetic linkage analysis1–9and cytologically detectable abnormalities10–12. A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males13–15. Here we present the nucleotide sequence of two highly conserved DNA fragments from the DXS164 locus and their homologous sequences from the mouse X chromosome. One of the human conserved segments hybridized to a large transcript in RNA isolated from human fetal skeletal muscle and was used to isolate cDNA clones which cover approximately 10% of this transcript. The cDNA clones map to Xp21 and hybridize with a minimum of eight small regions that span 130 kilobases (kb) of the DXS164 locus. These expressed sequences are candidates for portions of the gene responsible for both DMD and BMD.