Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.
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杜氏肌营养不良症基因中不等姐妹染色单体交换导致突变的证据。
DOI：
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发表时间：
1989
影响因子：
9.8
通讯作者：
Ronald G. Worton
中科院分区：
文献类型：
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作者：
Xiuyuan Hu;A. Burghes;Dennis E. Bulman;Peter N. Ray;Ronald G. Worton
我们研究了三个家系，每个家系都有一名患有Duchenne或Becker肌营养不良症的男性。用基因组和cDNA探针进行的Southern杂交分析显示，该基因中含有外显子的DNA片段在先证者及其母亲中复制，在两例中，还复制了他们的姐妹。通过RFLP和重复分析，在这些家系中证实了该重复的祖父母来源。结果表明，不平等的姐妹染色单体交换，很可能发生在先证者的祖父的生殖细胞谱系中，是产生这些重复的原因，这种类型的染色体内重排，尽管在人类中很少报道，但在肌肉营养不良基因中并不少见。
We have studied three families each containing a male with Duchenne or Becker muscular dystrophy. Southern blot analysis using both genomic and cDNA probes revealed that an exon-containing segment of DNA within the gene is duplicated in the probands, their mothers, and, in two cases, their sisters. The grandpaternal origin of the duplication has been demonstrated in these families by RFLP and duplication analysis. The results suggest that unequal sister-chromatid exchange, which most likely occurred in the germ cell lineage of the proband's grandfather, is responsible for generating these duplications and that this type of intrachromosomal rearrangement, although rarely reported in humans, is not uncommon in the muscular dystrophy gene.
影响因子：
56.9
作者：
LEHRMAN, MA;SCHNEIDER, WJ;RUSSELL, DW
通讯作者：
RUSSELL, DW
杜氏肌营养不良症和贝克尔肌营养不良症的分子遗传学。
DOI：
10.1016/s0022-3476(05)82437-0
发表时间：
1990
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Darras,BT
通讯作者：
Darras,BT