A Search for Uniparental Disomy in Carriers of Supernumerary Marker Chromosomes
A Search for Uniparental Disomy in Carriers of Supernumerary Marker Chromosomes
复制标题
多余标记染色体携带者单亲二体性的研究
DOI：
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发表时间：
1995
影响因子：
5.2
通讯作者：
J. Crolla
中科院分区：
文献类型：
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作者：
R. James;I. Temple;N. Dennis;J. Crolla
由于有一些证据表明，个体轴承额外的标记染色体（SMC）可能有一个单亲二体的SMC结构正常的同源物的风险增加，我们做了系统的搜索单亲二体的常染色体同源物SMCs的衍生。在所研究的22个家系中，21个家系的正常同源体为双亲来源，1例6号染色体的父系同二体性是在一个额外标记环6号染色体的携带者中检测到的，该标记环6号染色体本身是母系来源的。我们的研究结果证实，单亲二体可能与SMC相关，但在更多的情况下进行研究之前，我们只能推测其频率和导致这种现象的机制。
As there is some evidence that individuals bearing supernumerary marker chromosomes (SMCs) might have an increased risk of being uniparentally disomic for the structurally normal homologues of the SMC, we made a systematic search for uniparental disomy of the autosomal homologues from which SMCs were derived. Of the 22 families studied, a biparental origin of the normal homologues was demonstrated in 21, and 1 case of paternal isodisomy of chromosome 6 was detected in the carrier of a supernumerary marker ring chromosome 6 which itself was of maternal origin. Our results confirm that uniparental disomy may be found in association with SMCs, but until more cases are studied we can only speculate on their frequency and the mechanism(s) which result in this phenomenon.
影响因子：
4.4
作者：
T. Hudson;M. Engelstein;Matthias K. Lee;Elizabeth C. Ho;M. Rubenfield;Christopher P. Adams;D. Housman;N. Dracopoli
通讯作者：
T. Hudson;M. Engelstein;Matthias K. Lee;Elizabeth C. Ho;M. Rubenfield;Christopher P. Adams;D. Housman;N. Dracopoli