PRENATAL IDENTIFICATION OF A GIRL WITH A T(X-4)(P21-Q35) TRANSLOCATION - MOLECULAR CHARACTERIZATION, PATERNAL ORIGIN, AND ASSOCIATION WITH MUSCULAR-DYSTROPHY
PRENATAL IDENTIFICATION OF A GIRL WITH A T(X-4)(P21-Q35) TRANSLOCATION - MOLECULAR CHARACTERIZATION, PATERNAL ORIGIN, AND ASSOCIATION WITH MUSCULAR-DYSTROPHY
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DOI：
10.1136/jmg.27.7.426
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发表时间：
1990-07-01
影响因子：
4
通讯作者：
VANDYKE, DL
中科院分区：
文献类型：
--
作者：
BODRUG, SE;ROBERSON, JR;VANDYKE, DL
已知有23名女性患有杜氏或贝克尔肌营养不良症（DMD或BMD），她们具有破坏p21带内的X染色体的X1常染色体易位。一名女性与t（X;4）（p21;q35）易位被确定产前在常规子宫穿刺。出生时，她被发现有一个上升的CK水平，符合杜氏肌营养不良症的诊断。她的细胞与小鼠RAG细胞融合，易位的染色体通过分离在所得的体细胞杂种中彼此分离并与正常的X染色体分离。Southern杂交分析表明，在DMD基因内的基因组探针GMGX 11和J-66之间的X染色体上发生了易位。用DMD cDNA克隆的亚片段进一步定位，将易位断点置于基因中部的内含子中，证实从头易位破坏了DMD基因。对患者、她的父母和杂交细胞的RFLP分析表明，易位起源于父亲的基因组。这使得六分之六的DMD基因易位的父亲的起源，一个事实，可能是一个重要的线索，在未来的研究机制，其中X;常染色体易位出现。
There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X; autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consistent with a diagnosis of Duchenne muscular dystrophy. Her cells were fused with mouse RAG cells and the translocated chromosomes were separated from one another and from the normal X chromosomes by segregation in the resulting somatic cell hybrids. Southern blot analysis of the hybrids indicated that the translocation occurred on the X chromsome between genomic probes GMGX11 and J-66, both of which lie within the DMD gene. Further localisation with a subfragment of the DMD cDNA clone placed the translocation breakpoint in an intron towards the middle of the gene, confirming that the de novo translocation disrupted the DMD gene. RFLP analysis of the patient, her parents, and the hybrid cells showed that the translocation originated in the paternal genome. This brings to six out of six the number of DMD gene translocations of paternal origin, a fact that may be an important clue in future studies of the mechanism by which X; autosome translocations arise.