与X-常染色体易位相关的无脉络膜症
Choroideremia associated with an X-autosomal translocation.
作者信息
Siu V M, Gonder J R, Jung J H, Sergovich F R, Flintoff W F
机构信息
Department of Paediatrics, Children's Hospital of Western Ontario, London, Canada.
出版信息
Hum Genet. 1990 Apr;84(5):459-64. doi: 10.1007/BF00195820.
A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13-46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the DNA from this patient. To our knowledge this is the first report of a translocation associated with choroideremia. One of the translocation chromosomes, derivative 13, free of the derivative X and normal X, has been isolated in a somatic cell hybrid. Because of the clinical association of the eye findings with chromosome interchange, we suggest that the breakpoint on the X is at or near the choroideremia locus. Further analysis of this translocation may be useful in cloning the choroideremia gene.
一名患有轻度脉络膜视网膜萎缩症的患者被发现携带X染色体与13号染色体之间的平衡易位——46,X,t(X;13)(q21.2;p12)。在X染色体上已证明定位于该区域且在某些脉络膜视网膜萎缩症患者中有时会缺失的基因座（DXY21、DX232、DX233），在该患者的DNA中是完整的。据我们所知，这是与脉络膜视网膜萎缩症相关的易位的首次报道。其中一条易位染色体，即不含衍生X染色体和正常X染色体的衍生13号染色体，已在一个体细胞杂种中分离出来。由于眼部表现与染色体互换之间的临床关联，我们认为X染色体上的断点位于脉络膜视网膜萎缩症基因座处或其附近。对这种易位的进一步分析可能有助于克隆脉络膜视网膜萎缩症基因。
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