一名患有杜氏肌营养不良症的女性中的(X;6)易位：对DMD基因座定位的影响
Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
作者信息
Zatz M, Vianna-Morgante A M, Campos P, Diament A J
出版信息
J Med Genet. 1981 Dec;18(6):442-7. doi: 10.1136/jmg.18.6.442.
Abstract
A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp21 points to a non-rand association of this site with the DMD phenotype. A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp21.
摘要
本文报道了一名患有杜氏肌营养不良症的女性，她是平衡易位t(X;6)(p21;q21)的携带者。其他四个先前描述的与杜氏肌营养不良症相关的(X;A)易位与本病例在Xp21处有共同的断点。五个独立的(X;A)易位在Xp21处出现断点的概率极低，这表明该位点与杜氏肌营养不良症表型之间存在非随机关联。位于Xp21的杜氏肌营养不良症基因座可能因易位而受损，从而导致杜氏肌营养不良症。或者，一个预先存在的杜氏肌营养不良症基因可能会削弱染色体，促使在Xp21处发生断裂。
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