Nunes Martínez V, Gallano Petit P, del Río Conde E, Casals Senent T, Baiget Bastus M
Unidad de Biología Molecular para el estudio de las enfermedades hereditarias y diagnóstico prenatal, Hospital de la Santa Cruz y San Pablo, Barcelona.
An Esp Pediatr. 1988 Feb;28(2):93-9.
Carrier detection and prenatal diagnosis of Duchenne muscular dystrophy can be, now, more accurately performed with the DNA recombinant techniques. The segregation pattern of DMD gen can be studied using the genetic variants detected at the DNA level (RFLPs) as markers. Cloned fragments within or very close to the gene (intragenic or extragenic probes) are used to reveal the RFLPs. Three families at risk for DMD were studied. Hybridization with extra or intragenic probes was performed and the analyses of several markers allows us to identify the X chromosome carrying the DMD gene. Carrier diagnosis was possible in all three families and a prenatal diagnosis in a carrier mother showed a risk probability of male affected fetus of 93-95%.
如今,利用DNA重组技术能够更准确地进行杜氏肌营养不良症的携带者检测和产前诊断。可以使用在DNA水平检测到的遗传变异(限制性片段长度多态性,RFLPs)作为标记来研究DMD基因的分离模式。基因内部或非常靠近该基因的克隆片段(基因内或基因外探针)用于揭示RFLPs。对三个有DMD风险的家庭进行了研究。进行了与基因外或基因内探针的杂交,对多个标记的分析使我们能够识别携带DMD基因的X染色体。在所有三个家庭中都可以进行携带者诊断,对一位携带者母亲进行的产前诊断显示男性胎儿受影响的风险概率为93 - 95%。