Barrera Saldaña H A, Rojas Martínez A, Rivera Pérez J A, Vázquez Alemán R M, González Garay M L
Departamento de Bioquímica, Facultad de Medicina de la Universidad Autónoma de Nuevo León, Monterrey, N.L.
Gac Med Mex. 1992 Nov-Dec;128(6):613-20; discussion 620-1.
Accordingly, we have established in our unit a DNA diagnosis laboratory and have started molecular genetics and epidemiological studies of several inherited diseases. We have started with cystic fibrosis, muscular dystrophy and hemophilia A. We practice the molecular diagnosis with both, Southern transfer and the polymerase chain reaction, using either direct (detection of mutations) or indirect (restriction fragment length polymorphisms) approaches. With the studies we have so far carried out, we have been able to provide genetic counseling and gained valuable information on the type and frequency of mutation associated to these diseases in our region.
因此，我们在本单位建立了一个DNA诊断实验室，并开始了对几种遗传性疾病的分子遗传学和流行病学研究。我们从囊性纤维化、肌肉萎缩症和甲型血友病入手。我们采用Southern印迹转移法和聚合酶链反应进行分子诊断，使用直接（检测突变）或间接（限制性片段长度多态性）方法。通过我们目前已开展的研究，我们能够提供遗传咨询，并获得了有关我们地区这些疾病相关突变类型和频率的宝贵信息。
