Wendel U, Wilichowski E, Schmidtke J, Bachmann C
Universitäts-Kinderklinik, Düsseldorf, Federal Republic of Germany.
Eur J Pediatr. 1988 May;147(4):368-71. doi: 10.1007/BF00496412.
By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers. In one case a doubtful result obtained in a biochemical carrier detection test (by examining the renal orotic acid excretion after a protein load) could be clarified by DNA analysis. In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis. Previous results of the biochemical carrier test should be controlled by DNA analysis, especially when "normal" results were obtained.
通过分析由鸟氨酸转氨甲酰酶（OTC）基因特异性DNA探针检测到的限制性片段长度多态性（RFLP），我们追踪了两个患有OTC缺乏症（X连锁疾病）的家族中缺陷基因的分离情况。我们能够排除一些女性家庭成员作为携带者的可能性。在一个案例中，通过DNA分析澄清了在生化携带者检测试验（通过检查蛋白质负荷后的肾脏乳清酸排泄）中获得的可疑结果。在每个患有OTC缺乏症的家族中，携带者检测应以生化检测为主，并辅以DNA分析。生化携带者检测的先前结果应由DNA分析进行验证，尤其是当获得“正常”结果时。
