通过限制性片段长度多态性分析检测和排除鸟氨酸转氨甲酰酶缺乏症携带者
Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.
作者信息
Schwartz M, Christensen E, Christensen N C, Skovby F, Davies K E, Old J M
出版信息
Clin Genet. 1986 May;29(5):449-52. doi: 10.1111/j.1399-0004.1986.tb00520.x.
Abstract
By examining a restriction fragment length polymorphism (RFLP) detected by a gene specific DNA probe of ornithine transcarbamylase (OTC), we have been able to follow the segregation of the defective gene in a family with OTC deficiency. We have identified three sisters of the proband as carriers, and excluded a fourth as a carrier.
摘要
通过检测由鸟氨酸转氨甲酰酶（OTC）的基因特异性DNA探针所检测到的限制性片段长度多态性（RFLP），我们得以追踪一个患有OTC缺乏症的家族中缺陷基因的分离情况。我们已确定先证者的三个姐妹为携带者，并排除了第四个姐妹为携带者的可能性。
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