Schwartz M, Christensen E, Christensen N C, Skovby F, Davies K E, Old J M
Clin Genet. 1986 May;29(5):449-52. doi: 10.1111/j.1399-0004.1986.tb00520.x.
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.
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。
