Fox J E, Hack A M, Fenton W A, Rosenberg L E
Am J Hum Genet. 1986 Jun;38(6):841-7.
Two additional restriction fragment length polymorphisms (RFLPs) have been identified at the human ornithine transcarbamylase (OTC) locus. Approximately 11% of women are heterozygous for an RFLP characterized by polymorphic bands at 3.7 and 3.6 kilobasepairs (kbp) observed after DNA digestion with TaqI. Twenty-nine percent of women are heterozygous for an RFLP characterized by polymorphic bands at 18.0 and 5.2 kbp observed after digestion with BamHI. Thus, in combination with the previously reported RFLPs identified using MspI, the X chromosomes in approximately 80% of women at risk for having a son with OTC deficiency are distinguishable by RFLPs at the OTC locus. Furthermore, we show that these RFLPs will be useful in families for prenatal diagnosis of OTC deficiency, carrier detection, and carrier exclusion.
在人类鸟氨酸转氨甲酰酶（OTC）基因座上又鉴定出了两种限制性片段长度多态性（RFLP）。大约11%的女性为一种RFLP的杂合子，其特征是在用TaqI消化DNA后观察到3.7和3.6千碱基对（kbp）处有多态性条带。29%的女性为一种RFLP的杂合子，其特征是在用BamHI消化后观察到18.0和5.2 kbp处有多态性条带。因此，与先前报道的使用MspI鉴定出的RFLP相结合，在有生出患OTC缺乏症儿子风险的约80%女性中，其X染色体可通过OTC基因座处的RFLP加以区分。此外，我们表明这些RFLP在家庭中对于OTC缺乏症的产前诊断、携带者检测和携带者排除将是有用的。
