通过DNA分析对两个家族中的鸟氨酸转氨甲酰酶缺乏症进行产前监测。
Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.
作者信息
Matsuura T, Hoshide R, Fukushima M, Sakiyama T, Owada M, Matsuda I
机构信息
Department of Pediatrics, Kumamoto University School of Medicine, Japan.
出版信息
J Inherit Metab Dis. 1993;16(1):31-8. doi: 10.1007/BF00711312.
We examined the DNA in two families with ornithine transcarbamoylase (OTC) deficiency. Two point mutations of the OTC gene, a C-to-T (codon 141) and a G-to-A (codon 141), were identified. This allowed prenatal monitoring to be made for two fetuses in each family, using polymerase chain reaction (PCR), followed by allele-specific oligonucleotide hybridization or TaqI digestion of amplified sequence. The diagnoses showed heterozygotes of a wild type gene and the corresponding mutant gene in these fetuses; each was confirmed postnatally.
我们检测了两个患有鸟氨酸转氨甲酰酶（OTC）缺乏症的家庭的DNA。发现了OTC基因的两个点突变，一个是C到T（密码子141），另一个是G到A（密码子141）。这使得可以对每个家庭中的两个胎儿进行产前监测，方法是使用聚合酶链反应（PCR），然后对扩增序列进行等位基因特异性寡核苷酸杂交或TaqI酶切。诊断结果显示这些胎儿为野生型基因和相应突变基因的杂合子；每个诊断结果在出生后均得到证实。
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