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鸟氨酸氨甲酰基转移酶缺乏症家系的OTC基因变异1例分析与产前诊断

A case of genealogy OTC genovariation of ornithine carbamoyltransferase and prenatal diagnosis
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摘要 鸟氨酸氨甲酰基转移酶缺乏症(ornithine carbamoyltransferase deficiency, OTCD,OMIM: 311250)是鸟氨酸氨甲酰基转移酶缺乏引起的以血氨升高为主要临床症状的遗传代谢性疾病。本病是尿素循环障碍的最常见形式,发病人数占尿素循环障碍患病率的50%[1-3]。
作者 蔡尧 李思涛 杨秋萍 刘冰清 刘梦娴 肖昕 郝虎 CAI Yao;LI Si-tao;YANG Qiu-ping
机构地区 中山大学附属第六医院儿科
出处 《中国儿童保健杂志》 CAS CSCD 2022年第1期110-112,116,共4页 Chinese Journal of Child Health Care
基金 广州市科技计划项目(201704020230)。
关键词 鸟氨酸氨甲酰基转移酶缺乏症 鸟氨酸氨甲酰基转移酶 基因变异 产前诊断
分类号 R722.1 [医药卫生—儿科]
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  • 2Arranz, J.A., Madrigal, I., Riudor, E., Armengol, L., Mila, M., 2007. Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome. J. Inherit. Metab. Dis. 30, 813. 379-385.
  • 3Augustin, L., Mavinakere, M., Morizono, H., Tuchman, M., 2000. Expression of wild-type and mutant human ornithine transcarbamylase genes in Chi- nese hamster ovary cells and lack of dominant negative effect of R141Q and R40H mutants. Pediatr. Res. 48, 842-846.
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中国儿童保健杂志
2022年 第1期

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