萨格奈-圣让湖细胞色素氧化酶缺乏症：核编码细胞色素氧化酶亚基的序列分析、染色体定位及亚基VIc中的序列异常
Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.
作者信息
Lee N, Morin C, Mitchell G, Robinson B H
机构信息
Department of Biochemistry, University of Toronto, Ontario, Canada.
出版信息
Biochim Biophys Acta. 1998 Feb 27;1406(1):1-4. doi: 10.1016/s0925-4439(98)00003-9.
PMID:9545512
Abstract
A biochemically distinct form of cytochrome oxidase (COX) deficiency found in the Saguenay region of Quebec is an autosomal recessive trait. The cDNA sequences of all 10 nuclear-encoded subunits from a patient's fibroblasts showed normal coding sequence. Sequences for subunit VIc in two atypical patients showed a heterozygous base substitution. Subunit VIc was localized to chromosome 18.
摘要
在魁北克萨格奈地区发现的一种生物化学性质不同的细胞色素氧化酶（COX）缺乏症是一种常染色体隐性性状。一名患者成纤维细胞的所有10个核编码亚基的cDNA序列显示编码序列正常。两名非典型患者的亚基VIc序列显示杂合碱基替换。亚基VIc定位于18号染色体。
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