Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I)
Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I)
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鉴定产生人脱氧核糖核酸酶 I (DNase I) 中第四个多态性位点的核苷酸取代
DOI：
10.1007/s004390050231
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发表时间：
1996
期刊：
影响因子：
5.3
通讯作者：
K. Kishi
中科院分区：
文献类型：
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作者：
R. Iida;T. Yasuda;H. Takeshita;E. Tsubota;I. Yuasa;T. Nakajima;K. Kishi
人类脱氧核糖核酸酶I（DNase I）基因第7内含子中除了3个多态性位点外，还发现了一个新的多态性位点。单链构象多态性分析的一个266 bp的聚合酶链反应扩增的片段，包含外显子7和内含子7的一部分的人DNA酶I基因上观察到三种表型。DNA序列分析表明，在内含子7的1978位发生了C-G取代。通过限制性片段长度多态性分析证实了该取代，因为该取代产生了新的Msp 1位点。群体和家系研究表明，DNA酶I C1978 G多态性基因型的遗传是由两个共显性等位基因控制的，暂命名为DNASE 1 * 1978 C和 * 1978 G。在日本人口的基因频率显着不同的高加索人（德国）的人口。C1978 G多态性与常见的DNA酶I蛋白表型1、1-2和2连锁不平衡。
Abstract In addition to the three polymorphic sites responsible for protein polymorphism, a new polymorphic site has been identified in intron 7 of the human deoxyribonuclease I (DNase I) gene. Three phenotypes were observed on single-strand conformational polymorphism analysis of a 266-bp polymerase chain reaction-amplified fragment containing exon 7 and part of intron 7 of the human DNase I gene. DNA sequencing analysis demonstrated that a C-G substitution occurred at position 1978 in intron 7. This substitution was confirmed by restriction fragment length polymorphism analysis, since a new Msp1 site is created by the substitution. Population and family studies showed that the inheritance of the genotypes for DNase I C1978G polymorphism is controlled by two codominant alleles, tentatively designated DNASE1*1978C and *1978G. The gene frequencies in a Japanese population were significantly different from those in a Caucasian (German) population. The C1978G polymorphism is in linkage disequilibrium with the common DNase I protein phenotypes 1, 1–2, and 2.
DNA 降解酶 I (DNase I)
DOI：
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发表时间：
2004
期刊：
日本臨床 62・増11
影响因子：
--
作者：
岸 紘一郎
通讯作者：
岸 紘一郎