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THE USE OF A SHUTTLE PLASMID TO STUDY NONTARGETED MUTAGENESIS AND ITS SEQUENCE SPECIFICITY
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作者 张小山 余应年 陈星若 《Chinese Medical Sciences Journal》 CAS CSCD 1995年第1期20-24,共5页
Intact pZ189 DNA was replicated in monkey kidney vero cells which had been pretreated with Nmethyl-N’-nitro-N-nitrosoguanidine (MNNG) . The mutants were selected in E. coli MBM7070 and the mutation frequencies involv... Intact pZ189 DNA was replicated in monkey kidney vero cells which had been pretreated with Nmethyl-N’-nitro-N-nitrosoguanidine (MNNG) . The mutants were selected in E. coli MBM7070 and the mutation frequencies involving mutants with unchanged electrophoretic mobilrty of their plasmid DNA were scored. When compared to the spontaneous mutation frequency. the mutation frequencies were increased by 5.8 and 2.9-fold in cells pretreated with 0. 2 and 2μmol/L MNNG, respectively. The supF genes of these mutants were sequenced. and it was found that the types of base substitution and the sites of frameshifts differed from findings in studies of spontaneous and targeted mutagenesis. The results suggest that nontargeted mutagenesis occurs in mammalian cells and may have a sequence specificity. 展开更多
关键词 nontargeted mutagenesis sequence specificity shuttle plasmids
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四例戊二酸血症Ⅰ型患儿GCDH基因的突变研究 被引量:4
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作者 刘琦 陈益平 陈伟 《中华医学遗传学杂志》 CAS CSCD 北大核心 2015年第2期187-191,共5页
目的分析4例戊二酸血症Ⅰ型患儿的临床资料特点,并探讨其基因突变类型。方法对4例戊二酸血症Ⅰ型患儿进行磁共振成像检查。提取外周血基因组DNA,针对戊二酰辅酶A脱氢酶(glutaryl-CoA dehydrogenase,GCDH)基因设计特异性PCR引物,PC... 目的分析4例戊二酸血症Ⅰ型患儿的临床资料特点,并探讨其基因突变类型。方法对4例戊二酸血症Ⅰ型患儿进行磁共振成像检查。提取外周血基因组DNA,针对戊二酰辅酶A脱氢酶(glutaryl-CoA dehydrogenase,GCDH)基因设计特异性PCR引物,PCR扩增产物直接测序,确定GCDH基因的突变类型。行血串联质谱、尿气相色谱-质谱等检查。对患儿均给予特殊奶粉、左旋肉碱及维生索B2治疗,随访2~3年。结果4例患儿均存在GCDH基因突变,1例为c.245G>C(p.Arg82Pro)、IVS10-2A〉C杂合突变,其中C.245G>C(p.Arg82Pro)来自父亲为新发现的GCDH基因突变类型;3例为IVS10-2A〉C纯合突变,结论在中国温州地区,IVS10-2A〉C突变可能是GCDH常见的突变。 展开更多
关键词 戊二酸血症Ⅰ型 GCDH基因 大头畸形 基因突变 频发突变
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