C到T和/或G到A的转换导致人类载脂蛋白AI基因5'端MspI限制性酶切位点的丢失。
C to T and/or G to A transitions are responsible for loss of a MspI restriction site at the 5'-end of the human apolipoprotein AI gene.
作者信息
Wang X L, Badenhop R, Humphrey K E, Wilcken D E
机构信息
Department of Cardiovascular Medicine, Prince Henry Hospital, Little Bay, NSW, Australia.
出版信息
Hum Genet. 1995 Apr;95(4):473-4. doi: 10.1007/BF00208984.
PMID:7535747
Abstract
We detected the loss of a MspI restriction site by a C to T transition at +83 bp and a G to A transition at +84 bp of the 5'-end non-coding region of the human apolipoprotein AI gene. This base change occurred at the "hot spot" (CCGG) for methylation, which may be important in the regulation of gene expression. The population frequency for the loss of the MspI site is 6.1%.
摘要
我们检测到人类载脂蛋白AI基因5'-端非编码区第83个碱基处由C到T的转换以及第84个碱基处由G到A的转换导致了一个MspI限制性酶切位点的丢失。这种碱基变化发生在甲基化的“热点”（CCGG）处，这可能在基因表达调控中具有重要意义。MspI位点丢失的群体频率为6.1%。
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