Detection and characterization of new mutations in the human angiotensinogen gene (AGT).
Detection and characterization of new mutations in the human angiotensinogen gene (AGT).
复制标题
人类血管紧张素原基因 (AGT) 新突变的检测和表征。
DOI：
10.1007/bf00214197
复制
发表时间：
1995
期刊：
影响因子：
5.3
通讯作者：
Powers,PK
中科院分区：
文献类型：
--
作者：
Hixson,JE;Powers,PK
As part of the multicenter project entitled “Pathobiological Determinants of Atherosclerosis in Youth (PDAY),” we are testing polymorphisms in candidate genes of atherosclerosis and hypertension for associations with arterial lesions in autopsied young persons. In this study, we used temperature gradient gel electrophoresis (TGGE) to type the Met235→Thr polymorphism in exon 2 of the angiotensinogen gene (AGT) that is associated with essential hypertension in some human populations. In addition to Met235→Thr, we detected and sequenced four other TGGE variants in exon 2 of AGT. These included two new amino acid substitutions (Thr209→ Ile and Leu211→Arg) that were found only among black PDAY cases. The frequency of the Ile209mutation was 0.002 and the frequency of the Arg211was 0.006 in 260 black PDAY cases. The other two TGGE variants were Tyr248→Cys and a T→C substitution at nucleotide position 171 that had been identified in previous studies. We also developed restriction isotyping for rapid typing of each AGT variant using PCR amplification and digestion with diagnostic restriction enzymes.
