CAJ | 학술논문

目的：筛查恒河猴 samhd1基因编码区单核苷酸多态性（ coding-region single nucleotide polymorphism， cSNP），研究其对蛋白结构和功能的影响。方法提取恒河猴外周血RNA，RT-PCR扩增，测序比对，确定基因编码区变异位点；通过蛋白质结构分析软件对该蛋白结构进行分析；使用SNaPshot方法筛查138只恒河猴基因背景。结果序列比对发现5个非同义突变位点C15G （2.17％）、C320T （6.88％）、G547A （13.41％）、A552T （4.35％）、T839C （17.39％）；其中除C15G外的其它四个cSNP位点均处于SAMHD1蛋白重要结构域上，且G547A、A552T、T839C三个cSNP位点改变SAMHD1蛋白二级结构，可能影响SAMHD1蛋白功能。结论恒河猴samhd1基因编码区存在三个可能影响SAMHD1蛋白功能的cSNP位点，为后续研究提供了参考信息。
목적：사사항하후 samhd1기인편마구단핵감산다태성（ coding-region single nucleotide polymorphism， cSNP），연구기대단백결구화공능적영향。방법제취항하후외주혈RNA，RT-PCR확증，측서비대，학정기인편마구변이위점；통과단백질결구분석연건대해단백결구진행분석；사용SNaPshot방법사사138지항하후기인배경。결과서렬비대발현5개비동의돌변위점C15G （2.17％）、C320T （6.88％）、G547A （13.41％）、A552T （4.35％）、T839C （17.39％）；기중제C15G외적기타사개cSNP위점균처우SAMHD1단백중요결구역상，차G547A、A552T、T839C삼개cSNP위점개변SAMHD1단백이급결구，가능영향SAMHD1단백공능。결론항하후samhd1기인편마구존재삼개가능영향SAMHD1단백공능적cSNP위점，위후속연구제공료삼고신식。
Objective To study the impact of cSNP on the structure and function of samhd1 gene in rhesus macaques .Methods RNA was extracted from peripheral blood of rhesus macaques .The cSNP sites were detected and confirmed through reverse transcription PCR , sequencing and sequence alignment .Protein structure and function were analyzed with Predictprotein and SWISS-MODEL.Finally, the functional cSNP sites were screened by SNaPshot technique in a larger sample scale.Results Five non-synonymous mutation sites (C15G (2.17%), C320T (6.88%), G547A (13.41%), A552T (4.35%) and T839C (17.39%)) were found, respectively.Four of them, except C15G, were included in the key structure domains of SAMHD 1.Meanwhile, G547A, A552T, T839C had secondary structure changed and were likely to impact the function of SAMHD 1.Conclusion Some important cSNP sites are found in samhd1 gene of rhesus macaques , which may impact on the function of SAMHD 1.