Analysis on SNPs of N-formyl-methionyl-leucyl-phenylalanine receptor in human genome

本研究的目的是通过对受试者和家庭成员的人类白细胞趋化功能的遗传诊断和n -甲氧基-蛋氨酸-亮基-苯丙氨酸（fMLP）基因的测序来评估牙周病的风险。多形核中性粒细胞（pmn）被n -甲酰基-甲硫基-亮基-苯丙氨酸（fMLP）化学引诱剂吸引到感染部位。青春期前牙周炎（PP）患者的PMN细胞功能被破坏。趋化功能PP患者的趋化功能由对照组的6.7%下降至83.7%。我们在3例牙龈炎和1例成人牙周炎病例中发现了4例直系亲属趋化功能低下。此外，9例患者（3例牙龈炎患者和6例PP患者）显示fMLP趋化剂对趋化功能的反应较低。如果父母有趋化功能低下，他们的任何一个孩子都有类似的功能障碍。fMLP受体mRNA的产生与未添加化学引诱剂的对照组相比，fMLP受体mRNA的表达量增加了30倍以上。提示PP患者不能产生正确的mRNA，在对照组和PP患者中存在负反馈。fMLP受体的单核苷酸多态性分析我们采用受试者靶DNA的直接序列来评估单核苷酸多态性分析。在等位基因序列中未检测到C . 329t >C和C . 378c >G。鉴定出7个snp。检测到C . 126g >A、C . 209c >G、C . 301g >C、C . 546c >A、C . 576t >G、C . 627c >A和C . 702t >C snp。C . 301g >c SNP与PP患者和双亲中任何一方嗜中性粒细胞趋化性降低有关。综上所述，A C . 301g >C SNP可能是牙周炎家族的危险因素。

The purpose of this study was to evaluate a risk of periodontal disease by the genetic diagnosis of human leukocyte chemotactic function of subjects and family members and sequenced N-formyl-methionyl-leucyl-phenylalanine (fMLP) gene. Polymorphonuclear neutrophils (PMNs) are attracted to sites of infection by N-formyl-methionyl-leucyl-phenylalanine (fMLP) chemoattractants. The cellular functions are disrupted in PMN from prepubertal periodontitis (PP) patients.Results1.chemotactic functionThe chemotactic function in PP patients were depressed from 6.7% to 83.7% of control value. We found four immediate family members who had depressed chemotactic function in 3 gingivitis and 1 adult periodontitis cases. In addition, 9 subjects (3 gingivitis and 6 PP patients) revealed low response to chemotactic function by fMLP chemoattractants. If parents had depressed chemotactic function, either children of those was found similar functional disorder.2.Production of mRNA of fMLP receptorThe amount of mRNA of fMLP receptor increased more than 30 times than that of control subjects with and without chemoattractants. It was suggested that correct mRNA could not produced in PP patients and was found to be negative feedback in control and PP patients.3.SNPs analysis of fMLP receptorWe employed a direct sequence of subject target DNA to evaluate the SNPs analysis. Neither c.329T>C nor c.378C>G were detected in the allele sequenced. Seven SNPs were identified. The c.126G>A, c.209C>G, c.301G>C, c.546C>A, c.576T>G, c.627C>A, and c.702T>C SNPs were detected. A c.301G>C SNP was associated with the PP patient and either parent with depressed neutrophil chemotaxis.In conclusion, A c.301G>C SNP could be a risk factor for periodontitis family.