CAJ | 학술논문

目的探讨补体因子H(CFH)外显子9的单核苷酸多态性T1277C(Y402H)与国人东北地区老年黄斑变性的发病关系.方法选取2004～2007年沈阳何氏眼科医院确诊的83例散发性老年性黄斑变性患者及91例彼此无关联的对照者,年龄、民族和性别相匹配且都生长在我国东北地区,排除其他可能影响AMD的因素.抽取外周抗凝血4～6ml,提取全基因组DNA,聚合酶链反应(Polymerase chain re-action,PCR)扩增外显子9片断并进行直接测序.分别计算疾病组及对照组T1277C(Y402H)的发生频率及其比值比(oddsratio,OR),用卡方检验对结果进行统计学分析.结果疾病组和对照组中Y402H发生频率和国外报道有明显不同,疾病组有3例阳性,频率为3.6%,对照组有3例阳性,频率为3.3%,X~2≈0.1926,P>0.05,差异无统计学意义.OR≈1.074,不能认为Y402H的变化与国人老年性黄斑变性的发生有相关性.结论现未发现CFH基因中9号外显子上Y402H的变化与国人老年性黄斑变性的发生相关,但并不能否认CFH基因多态性与AMD有相关性,可能存在其他的单模标本多态性与国人AMD相关,这需要做进一步的研究来发现.
목적 탐토보체인자H(CFH)외현자9적단핵감산다태성T1277C(Y402H)여국인동북지구노년황반변성적발병관계.방법 선취2004～2007년침양하씨안과의원학진적83례산발성노년성황반변성환자급91례피차무관련적대조자,년령、민족화성별상필배차도생장재아국동북지구,배제기타가능영향AMD적인소.추취외주항응혈4～6ml,제취전기인조DNA,취합매련반응(Polymerase chain re-action,PCR)확증외현자9편단병진행직접측서.분별계산질병조급대조조T1277C(Y402H)적발생빈솔급기비치비(oddsratio,OR),용잡방검험대결과진행통계학분석.결과 질병조화대조조중Y402H발생빈솔화국외보도유명현불동,질병조유3례양성,빈솔위3.6%,대조조유3례양성,빈솔위3.3%,X~2≈0.1926,P>0.05,차이무통계학의의.OR≈1.074,불능인위Y402H적변화여국인노년성황반변성적발생유상관성.결론 현미발현CFH기인중9호외현자상Y402H적변화여국인노년성황반변성적발생상관,단병불능부인CFH기인다태성여AMD유상관성,가능존재기타적단모표본다태성여국인AMD상관,저수요주진일보적연구래발현.
Objective To detect SNPs of Y402H and investigate its association with age-related macular degeneration (AMD)in China.Methods Eighty-three unrelated sporadic patients with AMD and 91 unrelated age-matched controls without AMD were recruited from He Eye Hospital from 2004 to 2007.Vein blood samples were collected and Genomic DNA were extracted.The SNPs of the exon 9 in AMD patients and control subjects were screened and identified by fluorescent labeling automated sequencing.The frequencies of SNP in two groups were counted and obtained statistical analyze.Results The haplotype containing Y402H, which was previously reported to be associated with AMD, was only 3.6% in case and 3.3% in control population, there was no significant difference.OR=1.074, there was no association between haplotype Y402H and AMD. Conclusions There is no obvious association between haplotype Y402H and AMD in Chinese populations.