CAJ | 학술논문

目的对比分析新疆地区家族性与散发性扩张型心肌病患者核纤层蛋白(LMNA)基因突变的特点.方法对两个扩张型心肌病家系[共28名成员,家族性扩张型心肌病(FDCM)]、123例散发性扩张型心肌病(IDCM)患者(维吾尔族患者56例,汉族患者67例)和160名健康对照(维、汉两民族各80名)进行LMNA的基因筛查,提取全血DNA,聚合酶链反应(PCR)扩增LMNA基因的12个外显子及附近内含子,对目的基因直接测序,测序结果与美国国立生物技术信息中心数据库标准序列进行比对分析,采用关联分析分析多态性位点与各组的关系.结果汉族FDCM多态位点rs4641等位基C和等位基因T传递给患病子女的频率差异无统计学意义.在1例汉族IDCM患者中发现10号外显子一未报道单碱基变异(c.1714C ＞T),导致了氨基酸的改变(R572C).LMNA基因多态位点rs553016在IDCM维吾尔族病例组与对照组两组间等位基因频率和基因型分布差异有统计学意义(P＜0.05).logistic回归显示LMNA基因多态位点rs553016与维吾尔族IDCM显著相关(OR=3.178,95％CI:1.086 ～9.305,P=0.035).结论 LMNA基因多态位点rs4641与新疆地区汉族FDCM可能不相关,LMNA基因变异与新疆地区IDCM相关,多态位点rs553016是维吾尔族IDCM患者的独立危险因素.
목적 대비분석신강지구가족성여산발성확장형심기병환자핵섬층단백(LMNA)기인돌변적특점.방법 대량개확장형심기병가계[공28명성원,가족성확장형심기병(FDCM)]、123례산발성확장형심기병(IDCM)환자(유오이족환자56례,한족환자67례)화160명건강대조(유、한량민족각80명)진행LMNA적기인사사,제취전혈DNA,취합매련반응(PCR)확증LMNA기인적12개외현자급부근내함자,대목적기인직접측서,측서결과여미국국립생물기술신식중심수거고표준서렬진행비대분석,채용관련분석분석다태성위점여각조적관계.결과 한족FDCM다태위점rs4641등위기C화등위기인T전체급환병자녀적빈솔차이무통계학의의.재1례한족IDCM환자중발현10호외현자일미보도단감기변이(c.1714C ＞T),도치료안기산적개변(R572C).LMNA기인다태위점rs553016재IDCM유오이족병례조여대조조량조간등위기인빈솔화기인형분포차이유통계학의의(P＜0.05).logistic회귀현시LMNA기인다태위점rs553016여유오이족IDCM현저상관(OR=3.178,95％CI:1.086 ～9.305,P=0.035).결론 LMNA기인다태위점rs4641여신강지구한족FDCM가능불상관,LMNA기인변이여신강지구IDCM상관,다태위점rs553016시유오이족IDCM환자적독립위험인소.
Objective To explore the association between LMNA gene mutation and familiar dilated cardiomyopathy (DCM) (FDCM) and idiopathic DCM (IDCM) in Uygurs and Hans people in Xinjiang area.Methods Peripheral blood samples were collected from 28 family member with FDCM and 123 sporadic patients with IDCM(56 Uygur patients and 67 Han patients),80 Uygur and 80 Han people were chosen as normal controls.PCR was used to amplify the 12 exons of LMNA gene.The amplified products were sequenced and compared with the standard sequence in the NCBI to determine the mutation sites.Results Transmission of the allele C and T of rs4641 was similar in Han FDCM patients.One new variation(c.1714C ＞ T) located at exon 10 of LMNA gene was identified in 1 Han patient with IDCM,this mutation caused an amino acid substitution (R572C).In Uygurs people,rs553016 polymorphism was significant different between IDCM and control groups (P ＜ 0.05).Logistic regression revealed that rs553016 was an independent risk factor for Uygurs patients with IDCM (OR =3.178,P =0.035).Conclusions LMNA rs4641 is not associated with FDCM of Hans people in Xinjiang while LMNA mutation is associated with IDCM and rs533106 polymorphism is an independent risk factor for Uygurs patients with IDCM.