新发现的蒙古族ATP结合盒转运子A1基因M233V多态性的研究#

目的:探讨ATP结合盒转运子A1 基因(ATP binding cassette transporter 1 ,ABCA1)M233V多态性在内蒙古地区蒙古族人群中的分布及其与血脂和冠心病的关系。方法:采用聚合酶链反应---限制片段长度多态性(polymerase chain reaction-restriction fragmentslength polymorphism, PCR-RFLP)方法检测115名蒙古族冠心病患者和对照组ABCA1基因相应片段的多态性。结果:M233V是一个新发现的ABCA1基因多态性,此位点在外显子7,cDNA位置为A1092G,并导致233位氨基酸由甲硫氨酸转变为缬氨酸(M233V)。内蒙古地区蒙古族人群中ABCA1 基因M233V多态性位点存在MM、MV和VV三种基因型,MM型分布频率最高,MV型次之,VV型最低。两组人群的基因多态性分布差异无统计学意义(P>0.05)。MM组和MV+VV组TC、TG、HDL-C、LDL-C比较无统计学差异(P>0.05)。结论:内蒙古地区蒙古族人群中存在新发现的ABCA1基因M233V多态性,M233V 基因多态性中MM型分布频率最高,MV型次之,VV型最低。

A Novel Polymorphisms in the ABCA1 Gene M233V in Mongolia Population and Coronary Heart disease

SObjective:To investigate whether ATP-binding cassette transporter 1(ABCA1) M233V genetic variation is correlated with blood lipids in Mongolian population and the association of this polymorphism with coronary heart disease(CHD).Methods:The target fragments of ABCA1gene was amplified and analyzed by polymerase chain reaction(PCR)-restriction fragments length polymorphism(RFLP) technique in 115 Mongolian control subjects without CHD and patients with CHD.Results:A novel polymorphism in the ABCA1 gene Was found in thirty two patients:M233V which exists in exon7 of ABCA1 gene and it’s cDNA location is A1092G and converses 233 amino acid from Methionine to VMefie.ABCA1 gene M233V polymorphism were existing in Mongolian population,which had three types MM genotype,MV genotype and VV genotype.The highest frequency of ABCA1 M233V genetic variation was MM genotype,the next was MV genotype and the lowest was VV genotype in Mongolian population.There was no significant difference in frequency of allele and genotype in M233V polymorphism between controls and CHD patients(P>0.05).No significant difference was found in level of TC,TG,HDL-C,LDL-C between MM genotype and MV+VV genotype(P>0.05).Conclusion:M233V is a novel polymorphism in the ATP-binding cassette transporter A1 gene.The highest frequency of ABCA1 M233V genetic variation was MM genotype,the next was MV genotype and the lowest was VV genotype in Mongolian population.