新发现的中国人ATP结合盒转运子A1基因M233V 单核苷酸多态性及其家系调查

目的对112例中国冠心病患者行ATP结合盒转运子A1（ABCA1）基因筛选以发现新的单核苷酸多态性（SNP）,并对先证者家系进行调查确定其意义。方法用聚合酶链反应（PCR）．单链构象多态性分析（SSCP）-DNA测序及限制性酶切发现ABCA1基因新的SNP,进一步对先证者家系的16位成员进行血脂检查、基因组DNA提取及限制性酶切分析。结果N233V是一个新发现的ABCA1基因SNP,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（N233V）。16位家族成员中发现5例存在N233V SNP位点改变,且均为AG型改变。结论中国人中存在新发现的ABCA1基因N233V SNP,家系调查显示N233V SNP中AA型分布频率最高,AG型次之,AG型SNP的发生具有家族倾向性。

A novel polymorphism in the ATP-binding cassette transporter A1 gene (M233V) in Chinese patients with coronary artery disease

Objective To identify ATP-binding cassette transporter A1(ABCA1)gene polymorphism in Chinese patients with coronary artery disease(CAD).Methods Single Nucleotide Polymorphisms in the ABCA1 gene were detected by polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP)-DNA sequence and restriction-fragment length polymorphism(RFLP)method in 112 patients with CAD.Results A novel polymorphism in the ABCA1 gene was found in 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 Valeric.We further collected the blood samples from 16 family members of one proband and M233V polymorphism was found in 5 out 16 family members.Conclusion M233V is a novel polymorphism in the ATP-binding cassette transporter A1 gene and this AG genotype had family proneness.