脑梗死患者载脂蛋白(a)基因TTTTA五核苷酸重复序列多态性

载脂蛋白 (a) 5’端侧翼存在一个TTTTA五核苷酸重复序列 ,为探讨中国汉族人群中载脂蛋白 (a)TTT TA五核苷酸重复序列多态性与动脉硬化性脑梗死的关系 ,采用聚合酶链反应、变性聚丙烯酰胺凝胶电泳和银染等技术分析湖北地区 82例脑梗死患者和 15 3例正常汉人TTTTA五核苷酸重复序列 ,同时采用T载体快速克隆载脂蛋白 (a) (TTTTA) 5等位基因并对其测序。共检出TTTTA串联重复次数为 4、5、7、8、9、10和 11共 7种等位基因和 4/ 8、4/ 9、5 / 8、5 / 9、7/ 8、8/ 8、8/ 9、8/ 10、8/ 11、9/ 9和 9/ 10等 11种基因型 ,脑梗死组载脂蛋白 (a)TTTTA重复序列为 5的等位基因频率明显高于正常对照组 (P <0 .0 5 ) ,重复序列为 9的等位基因频率明显低于正常对照组 (P<0 .0 1) ,测序结果表明 (TTTTA) 5等位基因未发现其有基因变异。结果提示极有可能是 (TTTTA)的重复数目不同与脑梗死发生关联。

A TTTTA Pentanucleotide Repeat Polymorphism of Apolipoprotein(a) Gene in Patient with Cerebral Infarction

Aim To explore the correlation between TTTTA Pentanucleotide repeats(PNR) polymorphism of the apolipoprotein(a) gene and atherosclerosis cerebral infarction(ACI) in Chinese Han nationality,235 subjects with no blood links in Hubei region, including 82 patients with ACI and 153 healthy controls were studied. Methods Polymerase chain reaction (PCR) denature polyacrylamide gel electrophoresis silver stain technique was employed to determine the TTTTA PNR polymorphism of apo(a) gene. And (TTTTA) 5 allele of the apo(a) PNR was cloned into a plasmid T vector. The recombinant PGEM apo(a) was sequenced. Results The Chinese Han nationality in Hubei region has apo(a) gene polymorphism,7 alleles with 4,5,7,8,9,10,11 TTTTA PNR and 11 genotypes with 4/8, 4/9, 5/8, 5/9, 7/8, 8/8, 8/9, 8/10, 8/11, 9/9 and 9/10 was detected; the allele frequency in ACI with 5 repeats was remarkably higher than that in controls(P<0.05),the frequency in ACI with 9 repeats was remarkably lower than that in controls(P<0.01); sequence mutation of the apo(a) PNR(TTTTA) 5 was not found. Conclusions It was possible that the copy number of the apo(a) PNR (TTTTA) was associated with the susceptibility to ACI .