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首页> 外文期刊>Advancements in Life Sciences >Molecular study of Apolipoprotein E gene in familial hypercholesterolemic families
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Molecular study of Apolipoprotein E gene in familial hypercholesterolemic families

机译：家族性高胆固醇血症家族中载脂蛋白E基因的分子研究

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Background: Familial hypercholesterolemia (FH) is understood to be one in all the foremostcommon hereditary disease and critically associated with Coronary heart conditionworldwide. FH is taken into account to be caused because of mutations and polymorphismswithin the apolipoprotein E (Apo E) cistron. Exaggerated level of density compound proteinLDL-C is that the hallmark of this malady.Methodology: Seven hypercholesterolemic families were chosen for this study. Case historywas taken and pedigree was created in person by visiting every family. Exon3 and exon4regions of ApoE cistron were amplified using polymerase chain reaction (PCR).Aftersuccessful amplification, both citrons were sequenced. Single strand conformationpolymorphism (SSCP) results were obtained to support the different pattern of single strandpolymorphism of studied samples.Results: The sequencing results of probands from all the seven families showed that six outof seven have Apo E three isoform whereas one family showed change within the sequencefrom T to C at 112 sequence position of processed macromolecule resulted in amino acidthat represents it as Apo E4 isoform.Conclusion: Our findings show that Apo E3 is more prevalent than Apo E4 and otherisoforms in studied population of Pakistan.
机译：背景：家族性高胆固醇血症（FH）被认为是所有最常见的遗传性疾病之一，与全世界冠心病严重相关。考虑到FH是由于载脂蛋白E（Apo E）顺反子内的突变和多态性引起的。高密度复合蛋白LDL-C的水平是该疾病的标志。方法：本研究选择了七个高胆固醇血症家族。记录病史并通过拜访每个家庭亲自创建血统书。用聚合酶链反应（PCR）扩增ApoE顺反子的外显子3和外显子4区域。扩增成功后，对两个顺子进行测序。获得单链构象多态性（SSCP）结果以支持所研究样品的单链多态性的不同模式。结果：来自所有七个家族的先证者的测序结果表明，七个家族中的六个具有Apo E三个同工型，而一个家族显示出Apo E的变化。在加工的大分子的112个序列位置从T到C的序列产生的氨基酸表示为Apo E4同工型。结论：我们的研究结果表明，在巴基斯坦的研究人群中，Apo E3比Apo E4及其他同工型更普遍。

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