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低密度脂蛋白受体(LDLR)基因黎巴嫩变异是引起家族性高胆固醇血症(FH)的基因。LDLR基因损害而引起的FH是以家族性聚集,血清中低密度脂蛋白(LDL)的含量升高为特征。FH常与腱黄色瘤病同时出现。据估计黎巴嫩人的纯合子FH流行率是其他群体的10倍。在外显子14 660位有一单个碱基(胞嘧啶→腺嘌呤)的替换。此突变是LDLR基因的变异型,叫做黎巴嫩型等位基因。此突变导致终止密码提前出现,并为限制性内切酶HinfⅠ形成1个切割位点(GANTC)。
Low density lipoprotein receptor (LDLR) gene Lebanon mutation is the gene that causes familial hypercholesterolemia (FH). FH caused by LDLR gene damage is characterized by familial aggregation and elevated levels of serum low-density lipoprotein (LDL). FH often associated with tendon xanthomatosis at the same time. It is estimated that Lebanese have 10 times more prevalence of homozygous FH than other groups. There is a single base substitution (cytosine → adenine) at exon 14 660. This mutation is a variant of the LDLR gene called the Lebanese-type allele. This mutation resulted in the premature termination of the codon and formed a cleavage site (GANTC) for the HinfI restriction enzyme.