【摘要】 目的　检测 3个家族性高胆固醇血症 (familialhypercholesterolemia,FH)家系的基因突变位点 ,评价双脱氧链终止基因测序法诊断FH的价值。方法　应用双脱氧链终止基因测序法对各样本DNA进行低密度脂蛋白受体 (lowdensitylipoproteinreceptor,LDLR)基因测序。结果　临床诊断 3个家系 4 3例中纯合子FH 5例 ,杂合子FH者 10例 ,正常 2 8例 ;对照组 30例。LDLR基因测序发现三个突变位点 :Exon10TGG 14 4 8TAG(Trp Stop)、Exon11ATG 15 92AAG (Met Lys)、Exon4GAG 6 83GCG(Glu Ala) ;后两者为首次发现。临床判断和基因测序结果 6 9例一致 ,符合率为 94 5 %。对于 4例不一致的结果 ,分析认为基因测序结果更合理。结论　双脱氧链终止基因测序法对LDLR基因进行突变的检测是确诊家族性高胆固醇血症的有效方法更多还原

【Abstract】 Objective To detect the gene defect of three families of the familial hypercholesterolemia(FH), and estimate the value of gene sequencing for diagnosing FH Methods Gene sequencing method were performed to screen low density lipoprotein receptor(LDLR) gene of FH families and the control Results A total of 73 subjects(43 in the FH families ,and 30 in controls)were examined Three mutations were found in the FH families which were Exon10 TGG 1448 TAG(Trp Stop)?Exon11 ATG 1592 AAG (Met Lys) and Exon4 GAG 683 GCG(Glu Ala) The latter two were novel mutations No functional mutations were found in the control The clinical data and sequencing results were comsistent for correct diagnosis in 69 of 73 subjects( 94 5%) For the inconsistent recult, it was believed that gene sequencing was more reasonable Conclusion Gene screening of LDLR is a useful tool for diagnosing FH更多还原