Kerepesi M, Császár A, Földi J, Mesterházy J, Romics L
Semmelweis Orvostudományi Egyetem, III. sz. Belgyogyászati Klinika, Budapest.
Orv Hetil. 1997 Jan 5;138(1):15-8.
Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by different mutations in the low density lipoprotein receptor (LDLR) gene. We analyzed 13 families (23 patients) with FH and 36 subjects with normocholesterolemia by restriction fragment polymorphism (RFLP) using enzymes Xbal, BgIII and PvuII. At the 3' end of LDLR an extra 4.4 kb band has been found by Xbal digestion in one patient and it has been proved to be a "de novo" form of mutation. In the 5' end of LDLR gene a combined mutation has been identified in two FH families. The Xbal RFLP has yielded an extra band of 24.5 kb and an another extra band of 17.5 kb has been found by BgIII digestion. It has been suggested that the simultaneous occurrence of 3.3 kb extended deletion (intron 3) and 4.8 kb extended insertion (intron 1) is present. In our study the frequency of P2 allele (PvuII RFLP) in FH patients did not differ from normocholesterolemic controls.
家族性高胆固醇血症（FH）是一种常染色体显性代谢紊乱疾病，由低密度脂蛋白受体（LDLR）基因的不同突变引起。我们通过使用Xbal、BgIII和PvuII酶的限制性片段多态性（RFLP）分析了13个FH家族（23名患者）和36名胆固醇正常的受试者。在一名患者中，通过Xbal消化在LDLR的3'端发现了一条额外的4.4 kb条带，并且已证明这是一种“从头”突变形式。在LDLR基因的5'端，在两个FH家族中鉴定出了一种复合突变。Xbal RFLP产生了一条24.5 kb的额外条带，通过BgIII消化发现了另一条17.5 kb的额外条带。有人提出存在3.3 kb延伸缺失（内含子3）和4.8 kb延伸插入（内含子1）的同时发生情况。在我们的研究中，FH患者中P2等位基因（PvuII RFLP）的频率与胆固醇正常的对照组没有差异。
