分析低密度脂蛋白受体基因序列的差异在马来西亚家族性高胆固醇血症患者。
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穆罕默德女士,阿哈提卜,Zahri可Sasongko TH,易卜拉欣,尤索夫Z, Zilfalil英航
分析低密度脂蛋白受体基因序列的差异在马来西亚家族性高胆固醇血症患者。
BMC医学麝猫。2011年3月19日,40分。doi: 10.1186 / 1471-2350-12-40。
- PubMed ID
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21418584 (在PubMed]
- 文摘
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背景:家族性高胆固醇血症是一种遗传疾病主要是由低密度脂蛋白受体基因缺陷引起的。很少有家族性高胆固醇血症和有限分析执行在马来西亚,因此底层变异在很大程度上仍未知。我们研究了一组154名无关的FH患者从马来西亚北部地区(吉兰丹)。LDLR基因的启动子区域和外显子男童被变性高效液相色谱法检测筛选短删除和核苷酸替换,并通过多路复用ligation-dependent探针扩增检测大重组。结果:共有29个基因序列变异被报道在117年(76.0%)的研究主题。八个不同的突变(1大重排,1短删除,5错义突变和1剪切位点突变),和21变体。八个基因序列变异首次被报道,他们发现在家族hypercholesterolemic患者中,但不是在控制(p。Asp100Asp, p。Asp139His, p。Arg471Gly c。1705 + 117 T > G、c。1186 + 41 t >, 1705 + 112 c > G, Dup外显子12和p.Trp666ProfsX45)。p的发病率。Arg471Gly变异为11%。 Patients with pathogenic mutations were younger, had significantly higher incidences of cardiovascular disease, xanthomas, and family history of hyperlipidemia, together with significantly higher total cholesterol and low density lipoprotein levels than patients with non-pathogenic variants. CONCLUSIONS: Twenty-nine gene sequence variants occurred among FH patients; those with predicted pathogenicity were associated with higher incidences of cardiovascular diseases, tendon xanthomas, and higher total and low density lipoprotein levels compared to the rest. These results provide preliminary information on the mutation spectrum of this gene among patients with FH in Malaysia.