A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
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DOI：
10.1007/s004390050473
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发表时间：
1997-07-01
期刊：
影响因子：
5.3
通讯作者：
Raal, FJ
中科院分区：
文献类型：
--
作者：
Kotze, MJ;deVilliers, JNP;Raal, FJ
在塞浦路斯杂合子家族性高胆固醇血症患者的低密度脂蛋白受体基因中发现了两个新的突变Q363 X和D365 E。分别用Ava Ⅱ和PVu Ⅱ对指示病例和她的7个家庭成员进行限制性内切酶分析，证明两个外显子8突变在家庭内以顺式传递。疾病表型可能是由stop-363突变引起的;这将导致截短的蛋白质，其可能在细胞外空间中快速降解。
Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by using AvaII and PVuII respectively, demonstrated that the two exon 8 mutations are transmitted in cis within the family. The disease phenotype is probably caused by the stop-363 mutation; this would result in a truncated protein that would probably be rapidly degraded in the extracellular space.