来自圣彼得堡的一名家族性高胆固醇血症患者低密度脂蛋白受体基因的新型缺失。
A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg.
作者信息
Mandelshtam M J, Lipovetskyi B M, Schwartzman A L, Gaitskhoki V S
机构信息
Department of Molecular Genetics, Institute for Experimental Medicine, St. Petersburg, Russian Federation.
出版信息
Hum Mutat. 1993;2(4):256-60. doi: 10.1002/humu.1380020404.
PMID:8401534
Abstract
Fifty St. Petersburg patients with type IIa hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-density lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove completely exons 4, 5, and 6 from the LDLR gene, coding for the largest part of the receptor ligand-binding domain.
摘要
对50名患有IIa型高脂蛋白血症的圣彼得堡患者进行了低密度脂蛋白受体（LDLR）基因结构重排的筛查。发现了一处长度约为5千碱基（kb）的新型缺失。该缺失似乎完全去除了LDLR基因中的第4、5和6外显子，这些外显子编码受体配体结合域的大部分。
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