FAMILIAL DEFECTIVE APOLIPOPROTEIN-B-100 - COMPARISON WITH FAMILIAL HYPERCHOLESTEROLEMIA IN 18 CASES DETECTED IN MUNICH

被引：104

作者：

SCHUSTER, H ^{[1
]}

RAUH, G ^{[1
]}

KORMANN, B ^{[1
]}

HEPP, T ^{[1
]}

HUMPHRIES, S ^{[1
]}

KELLER, C ^{[1
]}

WOLFRAM, G ^{[1
]}

ZOLLNER, N ^{[1
]}

机构：

[1] CHARING CROSS SUNLEY MED RES CTR,LONDON,ENGLAND

来源：

ARTERIOSCLEROSIS | 1990年 / 10卷 / 04期

关键词：

Apolipoprotein B; Familial defective apolipoprotein B-100; Hypercholesterolemia;

D O I：

10.1161/01.ATV.10.4.577

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

It has recently been suggested that a substitution of glutamine for arginine at residue 3500 of apolipoprotein (apo) B-100 causes familial defective apo B-100 (FDB), an autosomal, dominantly inherited disorder, which leads to increased serum cholesterol levels. From a sample of 243 patients from Munich with type Ha hyperlipoproteinemia (HL), we have identified eight individuals with the apo B-100 arginine(3500)→glutamine mutation. In a group of 57 subjects with defective low density lipoprotein receptor (LDLR), no mutant apo B alleles were detected. The frequency of FDB in patients with type IIa HL was estimated to be 3%. In the kindreds of three of the probands, 10 additional carriers of the apo B mutation were identified. Clinical and biochemical data reveal a striking similarity between patients with FDB and those with a defect in the LDLR gene. Our data support previous findings that FDB is a serious disorder causing premature atherosclerosis.

引用

页码：577 / 581

页数：5

共 14 条

[1] THE COMPLETE SEQUENCE AND STRUCTURAL-ANALYSIS OF HUMAN APOLIPOPROTEIN B-100 - RELATIONSHIP BETWEEN APO-B-100 AND APO-B-48 FORMS [J].