Detection of apolipoprotein B-100 gene mutation in patients of primary hypercholesterolemia families.
- VernacularTitle:原发性高胆固醇血症家系成员载脂蛋白B-100基因突变的检测
- Author:
Ruimin YU
;
Yubing ZHOU
;
Jiansheng FENG
;
Qilu CAI
;
Chunlan LIN
- Publication Type:Journal Article
- Keywords:
hypercholesterolemia;
apolipoprotein B
- From:
Chinese Journal of Practical Internal Medicine
2001;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect genetic mutation of apolipoprotein B-100(apoB-100)in patients with primary hypercholesterolemia.Methods One special segment of apoB-100 gene from nucleotide 10549 to 10895 was amplified by polymerase chain reaction(PCR).The PCR products were denatured and hybridized with specific aligonucleotide labeled with digoxigenin,and were analyzed by single strand conformation polymorphism(SSCP)to detect the apoB-100 gene mutation 3531CGC→CGT or other mutations.Results Overall 41 members of 11 primary hypercholesterolemia families were detected,but the above genetic mutation was not detected.Conclusion This genetic mutation is unlikely to exist or of significantly low incidence in Chinese population,and might not be the main cause of primary hypercholesterolemia in the 11 primary hypercholesterolemia families.
