MOLECULAR DEFINITION OF THE EXTREME SIZE POLYMORPHISM IN APOLIPOPROTEIN(A)

被引:310
作者
LACKNER, C
COHEN, JC
HOBBS, HH
机构
[1] UNIV TEXAS,SW MED CTR,DEPT MOLEC GENET,5323 HARRY HINES BLVD,DALLAS,TX 75235
[2] UNIV TEXAS,HLTH SCI CTR,SW MED SCH,DEPT INTERNAL MED,DALLAS,TX 75235
[3] UNIV TEXAS,HLTH SCI CTR,SW MED SCH,DEPT MOLEC GENET,DALLAS,TX 75235
关键词
D O I
10.1093/hmg/2.7.933
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Lipoprotein(a) [Lp(a)], an atherogenic lipoprotein, consists of an LDL particle complexed with a large glycoprotein, apolipoprotein(a) [apo(a)]. Apo(a) is one of the most polymorphic expressed sequences in the human genome. The glycoprotein varies in size over a approximately 500 kDa range due to length polymorphisms in the apo(a) gene. The region of the apo(a) gene responsible for this size polymorphism was cloned and characterized. Apo(a) alleles of different length were found to contain varying numbers of a subset of a tandemly-repeated, 5.5 kilobase, kringle IV-encoding sequences. A total of 34 apo(a) alleles and glycoproteins could be distinguished using pulsed-field gel electrophoresis and genomic blotting and immmunoblotting. Molecular analysis of a newly-generated apo(a) allele of different length suggests that the high degree of length polymorphism is in part due to recombination between sister chromatids.
引用
收藏
页码:933 / 940
页数:8
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