ApoE gene with age-related diseases in humans and ApoE knockout mice in the study of human diseases of old age.docVIP
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ApoE gene with age-related diseases in humans and ApoE knockout mice in the study of human diseases of old age
[Keywords:] cardiovascular and cerebrovascular diseases; ApoE gene; polymorphism; ApoE knockout mice; animal model
Cardiovascular disease etiology and pathogenesis is very complex, viral factors, genetic factors, and immune function of chromosomes are associated. Number of genes have been identified with the occurrence of cardiovascular and cerebrovascular diseases, in which apolipoprotein E (Apo E) Gene cardiovascular and cerebrovascular diseases was increasing recognition of the role. abroad through large-scale analysis of the population, found that ApoE gene polymorphism and age of disease Xixixiangguan (1).
1 ApoE gene and expression products
Apo E gene is located on the long arm of human chromosome No. 19 l3 zone 2 with (19q132), the length of 3.7 kb, contains 4 exons and 3 introns. The cDNA length of 1.163 kb, including gene products were initially 317 amino acid protein, containing 18 amino acids by a signal peptide cleavage into the mature 299 amino acid protein (2). ApoE protein was synthesized by the liver, in human tissues are expressed in cells, but In the brain, kidney, spleen and macrophages have high expression in (3). Apo E gene has three alleles: 2, 3 and 4, form 6 different genotypes: 3 homozygous ( 2/2, 3/3, 4/4) and three heterozygous (3/4, 2/3, 2/4). according to their phenotype, genotype into E2 (2 / 2, 3 / 2 ); E3 genotype (3/3); E4 genotype (4 / 3, 4 / 2, 4 / 4). homozygous 3 / 3 as the wild-type ApoE ApoE3.E3 is, the genotype frequency for different ethnic and regional differences. in the general population, E2 accounted for about 8%, E3 about 78%, E4 accounted for 14% (4). E2 and E3 and E4 genotype compared to 112 and 158 amino acid residues (Cys / Arg) replace each other. mutation results, E3 and E4 genotype E2 genotype than low density lipoprotein receptor (LDL R) is 100 times higher affin
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