OBJECTIVE: To study ApoB gene genetic polymorphism of Han nationality and Mongolian nationality in midwest area of Inner Mongolia. METHODS: Some unrelated individuals of Han nationality and Mongolian nationality in midwest area of Inner Mongolia were selected. Polymerase chain reaction-restriction fragment length polymorphism technology was used to check the presence of Xba I (X+) and EcoR I (E-) sites of rare alleles. The genotype frequency, allelic frequency and population genetics parameters were calculated. RESULTS: The frequencies of Xba I (X+) and EcoR I (E-) rare alleles were 2% and 4.6% in Han population. There was no Xba I (X+) or EcoR I (E-) rare alleles found in Mongolian nationality. CONCLUSION The allelic frequencies of ApoB gene Xba I and EcoR I sites are very different in different races. These sites may be used in identification of ethnicity.
Alleles ; Apolipoprotein B-100/genetics* ; Asian People/genetics* ; China ; Ethnicity ; Gene Frequency ; Genotype ; Humans ; Mongolia ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length

The work was aimed to investigate the differential expressions of lipid metabolism related genes in the early stage of atherosclerosis in the young apolipoprotein E deficient (apoE(-/-)) mice at different ages with normal chow diet. The genotypes of mice were identified by using multiplex polymerase chain reaction (multi-PCR) analysis. The semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR) and real-time quantitative RT-PCR were used to analyze the expressions of lipid metabolism related genes in the liver of apoE(-/-) and age-matched wild type (WT) mice of 14-day old, 1-month old, 2-month old, 3-month old. The serum total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) contents were assayed using COD-PAP and GPO-PAP methods. The serum apolipoprotein B100 (apoB100) content was quantitated by immune turbidimetry. The hearts were perfusion-fixed in 4% formaldehyde, infiltrated with 30% gum sucrose for 24 h at 4 °C, and embedded in OCT compound. The aortic sinus tissues were serially sectioned at -15 °C, stained with Sudan IV, and counterstained with light green. The results were shown as follows. Compared with that in WT mice, the mRNA levels of apoA I and apoA IV in apoE(-/-) mice aged from 14-day old to 3-month old changed prominently (P<0.05), with apoA I up-regulated and apoA IV down-regulated. At the age of 1 month, the expression of apoB100 in apoE(-/-) mice was higher than that in WT mice (P<0.05). The expression of apoA V was up-regulated (P<0.05) and there was obvious lipid deposition in the aortic intima in apoE(-/-) mice at the age of 2 months. The expressions of fatty acid translocase (Fat/CD36) and angiopoietin-like protein 3 (Angptl 3) in apoE(-/-) mice were higher than those in WT mice at the age of 3 months (P<0.05), while the expressions of peroxisome proliferator-activated receptor α (PPARα), liver X receptor α (LXRα), carnitine palmitoyl transferase I (CPT I) and acyl coenzyme A oxidase 1 (ACOX1) showed no significant changes. The serum TC, TG, LDL-C and HDL-C contents in apoE(-/-) mice aged from 14-day old to 3-month old were higher than those in age-matched WT mice. apoE(-/-) mice showed a marked increase in serum apoB100 content, consistent with the trend of serum LDL-C content and apoB100 mRNA content in the liver. The results suggest that the mRNA expressions of apoA I, apoA IV, apoA V, apoB100 and Angptl 3 in apoE(-/-) mice change significantly compared with those in WT mice, and these genes might be relevant to the complicated lipid metabolism network, and involved in the early stage of atherogenesis.
Animals ; Apolipoprotein A-I ; metabolism ; Apolipoprotein B-100 ; blood ; Apolipoproteins A ; metabolism ; Apolipoproteins E ; genetics ; Atherosclerosis ; genetics ; Gene Expression ; Lipid Metabolism ; genetics ; Lipoproteins, HDL ; blood ; Lipoproteins, LDL ; blood ; Liver ; metabolism ; Mice ; Mice, Knockout ; Triglycerides ; blood

<b>OBJECTIVEb>To investigate the Arg16Gly polymorphism of beta2-adrenergic receptor (beta2AR) gene and its association with endogenous hypertriglyceridemia (HTG) in Chinese population.

<b>METHODSb>Three hundred and forty one subjects including 100 HTG patients and 241 healthy controls from a population of Chinese Han nationality in Chengdu area were studied using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs).

<b>RESULTSb>The frequencies of Gly allele at the Arg16Gly locus in combined group was 0.446, and were 0.427 and 0.490 in normal and HTG group, respectively. No significant difference was found in both allele and genotype frequencies between normal control and HTG group. The frequency of Gly allele at the Arg16Gly locus in beta2-adrenergic receptor gene in the population (0.446) was similar to that of Japanese (0.505), higher than that of American white(0.248), and lower than that of Polish population (0.633). In normal controls, subjects with genotype Arg/Arg had a higher concentration of serum TG and apoB100, and lower apoAII levels, when compared with those with genotypes Arg/Gly or Gly/Gly, respectively (vs. Arg/Gly for TG, vs. Gly/Gly for apoB100 and apoAII, respectively, P<0.05). In HTG group, subjects with genotype Arg/Arg had higher serum TC and low-density lipoprotein cholesterol levels when compared with those with Gly/Gly genotype (5.36+/-0.74 mmol/L vs. 4.77+/-1.07 mmol/L,P<0.05;3.03+/-0.70 mmol/L vs. 2.38+/-1.10 mmol/L,P<0.05).

<b>CONCLUSIONb>These results suggest that the Arg16Gly polymorphism in beta2-adrenergic receptor gene are not only associated with serum TG,apoB100 and apoAII levels in the healthy Chinese subjects in Chengdu area, but also with serum TC and low-density lipoprotein cholesterol levels in subjects with endogenous hypertriglyceridemia. The Arg16Gly polymorphism in beta2-adrenergic receptor gene may be associated with TG and/or cholesterol metabolism in Chinese Han population.

Adult ; Aged ; Apolipoprotein B-100 ; blood ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertriglyceridemia ; blood ; genetics ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, Adrenergic, beta-2 ; genetics ; Triglycerides ; blood

<b>OBJECTIVEb>To explore the relationship between the expression characteristics of lipid metabolism-related genes in the liver and early atherosclerotic lesions in apolipoprotein E and low density lipoprotein receptor gene double knockout (apoE(-/-)/LDLR(-/-)) mice.

<b>METHODSb>RT-PCR was used to detect the differential expression of lipid metabolism-related genes in the liver of apoE(-/-)/LDLR(-/-) and wild type (WT) mice. Serum total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) level as well as aortic morphology were also analyzed.

<b>RESULTSb>Among the 11 lipid metabolism-related genes, apolipoprotein B100 (apoB100) mRNA levels were significantly higher in apoE(-/-)/LDLR(-/-)mice compared with WT mice. At 14 days, 1, 2 and 3 months of age, the level of mRNA expression were 1.55, 1.47, 1.50 and 2.42 folds of those of the age matched WT mice respectively. The fatty acid transporter (FAT/CD36) mRNA expression levels were higher in 14-day and 3-month old mice at 1.30 and 1.35 folds of those of the age matched WT mice, respectively. Apolipoprotein A IV (apoA IV) and Apolipoprotein AV (apoAV) mRNA levels were significantly down-regulated (0.89 fold decrease in 14-day, and 0.90 folds decrease in 3-month, respectively). The mRNA expression levels of apolipoprotein AI (apo AI), apolipoprotein F (apo F), peroxidase proliferator-activated receptor alpha (PPAR-alpha), liver X receptor alpha (LXRalpha), angiopoietin-like protein 3 (ANGPTL3), acyl-coenzymeA oxidase 1 (ACOX1) and carnitine palmitoyl transferase 1 (CPT1) had no significant changes. Serum TC, TG and LDL-C were higher than those of age matched WT mice at 7, 2 and 30 folds, respectively. Furthermore, apoE(-/-)/LDLR(-/-) mice demonstrated typical early atherosclerotic lesions at sinus and root regions of aorta in an age dependent manner.

<b>CONCLUSIONb>Alterations of the expression of lipid metabolism-related genes in liver play important roles in the development of AS in the apoE(-/-)/LDLR(-/-) mice at early ages.

Animals ; Aorta ; pathology ; Apolipoprotein A-V ; Apolipoprotein B-100 ; biosynthesis ; genetics ; Apolipoproteins ; biosynthesis ; genetics ; Apolipoproteins A ; biosynthesis ; genetics ; Apolipoproteins E ; deficiency ; Atherosclerosis ; etiology ; metabolism ; pathology ; CD36 Antigens ; biosynthesis ; genetics ; Gene Expression ; Lipid Metabolism ; Liver ; metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; RNA, Messenger ; metabolism ; Receptors, LDL ; deficiency

<b>OBJECTIVEb>To investigate the relationship between G1025C (Try316Ser) polymorphism in exon 8 of apolipoprotein H (apoH) gene and stroke and to evaluate the effect of G1025C(Try316Ser) polymorphism on plasma lipid levels in Changsha Hans.

<b>METHODSb>G1025C (Try316Ser) polymorphism in apoH gene was determined by PCR-single strand conformation polymorphism analysis and DNA sequencing in 100 healthy controls, 260 patients with stroke, and 20 stroke pedigrees. Serum antiphospholipid antibody (APA) levels were tested by enzyme linked immunosorbent assay (ELISA). Plasma lipid levels were measured by routine methods.

<b>RESULTSb>No statistically significant differences were found in frequencies of genotypes and alleles of G1025C (Try316Ser) polymorphism between the controls and stroke patients. The serum levels of TG in the GC genotype of cerebral infarction patients and controls were markedly higher than those in GG genotype.

<b>CONCLUSIONb>There was no association betweenG1025C (Try316Ser) polymorphism and stroke in Changsha Hans. G1025C (Try316Ser) polymorphism was associated with plasma lipid metabolism in Changsha Hans.

Adult ; Aged ; Alleles ; Apolipoprotein A-I ; blood ; Apolipoprotein B-100 ; Apolipoproteins B ; blood ; Base Sequence ; Cerebral Hemorrhage ; complications ; Cerebral Infarction ; complications ; China ; Cholesterol ; blood ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genotype ; Glycoproteins ; genetics ; Humans ; Lipids ; blood ; Lipoprotein(a) ; blood ; Male ; Middle Aged ; Mutation, Missense ; Polymorphism, Genetic ; Polymorphism, Single-Stranded Conformational ; Stroke ; blood ; etiology ; genetics ; Triglycerides ; blood ; beta 2-Glycoprotein I

<b>OBJECTIVEb>To screen the mutations of the low density lipoprotein receptor (LDLR) gene in a familial hypercholesterolemia (FH) family, and analyze the LDL-uptaking function of LDLR on lymphocytes of patients.

<b>METHODSb>Genomic DNA was extracted from four affected members in a Chinese FH family. The presence of apoB100 gene R3500Q mutation which results in familial defective apolipoprotein B100 (FDB) was excluded first. Fragments of the LDLR gene were amplified by touch-down polymerase chain reaction (Touch-down PCR) and analyzed by single-strand conformational polymorphism (SSCP). The suspect fragments of the LDLR gene were cloned and sequenced. Furthermore, the lymphocytes bounded with fluorescent-labeled LDL (DiI-LDL) were measured by fluorescence flow cytometry.

<b>RESULTSb>A nonsense mutation was identified in exon 10 of LDLR gene. This mutation gave rise to a premature stop codon (W462X), resulting in the absence of most of the LDLR domains. It was detected in all the affected members of the FH family. The ratios of functional LDLR in lymphocytes from patients and normal controls were 63.7% and 77.3% respectively. As a result, the activity of the functional LDLR in patients was just 82.4% of that in the normal controls.

<b>CONCLUSIONb>It is possible that the W462X mutation of LDLR gene is the main cause for the disease in this family.

Adult ; Apolipoprotein B-100 ; genetics ; Base Sequence ; Case-Control Studies ; DNA Mutational Analysis ; Deoxyribonuclease I ; metabolism ; Exons ; genetics ; Female ; Flow Cytometry ; Humans ; Hyperlipoproteinemia Type II ; genetics ; metabolism ; pathology ; Lipoproteins, LDL ; metabolism ; Lymphocytes ; metabolism ; Male ; Middle Aged ; Mutation ; Pedigree ; Receptors, LDL ; genetics ; metabolism