Evaluating Superhydrophobic Surfaces under External Pressures using Quartz Crystal Microbalance.

The performance of hydrophobic surfaces under hydraulic pressures is critical to a wide range of practical applications such as drag reduction of seaboard vessels and design of microfluidic devices. This research focuses on the evaluation of drag reduction and velocity slip of hydrophobic surfaces and coatings under external hydrostatic pressures using an acoustic wave device (i.e., quartz crystal microbalance, QCM). The correlation between the resonant frequency shift of a QCM device and drag reduction of hydrophobic surface coated on the QCM was theoretically developed and the model was validated by comparing the measurement results of the drag reduction of an epoxy-based superhydrophobic coating with those measured by a rheometer. The QCM device was further employed to study the wetting state transition and drag reduction of water on a micropillar array based superhydrophobic surface under elevated hydrostatic pressures. It was found that the transition from Cassie to Wenzel states occurred at a critical hydrostatic pressure which was indicated by a sudden frequency drop of the QCM device. In addition, the effective heights of the meniscus at the liquid/air interface increased with the external pressure before the transition took place. The drag reduction induced by the micropillar surface decreased with the increasing hydrostatic pressures. It was demonstrated that the developed QCM based technology provides a low cost, simple, and reliable tool for evaluating hydrophobic performance of various surfaces under external hydrostatic pressures.

Recombinant keratinocyte growth factor 1 in tobacco potentially promotes wound healing in diabetic rats.

Keratinocyte growth factor 1 (KGF1) is a growth factor that promotes epidermal cell proliferation, migration, differentiation, and wound repair. It is expressed at low levels in a form of inclusion body in E. coli. In order to increase its expression and activity, we produced tobacco plants expressing KGF1 via Agrobacterium-mediated transformation using a potato virus X (PVX)-based vector (pgR107). The vector contained the sequence encoding the KGF1 gene fused with a green florescence protein. The recombinant plasmid was introduced into leaf cells of Nicotiana benthamiana (a wild Australian tobacco) via Agrobacterium-mediated agroinfiltration. As determined by fluorescence and Western blot of leaf extracts, the KGF1 gene was correctly translated into the tobacco plants. The recombinant KGF1 was purified from plant tissues by heparin affinity chromatography, and cell proliferation in NIH/3T3 cells was stimulated by the purified KGF1. The purified KGF1 was also applied to the wounds of type-II diabetic rats. KGF1 had accumulated to levels as high as 530 µ g/g fresh weight in the leaves of agroinfected plants. We show that plant-derived KGF1 can promote the proliferation of NIH/3T3 cells and have significant effects on the type-II diabetic rat. The present findings indicated that KGF1 from tobacco maintains its biological activity, implying prospective industrial production in a plant bioreactor.

[Status of malnutrition and its influencing factors in children under 5 years old in Guangnan District of Yunnan Province in 2009 - 2010].

OBJECTIVE: To analyze the status of malnutrition and its influencing factors in children under 5 years old in Guangnan District of Yunnan Province in 2009 - 2010. METHODS: By the random cluster sampling and stratified sampling methods, 1002 children within 5 years old in rural areas were selected from poverty-stricken counties in Yunnan Province. The questionnaire survey including questionnaire, anthropometric measurement and dietary survey such as height and weight were used respectively for the survey. Z score was used for evaluating the nutritional status. The prevalence of malnutrition was calculated by statistics software. Multiple factors analysis was finished by non condition Logistic regression in software. RESULTS: During 2009 - 2010, of all children under the age of 5 years old, the underweight rate is 18.8%, stunted growth rate is 34.3% and emaciation rate is 3.1% in impoverished rural area of Yunnan Province. Removing other variables, the result indicated: (1) Comparing with these children under 2 years old who are provided with breastfeeding, the children under 2 years old who are not given breastfeeding are more possible to get malnutrition. (2) The children under 2 years old who were added more vegetable and fruit supplement are less possible to get malnutrition than those children who were added less vegetable and fruit supplement during the past 7 days. (3) The children under 2 years old with good conditions are less possible to get malnutrition than the children with normal conditions or bad conditions. CONCLUSION: Malnutrition in children under 5 years old in pour rural areas of Yunnan province should not be ignored. The main influencing factors of children malnutrition include feeding ways, increasing supplementary food, and the conditions compared with other children under 2 years old.

[Construction and transduction of hNUDC shRNA interference lentiviral vector].

AIM: To construct a lentiviral vector carrying human nuclear distribution protein C (hNUDC)-specific shRNA (sh-NUDC-F) and knock down hNUDC expression in Dami cells by infection of the lentivirus. METHODS: After labeling of green fluorescent protein (GFP), sh-NUDC-F was cloned into lentiviral vector pRRL-cPPT-CMV-X-PRE-SIN, and the high-quality plasmid was transfected into 293T cells to produce lentiviral particles by the calcium phosphate method. After high-speed centrifugation, lentiviral particles were collected and determined for its titer. The high-titer lentiviral particles were then transduced into Dami cells. By detecting the expression of GFP in lentiviral vector using a microscope, the transduction efficiency was readily figured out. And hNUDC protein level was detected by Western blotting. RESULTS: hNUDC was totally knocked down by the efficient transduction of Dami cells with the lentivirus carrying sh-NUDC-F. CONCLUSION: Lentiviral vector containing sh-NUDC-F can be successfully packaged in 293T cells and then efficiently transduced into Dami cells to silence hNUDC gene.

[The construction of NUDC shRNA interference vector with red fluorescence protein].

AIM: Used RFP gene to construct a RNA interference vector for convenience to obtain the good effective hairpins sequence. METHODS: NUDC and RFP genes were cloned into pDs vector separately, resulting in pDs-NUDC- RFP. as above, human U6 promoter and 9 hairpins sequence of NUDC were cloned into the pDs- NUDC-RFP vector separately.The RNA interfererence vectors target to 9 points of NUDC were constructed. Construct- ed recombinant vectors and then were identified by restrictive digestion and DNA sequencing.293T cells were transfected with the recombinant DNA samples by the liposome complex method, and then fluorescence photographs were taken. RESULTS: Enzyme digestion and DNA sequencing showed that the target gene and shRNA fragments were correctly inserted in pDs vector. fluorescence photographs showed that shNUDC-A is the best effective fragment. CONCLUSION: The NUDC gene targeted shRNA and its vector are successfully constructed.

Increased detection of metastatic melanoma in pediatric sentinel lymph node biopsies using RT-PCR on paraffin-embedded tissue.

Sentinel lymph node (SLN) biopsy has become integral in the staging of patients with melanoma, and entails detailed histologic examination with immunohistochemistry. Reverse transcriptase-polymerase chain reaction (RT-PCR) for tyrosinase transcripts has been used to increase sensitivity but requires a dedicated piece of tissue that does not undergo histologic examination. We developed a nested RT-PCR assay for tyrosinase applicable on paraffin-embedded tissue and applied this to a series of SLNs from pediatric patients with melanoma. Thirty-six SLNs from 4 females and 4 males were included in the study. Eight lymph nodes with reactive changes were included as controls. SLNs were examined histologically and immunohistochemically for S100, tyrosinase, and MART1. Seven patients had between 1 and 4 morphologically-positive SLNs and one patient had negative SLNs (HISTO+; 12/36, 33%). Three lymph nodes were excluded from molecular analysis owing to inadequate RNA, and 29 of the remaining 33 nodes were positive (MOL+; 88%). All patients had at least 1 SLN positive by RT-PCR. Twelve were HISTO+/MOL+; 17 were HISTO-/MOL+; and 4 were HISTO-/MOL-. All control lymph nodes were negative for tyrosinase transcripts. The application of RT-PCR for tyrosinase to paraffin-embedded tissue significantly increased the number of positive SLNs and upstaged one patient from negative to positive. The prognostic implications of such findings require further investigation, especially in the pediatric age group. Nonetheless, this technique provides a useful tool to determine the clinical significance of RT-PCR positivity in melanoma SLNs.

The intermediate filament nestin is highly expressed in normal human podocytes and podocytes in glomerular disease.

The intermediate protein nestin is expressed in proliferating embryonic tissues and adult tissues undergoing repair. Recently this protein been identified in rodent podocytes. Its role in this cell is unknown, since podocytes are believed to be terminally differentiated and nondividing. We report the first study of nestin in human kidney. Nestin expression in normal mature human glomeruli was confined to podocytes. In developing kidney, nestin was detected in metanephric blastema and in podocytic cells at all stages of glomerular development. Nestin co-localized with vimentin but not with actin or heavy chain myosin IIA, using a mouse podocyte cell line. Knockdown of nestin in a murine podocyte cell line failed to produce any obvious phenotypic change or alteration in vimentin distribution but was associated with increased cell cycling. A survey of glomerular diseases failed to identify any condition lacking nestin, indicating that the protein is critical for some aspect of podocyte function. Perhaps through an association with vimentin, nestin serves to bolster the mechanical strength of these cells that experience high tensile stress during glomerular filtration. Nestin was also expressed in podocytes that are reported to be 'dysregulated' (lacking podocyte markers). Thus, nestin has a potential as a reliable podocyte marker, even for podocytes that are not completely differentiated (for example, during development) or 'dedifferentiated' in glomerular disease.

[Analysis on genetic defects of patients with azoospermia and severe oligospermia--report of 2 novel abnormal karyotypes].

G banding karyotype analysis of peripheral lymphocytes in 217 patients with azoospermia or severe oligospermia were performed and the Y-chromosome AZFc region from 7 cases with Y chromosome abnormality was amplified by polymerase chain reaction (PCR). Out of 187 cases with azoospermia, 77 patients or 41.18% had chromosome abnormalities, including number and structural aberrations, heteromorphic chromosomes (Y chromosome heteromorphisms and pericentric inversion of chromosome 9) and 46, XX sex reversal. Two novel abnormal karyotypes were found: 46, XY, t(6; 14)(p21; p13) and 46, XY, t(8; 12)(p21; q24). Out of 30 patients with severe oligospermia, 4 had chromosome abnormalities, including structural aberration and 46, XX sex reversal. Therefore, aberration of the sex chromosome causes the most serious spermatogenic failure and certain breakpoints in the autosomes may also affect spermatogenesis. The deletion of AZFc also affects spermatogenesis.

Sequential expression of type IV collagen networks: testis as a model and relevance to spermatogenesis.

The six alpha chains of type IV collagen are organized into three networks: alpha1/alpha2, alpha3/alpha4/alpha5, and alpha1/alpha2/alpha5/alpha6. A shift from the alpha1/alpha2 to the alpha3/alpha4/alpha5 network occurs in the developing glomerular basement membrane, but how the alpha1/alpha2/alpha5/alpha6 network fits into this sequence is less clear, because the three networks do not colocalize. Here, we studied the seminiferous tubule basement membrane of normal canine testis where all three networks do colocalize: the alpha1/alpha2 network is expressed from birth, the alpha1/alpha2/alpha5/alpha6 network by 5-6 weeks of age, and the alpha3/alpha4/alpha5 network by 2 months of age. A canine model of Alport syndrome allowed study of the absence of alpha3/alpha4/alpha5 and alpha1/alpha2/alpha5/alpha6 networks in testis. In Alport dogs, the seminiferous tubule basement membrane was thinner than in controls. Spermatogenesis began at the same time as with normal dogs; however, the number of mature sperm was significantly reduced in Alport dogs. Thus, it would appear that alpha3/alpha4/alpha5 and alpha1/alpha2/alpha5/alpha6 networks are not essential for onset of spermatogenesis, but long-term function may be compromised by the loss of one or both networks. This situation is analogous to the glomerular basement membrane in Alport syndrome. In conclusion, testis can serve as a model system to study the sequence of type IV collagen network expression.

Type IV collagen induces podocytic features in bone marrow stromal stem cells in vitro.

Bone marrow-derived stromal stem cells (BMSC) can differentiate along a variety of mesenchymal lines, including mesangial cells. For determining whether BMSC can be induced to differentiate along podocytic lines in vitro, canine BMSC were cultured on plastic, type I collagen, and NC1 hexamers of type IV collagen from normal and Alport canine glomerular basement membrane. Results were compared with a mouse podocyte cell line. In the case of the podocyte line, differentiation occurred on all three matrices as indicated by the expression of synaptopodin and CD2-associated protein (CD2AP) and organization of myosin heavy chain IIA into a linear pattern. BMSC proliferated equally well on all matrices, but cells that were grown on type IV collagen NC1 hexamers became larger and stellate. Evidence for podocytic differentiation occurred on all three collagen matrices as indicated by the redistribution of myosin IIA to a linear pattern and expression of synaptopodin, CD2AP, and alpha-actinin. A punctate distribution of CD2AP was seen only in cells that were grown on normal and Alport glomerular basement membrane NC1 hexamers. Differentiated podocytes expressed the alpha1, alpha2, and alpha5 chains of type IV collagen but at higher levels in cells that were grown on NC1 hexamers. Similar results were obtained in BMSC for the alpha1 and alpha2 chains only. The alpha3, alpha4, and alpha6 chains were never detected in the podocyte line or BMSC. These results indicate that BMSC undergo a degree of podocytic differentiation in vitro and greater when grown on type IV collagen NC1 hexamers than type I collagen. Alport and normal NC1 hexamers seem equally permissive to BMSC growth and differentiation, suggesting that these processes are not influenced specifically by the alpha3/alpha4/alpha5 network. BMSC may be useful in the development of stem cell-based reconstitution of glomeruli that are damaged by disease and for gene therapy of genetic glomerular diseases such as Alport syndrome.

Regulation of collagen type IV genes is organ-specific: evidence from a canine model of Alport syndrome.

BACKGROUND: Despite advances in knowledge about collagen type IV at the protein level, little is known about expression of its six alpha chains. X-linked Alport syndrome provides a system to study collagen type IV gene expression within a setting of disturbed protein synthesis. Mutations in the alpha5 chain result in loss of the alpha3/alpha4/alpha5 and alpha1/alpha2/alpha5/alpha6 networks from the kidney, with progressive renal disease. METHODS: We used a canine model of Alport syndrome to measure expression of the six type IV collagen chains from 11 days to 7(1/2) months of age. We determined to what extent message levels in kidney change over time, and what correlation exists with clinical and pathologic changes in glomeruli, and the primary mutation. The latter was evaluated by examining testis, an organ normally containing the same collagen type IV networks but uninvolved by disease. RESULTS: The alpha1 to alpha6 mRNAs were expressed at all time points in normal canine kidney. By comparison to normal, in Alport dog kidney, the alpha1 and alpha2 mRNAs were up-regulated after 2 months of age, alpha3 and alpha4 mRNAs were down-regulated by 2 months of age, and the alpha5 mRNA was almost undetectable at any time. In testis, all mRNAs were expressed at comparable levels in normal and affected dogs other than the alpha5 chain, which was not expressed in affected testis. CONCLUSION: Normal expression of collagen type IV is under control mechanisms specific to each organ and to individual chains. The altered expression in canine Alport syndrome is not the direct result of the mutation, since these changes do not occur in all organs nor are they present from birth. Instead, collagen type IV expression is influenced by disease, with down-regulation of alpha3 and alpha4 chains temporally related to the onset of proteinuria, and up-regulation of alpha1 and alpha2 chains to glomerulosclerosis. This dysregulation of the alpha3 and alpha4 chains is unique to this Alport model, and suggests an unidentified mechanism linking pathology with down-regulation of expression of these two chains.

Carriers of three polymorphisms of cholesteryl ester transfer protein gene are at increased risk to coronary heart disease in a Chinese population.

BACKGROUND: The cholesteryl ester transfer protein (CETP) is a key participant in the reverse transport of cholesterol from the peripheral tissue to the liver and the polymorphism in the CETP gene may therefore alter the susceptibility to coronary heart disease (CHD). The aim of the present study was to screen the CETP gene for new single nucleotide polymorphisms (SNPs) and to determine whether SNPs at important cholesterol metabolism gene loci might exert effects on the risk to CHD in Chinese. METHODS: Genomic DNA samples were collected from 203 Chinese patients with CHD and 209 age- and gender-matched controls. The coding region, adjacent intronic sequences and promoter region (totally 5501 bp) of the CETP gene were screened based on a combination of polymerase chain reaction, denaturing high performance liquid chromatography and DNA sequencing. The association of individual single nucleotide polymorphisms with CHD was assessed by univariate, multivariate analysis and haplotype analysis. RESULTS: Fifteen SNPs were identified in the CETP gene including 12 novel ones, of which, 3 were in promoter region, 1 in exon 10, and other 9 in introns. The frequencies of -644C, +13054T, 296Q, and 442G alleles were considerably higher, while the frequency of +9907A allele lower, in CHD patients than those in controls (p=0.016, p=0.043, p=0.006, p=0.006, and p=0.029, respectively). The results of individual polymorphism analyses were confirmed by haplotype analysis for the combination of these 5 SNPs. The -644A/C, L296Q, and D442G polymorphisms were found to be associated with CHD in this Chinese population by multivariate analysis (p=0.009, p=0.024, and p=0.007, respectively). The adjusted odds ratio for the development of CHD for the -644C allele carriers was 1.63 compared with -644AA genotype (95% CI 1.05-2.78; p<0.01), 1.71 for the 296Q allele carriers relative to 296LL genotype (95% CI 1.10-2.89; p<0.05), and 1.31 for the 442G allele carriers relative to 442DD genotype (95% CI 1.02-2.56; p<0.01), respectively. CONCLUSIONS: There is a significant relation between the polymorphisms in the CETP gene and the development of CHD, and individuals homozygous or heterozygous for the -644C, 296Q, and 442G alleles of the CETP gene are at increased risk to develop CHD in this Chinese population.

Association between DNA variant sites in the apolipoprotein A5 gene and coronary heart disease in Chinese.

The recently discovered apolipoprotein A5 ( APOA5 ) gene has been shown to be important in determining plasma triglyceride levels, a major cardiovascular disease risk factor. We searched for possible associations of the APOA5 gene polymorphisms S19W and -1131T>C with coronary heart disease (CHD) in a Chinese population. A total of 483 Chinese CHD patients and 502 control non-CHD subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism for these 2 single nucleotide polymorphisms. We found that the minor allele 19W was observed only in CHD patients and not in controls, with allelic frequencies of 0.047 and 0.000, respectively ( P < .000001), and the minor allele -1131C was significantly higher in CHD patients than in controls (0.391 vs 0.299, P < .0001). These results suggest that both the S19W and -1131T>C variations in the APOA5 gene are associated with the CHD and appear to be 2 genetic risk factors for CHD susceptibility in Chinese. Moreover, we found that triglyceride levels were significantly higher in -1131C carriers than in -1131T subjects of the control group and that high-density-lipoprotein cholesterol was decreased in -1131C carriers among CHD patients.

Association between cholesteryl ester transfer protein gene polymorphisms and variations in lipid levels in patients with coronary heart disease.

BACKGROUND: The Taq/B, Msp/ and I405V polymorphisms of cholesteryl ester transfer protein (CETP), an important regulatory factor of lipid metabolism, have been attracted much more attention by the researchers. In this study, we investigated the associations between these 3 polymorphisms of CETP gene and variations in plasma lipid and lipoprotein levels in patients with coronary heart disease (CHD). METHODS: Genomic DNA was extracted from leukocytes of 203 CHD patients and 100 control subjects using the salting out method. Genotyping of the CETP gene was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. Statistical analysis was conducted using the SPSS 10.0 software package. RESULTS: The distribution of allele and genotype frequencies of the Taq/B, MspI, and I405V polymorphisms was similar in the CHD patient group and the control group. The B1B1 genotype of the Taq/B polymorphism was associated with significantly higher TC (P=0.039) and LDL-C (P=0.044) levels than the B2B2 genotype in CHD patients, and with significantly higher LDL-C (P=0.034) levels than the B2B2 genotype in controls. Homozygotes of the I405V polymorphism exhibited significantly higher HDL-C levels than VV homozygotes among control subjects (P=0.023). In male CHD patients with unambiguously assigned haplotypes, B2-M2-V/B2-M2-I patients demonstrated significantly higher HDL-C concentrations than B1-M2-V/B1-M2-I (P=0.023) and B1-M2-V/B1-M2-V patients (P=0.047). CONCLUSIONS: Genetic variations in the CETP gene may account for a significant proportion of the differences in plasma lipid and lipoprotein concentrations among the general population. The B1B1 genotype of the Taq/B polymorphism is probably a genetic risk factor for CHD in the study population.

[Association of APOA5 gene single nucleotide polymorphism with levels of lipids and coronary heart disease in Chinese].

OBJECTIVE: To investigate the single nucleotide polymorphism 4 (SNP4) of the apolipoprotein A5 (APOA5) gene possible association with coronary heart disease(CHD) and its distribution of in Chinese Han population. METHODS: APOA5 SNP4 genotyping was performed using polymerase chain reaction and Hae III restriction fragment length polymorphism analysis. RESULTS: APOA5 allelic frequencies of T, C were 0.435, 0.565 and 0.374, 0.626 in CHD group and control group, respectively. There is significant difference in allele and genotype frequencies between CHD group and control group (P<0.05). The levels of plasma high density lipoprotein in CHD patients with CC genotype were higher than those in CHD patients with other genotypes (P<0.01). The frequencies of T allele and C allele in Chinese was significantly different from those in Caucasians (0.374 vs 0.663, 0.626 vs 0.337, P<0.01). The C allele was much more common in Chinese population. CONCLUSION: The association is found between the Hae III polymorphism and CHD, There is a significant correlation between the CC genotype of the APOA5 and the levels of plasma high density lipoprotein-cholosteal in the CHD group.

Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease.

Coronary atherosclerotic heart disease (CAD) is a multifactorial disorder resulting from numerous gene-gene and gene-environment interactions. Lecithin:cholesterol acyltransferase (LCAT), a key enzyme in reverse cholesterol transport and the metabolism of high-density lipoprotein (HDL), is thought to be a candidate gene related to dyslipidemia and CAD. Variations in the LCAT gene were investigated in 190 CAD patients and 209 age- and gender-matched controls by denaturing high-performance liquid chromatography, and confirmed by sequencing and RFLP assay. In CAD patients, a novel single-nucleotide polymorphism (P143L) in exon 4 of the LCAT gene was discovered in nine males and two females (frequency of 5.79%), which was found in none of 209 controls. The genotype and allele distribution of P143L is significantly (P<0.04 ) higher in the low HDL-C subgroup than in the normal HDL-C subgroup in both male patients and all CAD patients. P143L was also found to be significantly (P<0.01) associated with the low HDL-C phenotype in both male patients and all CAD patients, with odds-ratios of 7.003 (95% CI 2.243-21.859) and 5.754 (95% CI 1.893-13.785), respectively. Thus, the P143L polymorphism may play a role in causing decreased HDL-C levels, leading to increased risk of dyslipidemia and CAD in Chinese.

A novel missense mutation (L296 Q) in cholesteryl ester transfer protein gene related to coronary heart disease.

Cholesteryl ester transfer protein (CETP) is a key participant in the reverse transport of cholesterol from the peripheral tissues to the liver. To understand further the role that CETP gene plays in the pathogenesis of coronary heart disease (CHD), the promoter region, all 16 exons and adjacent intronic regions of CETP gene were screened for single nucleotide polymorphisms (SNPs) in 203 CHD patients and 209 healthy volunteers by the combination of PCR, denaturing high performance liquid chromatography (DHPLC), molecular cloning, and DNA sequencing. A novel missense mutation in the CETP gene was identified. This mutation (L(296)Q) was caused by a T-to-A conversion at codon 296 of exon 10 which resulted in the replacing of the codon for leucine (CTG) with the codon for glutamine (CAG). Further studies found that there was a significant increase in the mutant allele frequency in the CHD patients compared with that in the controls (0.160 vs. 0.091,cgr;(2) = 9.014, P = 0.003), and the odds ratio to develop CHD was 1.83 for the (296)Q allele carriers vs. (296)LL homozygotes. Statistical analyses also demonstrated that the mutant (296)Q allele carrier patients displayed significantly higher total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) concentrations than noncarrier patients. All these results suggest that the Q(296) mutation in CETP gene was closely related to CHD, and the identification of new mutations in the CETP gene will afford the opportunity to investigate the relationship between CETP gene and CHD.

The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans.

Beta-site amyloid-precursor protein cleaving enzyme (BACE1) is a candidate risk factor for Alzheimer's disease (AD) because of involving in generating beta-amyloid peptide, which is thought to play a central role in the pathogenesis of the disease. A single nucleotide polymorphism 1239G/C in exon 5 of BACE1 gene and a weak association between this polymorphism and AD in Caucasian APOEepsilon4 allele carriers has been reported. To examine possible association of the polymorphism with sporadic AD, two Chinese Han cohorts including 257 patients and 242 age-matched controls in Guangzhou and 112 patients and 113 controls in Chengdu were genotyped using PCR-RFLP techniques. The frequency of the C allele in controls of both cohorts was 0.65, which was higher than that in Caucasian populations [0.39 by Nowotny et al. 2001: Neuroport 12:1799-1802; 0.44 by Nicolaou et al. 2001: Neurogenetics 3:203-206]. There was a significant excess of C allele among the patients in both cohorts (Guangzhou, 0.71 vs. 0.65, chi(2) = 5.20, P = 0.02; Chengdu, 0.74 vs. 0.65, chi(2) = 4.36, P = 0.04). The CC genotype was found to be associated with AD (Guangzhou cohort, OR = 1.56, 95% CI = 1.09-2.23; Chengdu cohort, OR = 1.74, 95% CI = 1.03-2.95; combined sample: OR = 1.61, 95% CI = 1.20-2.17). The association remained in non-APOE epsilon4 allele carriers when all subjects were divided on the basis of the APOEepsilon4 status. Our findings suggest that the 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic AD in Chinese Hans.

[Association of 7alpha-hydroxylase gene polymorphism with levels of plasma lipids].

To study the distribution of Eco31I restriction polymorphism in nucleotide -204 of 7alpha-hydroxylase gene(CYP7A1)in Sichuan Han population of China and association of the polymorphism with coronary heart disease(CHD),CYP7A1 genotyping was performed by using PCR-RFLP approach in 183 CHD patients and 101 control subjects. 7alpha-hydroxylase gene allele frequencies of C,A were 0.840 and 0.160 in CHD group and 0.822 and 0.178 in control group,respectively. There was no significant difference in frequencies of allele and genotypes in A-204C polymorphism between CHD group and control group (P>0.05). However, in CHD patients there was significant difference in total cholesterol (TC) levels among CC,CA and AA genotypes (P<0.05) ,and the levels of high density lipoprotein cholesterol (HDL-C) and low density lipoprotein cholesterol (LDL-C) in CHD patients with AA genotype were lower than those in CHD patients with CC and CA genotypes(P<0.05). In control group there was significant difference in TC levels between CC and CA genotypes (P<0.05) . The frequencies of C,A alleles at A-204C polymorphic site were significantly different from those reported in white people(P<0.05). The results indicating that no direct association was found between the A-204C polymorphism and CHD,but there was significant correlation between this polymorphism and the levels of TC ,and there was significant correlation in CHD patient group between this polymorphism and levels of HDL-C and LDL-C.

[Study on the association of lecithin cholesterol acyltransferase gene polymorphisms with the lipid metabolism in coronary atherosclerotic heart disease].

OBJECTIVE: To examine the distribution of 3 polymorphisms of lecithin cholesterol acyltransferase gene in Chinese population and the association of these polymorphisms with lipid metabolism in patients with atherosclerotic heart disease (CHD). METHODS: Genotypes and frequencies of 3 sites were examined by PCR-restriction fragment length polymorphism technique in 209 unrelated normal control individuals and 203 CHD patients. RESULTS: The observed allele frequencies conform well to Hardy-Weinberg equilibrium. The frequency of 608T allele was significantly higher in controls than that in patients (P=0.034). Compared with the CHD patients without 608T, the CHD patients with 608T exhibited a significant increase in plasma HDL-C concentration (P=0.015). 911T/C and 1188C/T polymorphisms were not found in either group. CONCLUSION: 608T polymorphism of LCAT gene was associated with higher plasma HDL-C level in CHD patients, while 911T/C and 1188C/T polymorphisms maybe very rare in Chinese population.