论旋律中的族性基因和语言基质——兼论汉语声调的音乐潜能与新韵旧体诗的入乐吟唱方法

旋律在当代专业音乐创作中的弱化甚至缺失,已引发整体音乐文化生态发生深刻转变。历史研究表明,一个民族的音乐(尤其它的旋律)注定会以某种方式被其语言赋形,从而具有该民族特有的语言基质。在音乐创作中回避旋律,或是在旋律写作中脱离语言,相当于割裂了音乐与传统文化之间的一个强有力的关联维度,也断绝了音乐与民族特质之间的一个活生生的亲缘因素。本文援引历史学家、社会学家的观点,论述了旋律何以作为音乐民族特性中的一个"显性基因",并结合笔者自身的诗文吟唱实践,阐释了语言何以作为旋律创作的灵感源泉。文章呼吁当代作曲家重新思考旋律的意义并潜心挖掘汉语声调的音乐潜能,也召唤音乐学家对"诗乐关系"这一古老话题再作审思。

高等植物中的多酚氧化酶

介绍了多酚氧化酶在植物体内的分布、性质、分子结构、生理作用及分子生物学研究进展。

Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds

AIM： To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer （HNPCC） in suspected Chinese patients. METHODS： Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction （PCR） and denaturing high-performance liquid chromatography （DHPLC）. Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool （BLAST）, and tested in the corresponding family members by direct DNA sequencing. RESULTS： Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A→G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC （HNPCCS） kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A→G was identified in the HNP2 kindred＇s proband, which might be the nonsense mutation analyzed by BLAST. CONCLUSION： Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China.

LBP and CD14 polymorphisms correlate with increased colorectal carcinoma risk in Han Chinese

AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs223 2596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk ofCRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44, 95% CI 1.94-6.10, P = 0.000). CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.

Review of screening for pancreatic cancer in high risk individuals

Pancreatic cancer is difficult to diagnose at an early stage and is associated with a very poor survival.Ten percent of pancreatic cancers result from genetic susceptibility and/or familial aggregation.Individuals from families with multiple affected first-degree relatives and those with a known cancer-causing genetic mutation have been shown to be at much higher risk of developing pancreatic cancer.Recent efforts have focused on detecting disease at an earlier stage to improve survival in these high-risk groups.This article reviews high-risk groups,screening methods,and current screening programs and their results.

Familial aggregation in inflammatory bowel disease:Is it genes or environment?

Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system which triggers an exaggerated immune response and subsequent bowel tissue damage. IBD has been more frequently found in families, an observation that could be due to either genetic, environmental or both types of factors present in these families. In addition to expanding our knowledge on IBD pathogenesis, defining the specific contribution to familial IBD of each one of these factors might have also clinical usefulness. We review the available evidence on familial IBD pathogenesis.

Homoeologous cloning of ω-secalin gene family in a wheat 1BL/1RS translocation

Wheat 1BL/1RS translocations are widely planted in China as well as in most of the wheat producing area in the world for their good qualities of disease resistance and high yield. 1BL/1RS translocations are however poor in bread making, partially caused by a family of small monomeric proteins, ω-secalins, which are encoded by genes on 1RS. Based on published sequence of a rye ω-secalin gene we designed a pair of primers to cover the whole mature protein coding sequence. A major band could be amplified from 1BL/1RS translocations but not from euploid wheat. Using this primer set we conducted PCR amplification by using high fidelity Pfu polymerase on the genomic DNAs and cDNAs purified from a 1BL/1RS translocation Lankao 906. Sequencing analysis indicated that this gene family contains several mem- bers of 1150 bp, 1076 bp, 1075 bp, 1052 bp and 1004 bp genes, including two pseudogenes and three active genes. The gene transcripts were differentially expressed in developing seeds.

Roles of Long-chain Acyl Coenzyme A Synthetase in Absorption and Transport of Fatty Acid

Long-chain acyl coenzyme A synthetase(ACSL) is a member of the synthetase family encoded by a multigene family;it plays an important role in the absorption and transport of fatty acid.Here we review the roles of ACSL in the regulating absorption and transport of fatty acid,as well as the connection between ACSL and some metabolic diseases.

Mutation screening of mismatch repair gene Mlh3 in familial esophageal cancer

AIM： To shed light on the possible role of mismatch repair gene MIh3 in familial esophageal cancer （FEC）. METHODS： A total of 66 members from 10 families suggestive of a genetic predisposition to hereditary esophageal cancer were screened for germline mutations in MIh3 with denaturing high performance liquid chromatography （DHPLC）, a newly developed method of comparative sequencing based on heteroduplex detection. For all samples exhibiting abnormal DHPLC profiles, sequence changes were evaluated by cycle sequencing. For any mutation in family members, we conducted a segregation study to compare its prevalence in sporadic esophageal cancer patients and normal controls. RESULTS： Exons of MIh3 in all samples were successfully examined. Overall, 4 missense mutations and 3 polymorphisms were identified in 4 families. MIh3 missense mutations in families 9 and 10 might be pathogenic, but had a reduced penetrance. While in families 1 and 7, there was no sufficient evidence supporting the monogenic explanations of esophageal cancers in families. The mutations were found in 33% of high-risk families and 50% of low-risk families.CONCLUSION： MIh3 is a high risk gene with a reduced penetrance in some families. However, it acts as a low risk gene for esophageal cancer in most families. Mutations of MIh3 may work together with other genes in an accumulated manner and result in an increased risk of esophageal tumor. DHPLC is a robust and sensitive technique for screening gene mutations.

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis （PFIC） type 2 is caused by mutations in ABCB11, which encodes bile salt export pump （BSEP）. We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum y-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately. Novel mutations in ABCB11, a four-nucleotide deletion in exon 3, c.90_93delGAAA, and a single-nucleotide insertion in exon 5, c.249_250insT, were identified, with confirmation in her parents. These mutations were predicted to lead to synthesis of truncated forms of BSEP. Immunostaining and mutation analysis thus established the diagnosis of PFIC type

Analysis of TLR4 and TLR2 polymorphisms in inflammatory bowel disease in a Guangxi Zhuang population

AIM: To study the polymorphisms of toll-like receptor 4 (TLR4) gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp and susceptibility to inflammatory bowel disease (IBD) in the Zhuang population from Guangxi, China. METHODS: A case-control study was performed from February 2007 to October 2011 which included 146 Zhuang patients with IBD in the experimental group and 164 healthy Zhuang subjects who acted as the control group. All patients and healthy subjects were from the Guangxi Zhuang Autonomous Region of China. Genomic DNA was extracted from intestinal tissue by the phenol chloroform method. TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp were amplified by polymerase chain reaction (PCR), and then detected by PCR-restriction fragment length polymorphism (RFLP). RESULTS: The TLR4 gene Asp299Gly was digested using Nco Ⅰ restriction enzyme, and a single band of 249 bp was observed which showed that it was a wild type (AA). The TLR4 gene Thr399Ile was digested using Hinf Ⅰrestriction enzyme and only the wild type (CC) was detected. In addition, the TLR2 gene Arg-677Trp was digested using Aci Ⅰ restriction enzyme and only the wild type (CC) was detected. The TLR2 gene Arg753Gln was digested using Pst Ⅰ restriction enzyme. Only the wild type (GG) as a single band of 254 bp was observed during RFLP. Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. CONCLUSION: The TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp polymorphisms may not be associated with IBD in the Zhuang population from the Guangxi Zhuang Autonomous Region of China.

G-protein beta 3 subunit polymorphisms and essential hypertension： a case-control association study in northern Han Chinese

Objective To explore the association between the three polymorphisms [ C825T, C1429T and G（-350）A] of the gene encoding the G protein beta 3 subunit （GNB3） and hypertension by performing a case-control study in the northern Han Chinese population. Methods We recnaited 731 hypertensive patients and 673 control subjects （the calculated power value was 〉 0.8）. Genotyping was performed to identify C825T, C1429T and G（-350）A polymorphisms using the TaqMan assay. Comparisons of allelic and genotypic frequencies between cases and controls were made by using the chi-square test. Logistic regression analyses were performed to investigate the relationships between the three polymorphisms of GNB3 gene under different genetic models （additive, dominant and recessive models）. Results The genotype dis- tribution and allele frequencies of C825T, C1429T and G（-350）A polymorphisms did not differ significantly between hypertensive patients and control subjects, either when the full sample was assessed, or when the sample was stratified by gender. No significant association was observed between C825T, C 1429T and G（-350）A polymorphisms and the risk of essential hypertension in any genetic model. Linkage dis- equilibrium was only detected between C825T and C 1429T polymorphisms. Haplotype analyses observed that none of the three estimated haplotypes significantly increased the risk of hypertension. Conclusions Our study suggested that the GNB3 gene polymorphisms [C825T, C 1429T and G（-350）A] were not significantly associated with essential hypertension in northern Han Chinese population.

THE POLYMORPHISMS OF HLA-DR AND TNF B LOCI IN NORTHERN CHINESE HAN NATIONALITY AND SUSCEPTIBILITY TO SYSTEMIC LUPUS ERYTHEMATOSUS

With the aid of methods of polymerase chain reaction / sequence specific primers (PCR/SSP) and polymerase chain reaction-restriction fragment length polymorphism (PCR/RFLP), the allelic polymorphism of HLA-DR and TNFB loci and susceptibility to systemic lupus erythematosus (SLE) in northern Chinese Han nationality were studied. The genetic analysis of 51 patients with SLE and 106 healthy controls indicated that frequencies of DR2 and DR3 alleles were significantly increased in SLE patients(P< 0.05 and <0. 005, relative risks of 1.77 and 4.01 respectively), which represent candidate susceptible genes or useful marker for SLE. The frequency of DR5 was found to decrease in SLE patients compared with control population (P<0. 025,relative risk = 0. 38). It might be an antagonistic or protective allelle or a marker for such allele. Analysis of 51 patients with SLE and 80 healthy control also revealed that the frequency of TNFB' 2 allele was significantly increased(P<0. 05,RR= 1. 70). Therefore TNFB' 2 gene may also be a susceptibility gene or a marker gene for SLE in northern Chinese Han nationality. It was also investigated the association between HLA-DR,TNF B alleles and Patient plasmic SC5b-9 levels,auto-antibodies (anti-SSA,SSB,Sm,RNP,ds DNA and ANA) and SLE complications (SLE nephritis,SLE pneu-monitis and SLE encephalopathy) ,no relationship was found.

Temporal and Tissue-Specific Expression of Tomato 14-3-3 Gene Family in Response to Phosphorus Deficiency

Plants adapt to phosphorus （P） deficiency through a complex of biological processes and many genes are involved. Tomato （Solanum lycopersicum L. ＇Hezuo906＇） plants were selected to grown hydroponically to study the temporal and spatial gene expression patterns of the 14-3-3 gene family and their roles in response to P deficiency in tomato plants. Using real-time reverse-transcriptase polymerase chain reaction （RT-PCR）, we investigated the expression profiles in different tissues （root, stem and leaf） at short-term and long-term P-deficient stress phases. Results revealed that i） four members of 14-3-3 gene family （TFT1, TFT4, TFT6 and TFTT） were involved in the adaptation of tomato plants to P deficiency, ii） TFT7 responded quickly to P deficiency in the root, while TFT6 responded slowly to P deficiency in the leaf, iii） expression response of TFT4 to P-deficient stress was widely distributed in different tissues （root, stem and leaf） while TFT8 only displayed stem-specific expression, and iv） temporal and tissues-specific expression patterns to P deficiency suggested that isoform specificity existed in tomato 14-3-3 gene family. We propose that TFT7 （one member of e-like group in tomato 14-3-3 family） is the early responsive gene and may play a role in the adaptation of tomato plants to shortterm P deficiency, while TFT6 （one member of non-e group in tomato 14-3-3 family） is the later responsive gene and may play a role in the adaptation of tomato plants to long-term P deficiency.

Genetic polymorphism analyses of a novel panel of 19 X-STR loci in the Chinese Uygur ethnic minority

The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat （X-STR） loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 （94 males and 139 females） unrelated healthy individuals. We observed 238 alleles at the 19 X-STR loci, with the corresponding gene frequencies spanning the range from 0.0021 to 0.5644. After Bonferroni correction （P〉0.0026）, there were no signif- icant deviations from Hardy-Weinberg equilibrium. The cumulative power of discrimination in females and males, and the probability of exclusion of the 19 X-STR loci were 0.999 999 999 999 999 999 998 091,0.999 999 999 999 966, and 0.999 999 986 35, respectively. The cumulative mean exclusion chance was 0.999 999 992 849 in deficiency cases, 0.999 999 999 999 628 in normal trios, and 0.999 999 998 722 in duo cases. The high value of the forensic parameters mentioned above revealed that the novel panel of 19 loci had important values for forensic applications in the LJygur group.

Impact of LDB3 gene polymorphisms on clinical presentation and implantable cardioverter defibrillator(ICD) implantation in Chinese patients with idiopathic dilated cardiomyopathy

Objective:Mutations in LIM domain binding 3(LDB3)gene cause idiopathic dilated cardiomyopathy(IDCM),a structural heart disease with a complicated genetic background.However,the association of polymorphisms in the LDB3 gene with susceptibility to IDCM in Chinese populations remains unexplored as dose the impact on clinical presentation.Methods:We sequenced all exons and the adjacent part of introns of the LDB3 gene in 159 Chinese Han IDCM patients and 247 healthy controls.Then we detected the distribution of polymorphisms in the LDB3 gene in all participants and assessed their associations with risk of IDCM.Additionally,we conducted a stratified genotype–phenotype correlation analysis.Results:The A allele of rs4468255 was significantly associated with IDCM(P<0.01).The rs4468255,rs11812601,rs56165849,and rs3740346 were also associated with diastolic blood pressure(DBP)and left ventricular ejection fraction(LVEF)(P<0.05).Notably,a higher frequency of rs4468255 polymorphism was observed in implantable cardioverter defibrillator(ICD)recipients under a recessive model(P<0.01),whereas the significant association disappeared after adjusting for potential confounders.However,in the dominant model,notable correlations could only be observed after adjusting for multi parameters.Conclusions:The rs4468255 was significantly correlated with IDCM of Chinese Han population.A allele of rs4468255 is higher in IDCM patients with ICD implantation,suggesting the influence of genetic background in the generation of this response.In addition,rs11812601,rs56165849,and rs3740346 in LDB3 show association with brain natriuretic peptide,DBP,and LVEF levels in patients with IDCM but did not show any association with IDCM susceptibility.

The MNS16A polymorphism in the TERT gene in peri-centenarians from the Han Chinese population

MNS16A, a variable number of tandem repeats polymorphism in the TERT gene, has been suggested to regulate telomerase activity. As telomerase activity has been reported to be related to life-span, we hypothesized that this polymorphism might affect human longevity by controlling the length of the telomere. To test this hypothesis, we collected 446 unrelated pericentenarian individuals （age）90, mean 94.45±3.45 years） and 332 normal controls （age 22-53, mean 35.0±12.0 years） from Dujiangyan, Sichuan, China. We typed the MNS16A polymorphism in both groups, and compared the allele and genotype frequencies between the peri-centenarian and control groups using the chi-squared test. There was no significant difference between the peri-centenarian and control groups. Thus, the MNS16A polymorphism in TERT might not influence human life-span, at least in the Hart Chinese population studied here.

ASSOCIATION ANALYSIS OF POLYMORPHISMS IN SIX GENES WITHIN THE GH/IGF-1 AXIS IN PATIENTS WITH IDIOPATHIC SHORT STATURE IN THE CHINESE HAN POPULATION

Objective To investigate relationships of polymorphisms in six genes （ GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b） in the growth hormone （GH）/insulin-like growth factor-1 （IGF-1） axis with idiopathic short stature （ISS） in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms （tagSNPs） from the six genes were selected from the HapMap （haplotype map of the human genome ） Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population （ P 〈 O. 05 ）. For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites （ rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6） of 3 genes （ JAK2, 1GF-1R, and GHR） were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites： 4 sites in JAK2 gene （ rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4） and 1 site in GHR gene （ rsNo. 6）. The risk which affected ISS was found related to the JAK2 gene in 4 sites （ increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ） and to the GHR gene in 1 site （decrease in rsNo. 6）. They were four haplotypes in gene of IGF-1R as ＂TGC＂, ＂CGCT＂, ＂TA＂, and ＂ CA＂, one haplotype in IGFBP-3 as ＂TA＂, and one haplotype in JAK2 as ＂CTG＂, which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference （ P =0. 015）. Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population.