抗结核药致肝损害机制研究进展

本文就抗结核药物致肝损害的发生、发展与人体免疫性和非免疫性遗传异质的关系进行了综述,为进一步深入系统地探索其发生机制提供参考。

Variation of Protein Content in Tartary Buckwheat Seeds

[Objective]The aim was to select tartary buckwheat materials with high protein content.[Method]Used 35 kinds of tartary buckwheat as experimental material,and the protein content of seeds had been determined.[Result]The protein content of 35 kinds of tartary buckwheat will change in the range of 23.65-193.28 mg/g with an average of 111.85 mg/g.There was difference among different origins of tartary buckwheat.The seeds from Hezhang in Guizhou and Sichuan had highest protein content,while the seeds from Nayong had lowest protein content.[Conclusion]The study had provided theoretical basis for the further study on the genetic and variation law of protein content in different tartary buckwheat resources.

Genetic variations of wood properties and growth characters of Ko-rean pines from different provenances

Totally 26 provenance stands of 17-year-old Korean pine were selected for investigating wood properties and growth characters in Mao抏rshan Experimental Forest Farm of Northeast Forestry University in 1999. The anatomical property indexes, including tracheid length, tracheid diameter and wall-indiameter ratio, and the physical property indexes, such as growth ring width, late wood percentage and growth ring density, were measured for wood properties. Growth character indexes, including tree height and diameter at breast height, were also measured. The analytical results showed that there exited obviously dif-ference in wood property indexes between different provenances, which is suggested that wood properties are controlled by their genetic differences. The growth character indexes of Korean pines presented significant difference and they might also be controlled by their genetic differences. Most parameters of wood properties mainly varied in the direction of longitude, but the parameters of growth characters varied in the direction of latitude.

幽门螺杆菌与胃病

H. pylori infection of the stomach is widespread among human populations including Iranians and is considered to play a major role in the pathogenesis of gastric diseases such as peptic ulcer, adenocarcinoma, and MALT lymphoma. The association between H. pylori virulence markers and disease has been studied in other populations around the world. The aim of this study was to investigate the distribution of H. pylori vacA and cagA genotypes and their association with clinical outcomes in Iran. H. pylori was cultured from gastric biopsy specimens obtained from 137 Iranian patients (58 with duodenal ulcer, 61 with nonulcer dyspeptic [NUD], and 18 with gastric adenocarcinoma). The vacA alleles and cagA genotypes were determined by PCR. The vacA sl allele was present in 107 of the 137 subjects (78%). Multiple strains (m1 and m2) were detected in H. pylori isolates from the patients. VacA s1 genotypes were more frequent in patients with peptic ulcer (46/58; 79%) than in NUD patients (47/61; 77%). CagA was present in 44%of the patients. NUD patients had a frequency of cagA positivity similar to that of the overall population (46%). CagA was present more frequently more than cagA-negative (20%vs. 8%, respectively) in patients with gastric carcinoma (20%) than cagA-negative in patients with gastric carcinoma (8%). This is the first comprehensive study to demonstrate the frequency of colonization with mixed strain, vacA s1, m1 and m2 as the dominant genotype in these Iranian patients, where a high rate of H. pylori infection exists and is similar to the region with a low rate of H. pylori infection. Therefore, host genetics, environmental factors, and the substantial genetic heterogeneity among different H. pylori strains may contribute to the different clinical outcomes.

Genetic and molecular changes in ovarian cancer

Epithelial ovarian cancer represents the most lethal gynecological malignancy in the developed world, and can be divided into five main histological subtypes: high grade serous, endometrioid, clear cell, mucinous and low grade serous. These subtypes represent distinct disease entities, both clinically and at the molecular level. Molecular analysis has revealed significant genetic heterogeneity in ovarian cancer, particularly within the high grade serous subtype. As such, this subtype has been the focus of much research effort to date, revealing molecular subgroups at both the genomic and transcriptomic level that have clinical implications.However, stratification of ovarian cancer patients based on the underlying biology of their disease remains in its infancy. Here, we summarize the molecular changes that characterize the five main ovarian cancer subtypes, highlight potential opportunities for targeted therapeutic intervention and outline priorities for future research.

Characterization of Synonymous Codon Usage Bias in the Pseudorabies Virus US1 Gene

In the present study, we examined the codon usage bias between pseudorabies virus （PRV） US1 gene and the USl-like genes of 20 reference alphaherpesviruses. Comparative analysis showed noticeable disparities of the synonymous codon usage bias in the 21 alphaherpesviruses, indicated by codon adaptation index, effective number of codons （ENc） and GC3s value. The codon usage pattern of PRV US1 gene was phylogenetically conserved and similar to that of the USl-like genes of the genus Varicellovirus of alphaherpesvirus, with a strong bias towards the codons with C and G at the third codon position. Cluster analysis of codon usage pattern of PRV US1 gene with its reference alphaherpesviruses demonstrated that the codon usage bias of USl-like genes of 21 alphaherpesviruses had a very close relation with their gene functions. ENc-plot revealed that the genetic heterogeneity in PRV US1 gene and the 20 reference alphaherpesviruses was constrained by G＋C content, as well as the gene length. In addition, comparison of codon preferences in the US1 gene of PRV with those ofE. coli, yeast and human revealed that there were 50 codons showing distinct usage differences between PRV and yeast, 49 between PRV and human, but 48 between PRV and E. coil Although there were slightly fewer differences in codon usages between E.coli and PRV, the difference is unlikely to be statistically significant, and experimental studies are necessary to establish the most suitable expression system for PRV US1. In conclusion, these results may improve our understanding of the evolution, pathogenesis and functional studies of PRV, as well as contributing to the area of herpesvirus research or even studies with other viruses.

Genetic Variation Assessed with Microsatellites in Mass Selection Lines of the Pacific Oyster (Crassostrea gigas) in China

Abstract Four successive mass selection lines of the Pacific oyster, Crassostrea gigas, selected for faster growth in breeding pro- grams in China were examined at ten polymorphic microsatellite loci to assess the level of allelic diversity and estimate the effective population size. These data were compared with those of their base population. The results showed that the genetic variation of the four generations were maintained at high levels with an average allelic richness of 18.8-20.6, and a mean expected heterozygosity of 0.902-0.921. They were not reduced compared with those of their base population. Estimated effective population sizes based on temporal variances in microsatellite frequencies were smaller to that of sex ratio-corrected broodstock count estimates. Using a rela- tively large number ofbroodstock and keeping an equal sex ratio in the broodstock each generation may have contributed to retaining the original genetic diversity and maintaining relatively large effective population size. The results obtained in this study showed that the genetic variation was not affected greatly by mass selection progress and high genetic variation still existed in the mass selection lines, suggesting that there is still potential for increasing the gains in future generations of C. gigas. The present study provided im- portant information for future genetic improvement by selective breeding, and for the design of suitable management guidelines for genetic breeding of C. gigas.

Epigenetics： heterochromatin meets RNAi

The term epigenetics refers to heritable changes not encoded by DNA. The organization of DNA into chromatin fibers affects gene expression in a heritable manner and is therefore one mechanism of epigenetic inheritance. Large parts of eukaryotic genomes consist of constitutively highly condensed heterochromatin, important for maintaining genome integrity but also for silencing of genes within. Small RNA, together with factors typically associated with RNA interference （RNAi） targets homologous DNA sequences and recruits factors that modify the chromatin, com- monly resulting in formation of heterochromatin and silencing of target genes. The scope of this review is to provide an overview of the roles of small RNA and the RNAi components, Dicer, Argonaute and RNA dependent polymerases in epigenetic inheritance via heterochromatin formation, exemplified with pathways from unicellular eukaryotes, plants and animals.

Assessing the Germplasm of Laminaria (Phaeophyceae) with Random Amplified PoLymorphic DNA (RAPD) Method

Eighteen gametophytes includingL. japonica, L. ochotensisandL. longissima, were verified with random amplified polymorphic DNA (RAPD) technique. Eighteen ten-base primers were chosen from 100 primers selected for final amplification test. Among the total of 205 bands amplified, 181 (88.3%) were polymorphic. The genetic distance among different strains ranged from 0.072 to 0.391. The dendrogram constructed by unweighted pair-group method with arithmetic (UPGMA) method showed that the female and male gametophytes of the same cell lines could be grouped in pairs respectively. It indicated that RAPD analysis could be used not only to distinguish different strains ofLaminaria, but also to distinguish male and female gametophyte within the same cell lines. There is ambiguous systematic relationship if judged merely by the present data. It seems that the use of RAPD marker is limited to elucidation of the phylogenetic relationship among the species ofLaminaria.

Geographic variation and genetic performance of Picea koraiensis in growth and wood characteristics

Eight provenances of 19-year-old Picea koraiensis Nakai from the provenancetrials of Maoershan (45°20′N, 127°30′E), Liang-shui (47°10′N, 128°53′E) and Jiagedaqi(50°24′N, 124°07′E) in Northeast China were investigated to analyze the genetic variation ingrowth characteristics (tree height and diameter) and wood characteristics (tracheid length,tracheid diameter, tracheid wall thickness, annual ring width as well as wood density). Greatvariation in height growth and breast height diameter growth was observed among the provenances, andalong with the increase of tree age, these provenances presented different geographic adaptability.The growth characteristics of Picea koraiensis stand at age of 10 in Maoershan and Liangshuiprovenance trials had a positive correlation with longitude, and with increase of tree age to 15 and19, the tree growth of the provenances displayed a significant positive correlation with latitudeas well as altitude. For wood characteristics, great variation was also found among the provenances.There exists a close relation between growth characteristics and wood properties of the provenance.The height and breast height diameter growth of the provenance had a positive correlation withtracheid diameter and annual ring width, and a negative correlation with tracheid wall thickness andwood density. Genetic performance of the provenance in all above characteristics was alsoinvestigated in order to provide more useful information for comprehensive selection of this speciesfor pulpwood and plywood production.

Variation on Wild Sunflower （Helianthus ruderalis L.） for Quantitative and Qualitative Parameters

Our expedition have identified location in the central part of Kosovo where were collected a samples （accessions） at coordinates; Sub-Locality SL-1 （N42°34′36″, E21°07′45″）, altitude 574 m, SL-2 （N42°34′29″, E 21°07′45″altitude 591 m and SL-3 （N42°34′30″, E21°07′46″） on altitude 565 m. The aim of present investigation was carried out to study genetic variability of quantitative and qualitative parameters. The populations from SL-2 were characterized of higher significance on seed oil （23.74%） and protein content （16.74%）. The estimation average value of seed protein and oil content was 15.52% and 23.48% respectively. The variability of plant height ranged from 182.33 cm to as much as 200.89 cm, while distinction＇s between them were ＋ 18.56 cm which was a significant higher at P〈0.05 probability level. The SL-3 showed the higher value of HWK （34.6 g）, head per plant （39.33） and head diameter （9.5 cm） but, was characterized significantly lowest on seed protein content （13.99%）. The all traits included in our investigations showed a higher genetic variability with majority of extreme values. The sunflower populations differed significantly in several parameters measured, they have a different genetic and morphological backgrounds. Results from wild sunflower form indicated notable differences in dispersion of important genes for different traits and showed the potential for using in future for breeding program.

Mutations in CCIN cause teratozoospermia and male infertility

Teratozoospermia is usually associated with defective spermiogenesis and is a disorder with considerable genetic heterogeneity. Although previous studies have identified several teratozoospermia-associated genes, the etiology remains unknown for a majority of affected men. Here, we identified a homozygous missense mutation and a compound heterozygous mutation of CCIN in patients suffering from teratozoospermia. CCIN encodes the cytoskeletal protein Calicin that is involved in the formation and maintenance of the highly regular organization of the calyx of mammalian spermatozoa, and has been proposed to play a role in sperm head structure remodeling during the process of spermiogenesis. Our morphological and ultrastructural analyses of the spermatozoa obtained from all three men harboring deleterious CCIN mutants reveal severe head malformation. Further immunofluorescence assays unveil markedly reduced levels of Calicin in spermatozoa. These patient phenotypes are successfully recapitulated in mouse models expressing the disease-associated variants, confirming the role of Calicin in male fertility.Notably, all mutant spermatozoa from mice and human patients fail to adhere to the zona mass, which likely is the major mechanistic reason for CCIN-mutant sperm-derived infertility. Finally, the use of intracytoplasmic sperm injections(ICSI) successfully makes mutated mice and two couples with CCIN variants have healthy offspring. Taken together, our findings identify the role of Calicin in sperm head shaping and male fertility, providing important guidance for genetic counseling and assisted reproduction treatments.

Absence of murine CFAP61 causes male infertility due to multiple morphological abnormalities of the flagella

Impaired flagellar development and impaired motility of sperm is a cause of infertility in males. Several genes, including those of the AKAP, CCDC, CFAP, and DNAH families, among others, are involved in the‘‘multiple morphological abnormalities of the flagella"(MMAF) phenotype;these are the most common causes of male infertility. The Cilia-and flagella-associated protein(CFAP) family includes six members reported to cause MMAF phenotypes: CFAP43, CFAP44, CFAP69, CFAP65, CFAP70, and CFAP251. Here, we found that cilia-and flagella-associated protein 61(Cfap61) is highly expressed specifically in murine testes and show that the Cfap61-knockout male mice demonstrate MMAF phenotype, including sperm with short, coiled, and irregular flagella. Deletion of Cfap61 resulted in severe morphological and behavior abnormalities in sperm, reduced total sperm counts, impaired sperm motility, and led to male infertility.Notably, absence of Cfap61 impaired sperm flagella ultrastructural abnormalities on account of numerous distortions in multiple flagellum components. Immunostaining experiments in wild-type mice and healthy adult humans indicated that Cfap61 is initially localized at the neck of sperm, where it potentially functions in flagellum formation, and is later localized to the midpiece of the sperm. Thus, our study provides compelling evidence that dysregulation of Cfap61 affects sperm flagellum development and induces male infertility in mice. Further investigations of the CFAP61 gene in humans alongside clinical evidence showing MMAF phenotype in humans should contribute to our understanding of developmental processes underlying sperm flagellum formation and the pathogenic mechanisms that cause male infertility.

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome

Bardet-Biedl syndrome(BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity,developmental delay, and renal defects. At least 21 candidate BBS-associated genes(BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants(c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants. We also found a missense variant(c.2029G>C, p.E677Q) in NPHP1 and a missense variant(c.2470C>T, p.R824C) in BBS9 in the proband only, which are variants of uncertain significance. The compound heterozygous variants were probably responsible for the BBS phenotype in this Chinese pedigree and the missense mutations in NPHP1 and BBS9 might contribute to the mutation load.

Research Advancement in Genetic Variation of Wood Properties

The genetic improvement of wood properties is one of the important measures of improving wood quality.To achieve that,forestry and wood scientists have done a great deal of research in expectation to produce more high-quality wood.The paper summarizes the researches on genetic variation and genetic correlation of wood properties and proposes the prospects to conduct the genetic improvement of wood properties.