Correlation between haplotype of apolipoprotein B gene and natural longevity persons in Uygur Nationality

This paper investigated the correlation between polymorphisms and haplotypes in the apolipoprotein B (apoB) gene (SP-I/D, Xbal-RFLP, VNTR) and natural longevity persons among the Uygur people in Xinjiang. For this purpose, 191 healthy Uygur individuals aged above 90 from Hetian area of Xinjiang were recruited, and another 53 persons aged 65–70 from the same nationality, the same region and with the same gender ratio, served as the control group. Genotyping was performed by PCR-SSP, PCR-RFLP and PCR-sequencing methods. Logistic regression analyses revealed that the frequencies of X⁺X⁺ genotype, M and L alleles and the genetypes composed of M and L were significantly higher in the longevity group than in the control group. In haplotype analyses, we found that, in the long-lived people, the frequency of haplotypes composed of the X+ and M alleles was significantly higher whereas the frequency of haplotypes composed of the X-and S alleles was significantly lower (both P<0.05) I than those of their controls. These results indicated that the S allele, SS genotype and X+-S, D-S, D-X+-S haplotypes were the possible adverse factors, whereas the M, L alleles, X+X+, MM, ML, LL genotypes and I-X+-M, X+-M haplotypes were the possibe protective factors for the naturally long-lived Uygur people in China.     

新疆维、汉妇女宫颈脱落细胞中hTERC 基因表达

目的:研究hTERC基因在新疆维吾尔族和汉族妇女宫颈脱落细胞中的表达情况及差异性。方法:收集2012年9月至2014年3月在新疆维吾尔自治区人民医院妇科门诊就诊或行宫颈癌机会性筛查的新疆维吾尔族和汉族妇女病例1160例,选择其中HPV感染阳性或TCT阳性或两项同时阳性的465例纳入研究队列,通过F1SH技术检测宫颈脱落细胞中hTERC基因的表达情况。结果:新疆维吾尔族与汉族妇女hTERC基因扩增的总阳性率无显著差异(P=0.620);维吾尔族与汉族妇女正常或慢性炎症组、CIN1组、CIN2组、CIN3组和SCC组hTERC基因扩增的阳性率亦均无显著差异(P=0.918,0.912,0.821,0.922,1.000),hTERC基因的表达率不存在民族差异;维吾尔族与汉族妇女正常或慢性炎症组/CIN1组和CIN2+组基因拷贝数的分布均无显著差异(P=0.925,0.862),且其正常或慢性炎症组/CIN1组和CIN2+组TERC:CEP比例分布亦均无显著差异(P=0.986,P=0.979),hTERC基因的扩增类型不存在民族差异;维吾尔族和汉族妇女hTERC基因扩增阳性率的大小顺序均为:SCC组≈CIN 3组CIN 2组CIN 1组≈正常或慢性炎症组,随着宫颈病变恶性程度的增加,各组中hTERC基因的扩增阳性率有增加的趋势,hTERC基因的表达与宫颈病变的恶性程度呈正相关(相关系数=0.648和0.712,P0.001)。结论:新疆维吾尔族与汉族妇女hTERC基因的表达率不存在民族差异;维吾尔族与汉族妇女hTERC基因的扩增类型不存在民族差异;随着宫颈病变恶性程度的增加,维吾尔族和汉族妇女hTERC基因的扩增阳性率有增加的趋势,hTERC基因的表达与宫颈病变的恶性程度呈正相关。     

Human longevity and common variations in the LMNA gene: a meta-analysis

A mutation in the LMNA gene is responsible for the most dramatic form of premature aging, Hutchinson-Gilford progeria syndrome (HGPS). Several recent studies have suggested that protein products of this gene might have a role in normal physiological cellular senescence. To explore further LMNA's possible role in normal aging, we genotyped 16 SNPs over a span of 75.4 kb of the LMNA gene on a sample of long-lived individuals (LLI) (US Caucasians with age ≥ 95 years, N=873) and genetically matched younger controls (N=443). We tested all common nonredundant haplotypes (frequency ≥ 0.05) based on subgroups of these 16 SNPs for association with longevity. The most significant haplotype, based on four SNPs, remained significant after adjustment for multiple testing (OR=1.56, P=2.5 × 10(-5) , multiple-testing-adjusted P=0.0045). To attempt to replicate these results, we genotyped 3619 subjects from four independent samples of LLI and control subjects from (i) the New England Centenarian Study (NECS) (N=738), (ii) the Southern Italian Centenarian Study (SICS) (N=905), (iii) France (N=1103), and (iv) the Einstein Ashkenazi Longevity Study (N= 702). We replicated the association with the most significant haplotype from our initial analysis in the NECS sample (OR=1.60, P=0.0023), but not in the other three samples (P > 0.15). In a meta-analysis combining all five samples, the best haplotype remained significantly associated with longevity after adjustment for multiple testing in the initial and follow-up samples (OR=1.18, P=7.5 × 10(-4) , multiple-testing-adjusted P=0.037). These results suggest that LMNA variants may play a role in human lifespan.     

新疆克拉玛依市维吾尔族和汉族成年人体部体质特征

为探讨新疆克拉玛依市维吾尔族与汉族成年人体部体质特征。采用整群分层随机抽样原则,按照《国民体质测试指导站各指标的测试方法及判断标准》规定的方法,测量并获得新疆克拉玛依市维吾尔族、汉族20~59岁共4108个成年人的有效样本,并按Martin法对所测体部项目进行体质特征研究。新疆克拉玛依市维吾尔族:除肩型男性为中肩型、女性为窄肩型外,男女均为超中等身材、宽胸型、宽骨盆型、窄手型、矮胖型。新疆克拉玛依市汉族:除身材分型男性为高型、女性为超中等身材外,男女均为宽胸型、窄肩型、宽骨盆型、窄手型、中间胖瘦型。维吾尔族与汉族之间体质特征总体水平差异具有统计学意义(p<0.01),且差异主要存在于维吾尔族与汉族女性之间。克拉玛依市维吾尔族和汉族成年人体质特征均具有北方人群的体质特征。     

腹部脂肪组织APN基因DNA甲基化及mRNA表达与维吾尔族T2DM的相关性

为探讨APN基因启动子区DNA甲基化及mRNA表达与新疆维吾尔族T2DM发生、发展的相关性,文章选择新疆维吾尔族正常个体50例、肥胖个体48例、肥胖伴T2DM个体26例,收集腹部网膜脂肪组织,利用变性高效液相色谱技术检测APN基因启动子区DNA甲基化情况,应用Real-time PCR方法检测APN 基因mRNA表达情况。结果显示,APN基因启动子区DNA甲基化阳性率在正常对照(34%)、肥胖(47.9%)及T2DM组(65.4%)逐渐增加,差异具有统计学意义(P<0.05)。Real-time PCR结果显示,正常对照组APN mRNA相对拷贝数(0.7162)显著高于肥胖(0.4244)及T2DM组(0.4093),差异具有统计学意义(P<0.05)。非T2DM个体相关性分析提示,APN mRNA相对拷贝数与空腹血清葡萄糖(Fasting plasma glucose, FPG)、糖化血红蛋白(Glycosylated hemoglobin, HbA₁c)、甘油三酯(Triglyceride, TG)水平显著负相关(P<0.05)。APN基因启动子区DNA甲基化与其mRNA表达负相关,甲基化阳性组相对拷贝数(0.2700)显著低于阴性组(0.7870),差异具有统计学意义(P<0.01)。以上结果提示,APN基因启动子区DNA甲基化通过抑制其 mRNA表达导致糖脂代谢紊乱,可能参与了新疆维吾尔族肥胖及T2DM的发生、发展过程。     

Correlation between seed longevity and RNA integrity in the embryos of rice seeds

The mature embryos of rice seeds contain translatable mRNAs required for the initial phase of germination. To clarify the relationship between seed longevity and RNA integrity in embryos, germinability and stability of embryonic RNAs were analyzed using the seeds of japonica rice cultivars subjected to controlled deterioration treatment (CDT) or long periods of storage. Degradation of RNA from embryos of a japonica rice cultivar “Nipponbare” was induced by CDT before the decline of the germination rate and we observed a positive relationship between seed germinability and integrity of embryonic RNAs. Moreover, this relationship was confirmed in the experiments using aged seeds from the “Nipponbare”, “Sasanishiki” and “Koshihikari” rice cultivars. In addition, the RNA integrity number (RIN) values, calculated using electrophoresis data and Agilent Bioanalyzer software, had a positive correlation with germinability (R²=0.75). Therefore, the stability of embryonic RNAs required for germination is involved in maintaining seed longevity over time and RIN values can serve as a quantitative indicator to evaluate germinability in rice.     

Determination of contents of the microelements in the blood and the hair of the Han,Uygur and Kazak people

Atomic absorption spectrometry is used to determine the contents of microelements (such as Zn, Cu, Ca, Mg and Fe) in the all-blood and hair of the Han, Uygur, and Kazak people in normal health state. The results show that the above mentioned elements in the hair arranged successively as Ca>Zn>Mg>Fe>Cu and those in the all-blood of the Han people arranged as Fe>Mg>Ca>Zn>Cu; of the Uygur and Kazak people, as Fe>Mg>Ca>Zn>Cu. This paper reports that the content of the microelement Mg in the all-blood and hair of the Uygur and Kazak people is obviously higher than that of the Han people (P<0.05).     

湖北汉族人群载脂蛋白A5遗传多态性分析

采用聚合酶链反应-限制性片断长度多态性(polymerase chain reaction restriction-fragment length polymorphism, PCR-RFLP)对257例湖北健康汉族人群APOA5 -1131T>C及56C>G基因多态性进行鉴定。结果发现: 湖北汉族人群中ApoA5 -1131T>C存在TT、TC、CC基因型, 3种基因型的频率分别为50.9%、32.9%及16.2%; 56C>G位点存在CC、CG基因型, 257名研究对象中, G等位基因分布频率小于5%; 各基因型频率和等位基因频率在不同种族和地域间分布存在显著性差异。结论: 湖北汉族人群中ApoA5基因-1131T>C位点存在单核苷酸多态性(single nucleotide polymorphism, SNP), 56C>G在该人群中应视为一个突变位点而不是多态性位点     

Influence of vitamin D receptor haplotypes on blood lead concentrations in environmentally exposed children of Uygur and Han populations

Objective: To explore the association between polymorphism of vitamin D receptor (VDR) and lead poisoning in Uygur and Han children in China.

Methods: The BsmI, ApaI and TaqI restriction sites of VDR genotyping were determined by polymerase chain reaction–restriction fragment length polymorphism in 443 Uygur and 469 Han children from Xinjiang province. The correlation between the polymorphism of VDR haplotypes and blood lead levels was explored.

Results: The genotype frequencies of VDR had significant differences in Han and Uygur children (p <0.01). According to VDR–BsmI, ApaI and TaqI haplotype analysis in Han children, haplotypes Atb and AtB were considerably decreased in the lead poisoning group (p <0.05) while haplotype aTb and ATb were significantly increased in the lead poisoning group (p <0.01). However, such results were not found in Uygur children (p?<?0.05).

Conclusion: A significant difference was seen in the frequency distribution of the VDR genotype among the different races. Haplotypes Atb and AtB might be protective factors while haplotypes ATb and aTb might be risk factors in Han children.     

Allele polymorphism and haplotype diversity of HLA-A, -B and -DRB1 loci in sequence-based typing for Chinese Uyghur ethnic group

HLA haplotype analysis has important application value in human population genetics, anthropological research and HLA matching transplantation. Based on HLA-A, -B, -C, -DRB1 and -DQB1 genotyping data from 663 families including 663 leukemia patients and 991 related donors, the allele frequency (AF) and haplotype frequency (HF) of two-, three- and five-locus haplotype distribution patterns in the Chinese Han population were determined by family segregation. A total of 38 alleles at A locus, 75 alleles at B locus, 35 alleles at C locus, 53 alleles at DRB1 locus and 22 alleles at DQB1 locus were discovered in this population. The frequencies of these alleles were basically consistent with those of previous reports except for some tiny differences. The study found 11 A-C, 15 C-B, 4 B-DRB1 and 11 DRB1-DQB1 two-locus haplotypes with a frequency over 2%. The number of A-C-B and A-B-DRB1 three-locus haplotype with a frequency over 1% were 11 and 3 respectively. The most common HLA-A-C-B-DRB1-DQB1 haplotype (HF>1%) were A*3001-C*0602-B*1302-DR*0701-DQ*0202 (4.30%), A*0207-C*0102-B*4601-DR*0901-DQ*0303 (3.07%), A*3303-C*0302-B*5801-DR*0301-DQ*0201 (1.49%) and A*1101-C*0102-B*4601-DR*0901-DQ*0303 (1.01%). The results are helpful for finding matching donors for hematopoietic stem cell transplant patients and also contribute to transplant immunology, HLA-related diseases, research of human genetics and other fields.     

Wide‐scale comparative analysis of longevity genes and interventions

Hundreds of genes, when manipulated, affect the lifespan of model organisms (yeast, worm, fruit fly, and mouse) and thus can be defined as longevity‐associated genes (LAGs). A major challenge is to determine whether these LAGs are model‐specific or may play a universal role as longevity regulators across diverse taxa. A wide‐scale comparative analysis of the 1805 known LAGs across 205 species revealed that (i) LAG orthologs are substantially overrepresented, from bacteria to mammals, compared to the entire genomes or interactomes, and this was especially noted for essential LAGs; (ii) the effects on lifespan, when manipulating orthologous LAGs in different model organisms, were mostly concordant, despite a high evolutionary distance between them; (iii) LAGs that have orthologs across a high number of phyla were enriched in translational processes, energy metabolism, and DNA repair genes; (iv) LAGs that have no orthologs out of the taxa in which they were discovered were enriched in autophagy (Ascomycota/Fungi), G proteins (Nematodes), and neuroactive ligand–receptor interactions (Chordata). The results also suggest that antagonistic pleiotropy might be a conserved principle of aging and highlight the importance of overexpression studies in the search for longevity regulators.     

鸽黑素皮质素受体3、4(MC3R、MC4R)基因多态性与生长性状的相关分析

利用PCR-SSCP技术和DNA测序方法检测广东石岐肉鸽和哈尔滨地区灰色家鸽MC3R和MC4R基因部分编码区序列的单核苷酸多态性, 分析了MC3R基因T91G突变位点和MC4R基因A903G突变位点导致的基因型与两群体鸽生长和体组成性状的关系。结果表明, 这两个多态位点所导致的基因型对石岐肉鸽活重、屠体重、全净膛重均有显著影响(P<0.05); 另外, 利用这两个突变位点所产生的合并基因型在鸽群体中与生长和体组成性状作最小二乘分析, 结果表明, 两位点合并后的基因型对全净膛重影响显著(P<0.05)。多重比较结果表明, BBAA型全净膛重显著大于AABB型, BBAA型对于体重增长是有利基因型。     

Smad7和Ki-67在新疆维吾尔族宫颈鳞癌中的表达及相关性研究

目的:分析新疆维吾尔族妇女宫颈鳞癌组织中Smad7和Ki-67表达及相关性。方法:采用免疫组化SP法检测宫颈炎组织88例(汉族42例,维吾尔族46例)以及宫颈鳞癌组织120例(汉族50例,维吾尔族70例)中Smad7、Ki-67蛋白的表达。结果:Smad7、Ki-67蛋白在宫颈鳞癌中的阳性表达率(78.3%、76.7%)均分别显著高于宫颈炎组织(15.9%、23.9%),差异有统计学意义(P0.05);维吾尔族妇女宫颈鳞癌中Smad7的阳性表达率(87.1%)显著高于汉族(66%)(P0.05)。维吾尔族宫颈鳞癌患者中Smad7、Ki-67的阳性表达率呈显著正相关性(x2=1.93,r=0.138,P0.05)。结论:宫颈鳞癌组织中Smad7、Ki-67蛋白的阳性表达率显著高于宫颈炎组织,宫颈鳞癌中Smad7蛋白的表达存在民族差异,Smad7、Ki-67等多种蛋白的联合检测可能会间接提高新疆维吾尔族妇女宫颈鳞癌诊断的准确度和精确度。     

贵州侗族人群MICB等位基因多态性研究

目的:探讨贵州侗族健康人群MICB等位基因的分布特点。方法:收集100例健康无亲缘关系的贵州侗族人新鲜血液样本,采用世界卫生组织(WHO)推荐的标准盐析法从样本新鲜血液中提取基因组DNA,并用PCR-SSP、PCR-SBT两种方法对样本DNA进行MICB等位基因分型。结果:在贵州侗族人群中,检出7种MICB等位基因,其中MICB*005:02等位基因频率最高,其频率为58.50%,其次为MICB*002:01等位基因频率22.00%;而MICB*003及MICB*005:03等位基因频率最低,两者频率分别为1.50%。结论:贵州侗族人群MICB等位基因具有高度的多态性,该数据为研究MICB基因在同种异体器官移植和疾病易感性中的可能作用奠定了实验基础。     

蜜源食物对节肢动物天敌寿命、繁殖力和控害能力的影响

大多数节肢动物天敌除了寄生或捕食寄主或猎物外,也会取食蜜源食物,特别是包括植物花蜜、花外蜜和昆虫蜜露等富含糖分的食物。这些蜜源食物对于提高寄生性和捕食性天敌的飞行和寄主搜索能力、延长寿命、提高繁殖力和增强控害能力都能发挥重要作用。本文重点介绍了农田生态系统中3类常见的非猎物性蜜源食物即植物花蜜、花外蜜和昆虫蜜露。其中,花蜜和花外蜜能够显著延长天敌寿命,提高天敌繁殖力和控害能力;蜜露的作用虽次于花蜜和花外蜜,但仍能促进某些天敌的生态功能。还进一步综述了显花植物和蜜源食物投放在生物防治中的应用,并从筛选适宜的蜜源植物、蜜源食物中糖成分作用分析和天敌对蜜源食物的搜索和定位等方向开展对蜜源食物的研究利用进行了展望。     

Association study between kynurenine 3-monooxygenase gene and schizophrenia in the Japanese population

Several lines of evidence suggest that metabolic changes in the kynurenic acid (KYNA) pathway are related to the etiology of schizophrenia. The inhibitor of kynurenine 3-monooxygenase (KMO) is known to increase KYNA levels, and the KMO gene is located in the chromosome region associated with schizophrenia, 1q42-q44. Single-marker and haplotype analyses for 6-tag single nucleotide polymorphisms (SNPs) of KMO were performed (cases = 465, controls = 440). Significant association of rs2275163 with schizophrenia was observed by single-marker comparisons (P = 0.032) and haplotype analysis including this SNP (P = 0.0049). Significant association of rs2275163 and haplotype was not replicated using a second, independent set of samples (cases = 480, controls = 448) (P = 0.706 and P = 0.689, respectively). These results suggest that the KMO is unlikely to be related to the development of schizophrenia in Japanese.     

基于CRISPR/Cas系统的天然产物生物合成基因簇克隆和编辑技术

合成生物学和基因组测序技术的快速发展使挖掘和高效合成天然产物进入了一个全新的时代。由于多数原始菌株生长缓慢、难以培养及遗传改造困难等问题,导致天然产物生物合成基因簇的激活和高效表达受到严重制约。基于此,将原始菌株来源的基因簇转移到操作简便、遗传背景清晰的模式宿主中进行异源表达成为天然产物发现和产量提高的一种有效手段。其中,基因簇的克隆与编辑是实现天然产物异源表达的一个主要限速步骤。CRISPR/Cas技术的应用极大地提高了大型基因簇克隆和编辑的效率,有效促进了微生物来源新药的发现。本文针对基于CRISPR/Cas开发的基因簇克隆和编辑技术进行了系统梳理和全面总结,探讨相关技术在天然产物挖掘和高效合成中的应用及其重要意义。     

Genome‐wide association mapping and biochemical markers reveal that seed ageing and longevity are intricately affected by genetic background and developmental and environmental conditions in barley

Globally, over 7.4 million accessions of crop seeds are stored in gene banks, and conservation of genotypic variation is pivotal for breeding. We combined genetic and biochemical approaches to obtain a broad overview of factors that influence seed storability and ageing in barley (Hordeum vulgare). Seeds from a germplasm collection of 175 genotypes from four continents grown in field plots with different nutrient supply were subjected to two artificial ageing regimes. Genome‐wide association mapping revealed 107 marker trait associations, and hence, genotypic effects on seed ageing. Abiotic and biotic stresses were found to affect seed longevity. To address aspects of abiotic, including oxidative, stress, two major antioxidant groups were analysed. No correlation was found between seed deterioration and the lipid‐soluble tocochromanols, nor with oil, starch and protein contents. Conversely, the water‐soluble glutathione and related thiols were converted to disulphides, indicating a strong shift towards more oxidizing intracellular conditions, in seeds subjected to long‐term dry storage at two temperatures or to two artificial ageing treatments. The data suggest that intracellular pH and (bio)chemical processes leading to seed deterioration were influenced by the type of ageing or storage. Moreover, seed response to ageing or storage treatment appears to be significantly influenced by both maternal environment and genetic background.     

四川彝族和新疆维族HLA-B位点基因多态性分析

应用PCR-SSP(Polymerase Chain Reaction-Sequence Specific Primer) 方法对无亲缘关系的106位四川彝族样品和110位新疆维族样品进行HLA-B基因分型。在彝族样品中共检出20个等位基因,其中高频率的等位基因为B*40（0.2028）、B*15（0.1604）、B*51(0.1274),低频率的等位基因为B*47 (0.0189)、B*27(0.0142)、B*44(0.0142)、B*18(0.0094)和B*78(0.0047)。在维族样品中共检出27个等位基因,其中高频率的等位基因为B*35 (0.1136)和B*51（0.1136）,低频率的等位基因为B*41（0.0045）、B*56（0.0045）和B*78（0.0091）。经χ2检验,两个民族群体的基因型分布均符合Hardy-Weinberg平衡。经遗传分析,四川彝族群体HLA-B基因座杂合度(H)、个体识别率(DP)和非父排除率(EP)分别为0.8977、0.9661和0.8009;维族群体的H、DP和EP分别为0.9372、0.9857和0.8732。本研究获得了四川彝族和新疆维族HL A-B基因座基因频率数据,为临床器官移植配型、人类学、法医学及疾病关联性研究提供了重要的群体遗传学资料。     

Allele and haplotype frequencies of human leukocyte antigen-A, -B, -C,-DRB1, and -DQB1 in Chinese patients with hematological diseases

The human leukocyte antigen (HLA) system plays a central role in the immune response to pathogens, as well as in organ and allogenic hematopoietic stem cell transplantation (HSCT). Finding a five-locus (i.e., HLA-A, -B, -C, -DRB1, and -DQB1) matched unrelated donor for a patient awaiting HSCT is a major clinical challenge, due to the lack of HLA-identical sibling donors and the high polymorphism of HLA. To date, most studies providing HLA allele frequencies (AF) and haplotype frequencies (HF) in Chinese populations have focused on donors instead of the recipients and have provided data for three loci (HLA-A, -B, and -DR); however, data from five-locus HLA typing in a large sample of patients, especially those with hematological diseases, remains unavailable. Therefore, this study was designed to determine HLA AF and two-, three-, four- and five-locus HF in a large cohort of Chinese Han patients with hematological diseases. The AF and the HF were determined using high-resolution HLA typing data from 2,878 patients. The total number of HLA-A, -B, -C, -DRB1, and -DQB1 alleles was determined to be 48, 92, 49, 52, and 24, respectively. Hardy-Weinberg equilibrium (HWE) analyses indicated significant deviations from HWE for HLA-A, -C, -DRB1, and -DQB1 AF, but not for HLA-B locus. The three most common alleles at each locus were A*11:01, A*24:02, A*02:01; B*46:01, B*40:01, B*13:02; C*01:02, C*07:02, C*06:02; DRB1*09:01, DRB1*15:01, DRB1*07:01; DQB1*03:01, DQB1*03:03, and DQB1*06:01. Our data may help to determine whether the current bone marrow registry contains sufficient diversity to meet the demand.