Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers

Severe noise exposure can induce heat shock proteins (Hsps), and exposure to moderate noise has been reported to confer protection against noise-induced damage to hearing. Whether there is any association of genetic variation in both constitutive and inducible hsp70 genes with noise-induced hearing loss (NIHL) is presently unknown. Using polymerase chain reaction-restriction fragment length polymorphism, we genotyped 3 polymorphisms (+190A/ B, +1267A/B, and +2437A/B) in the hsp70-1 (rs1043618), hsp70-2 (rs1061581), and hsp70-hom (rs2227956) genes, respectively, and investigated the associations of these polymorphisms with risk of developing NIHL in 194 automobile workers working in a similar noise environment as evaluated by audiological assessment. Multivariate logistic regression models were used to assess the associations with the risk genotypes, and Whap software was used to analyze their haplotypes. Our results showed that there was no statistically significant difference in the genotype and allele distributions of hsp70-1, hsp70-2, and hsp70-hom between the NIHL group and the normal group (P > 0.05) with and without adjustment for age, sex, smoking, history of explosive noise exposure, and cumulative noise exposure. However, haplotype analysis revealed that the Hap5 (ie, haplotype +190A/+1267B/+2437A) and Hap6 (ie, haplotype +190A/+1267B/+2437B) were significantly more frequent in the NIHL group than in the normal group (20/9, P = 0.022, and 7/0, P = 0.005, respectively). Compared with Hap1 (ie, +190A/+1267A/+2437A), Hap5 was associated with a nearly 3-fold increased risk of NIHL (adjusted odds ratio, 2.67; 95% confidence interval, 1.13-6.27). Seven of the NIHL patients had Hap6, but none of the controls had this haplotype. Our results suggest that some haplotypes of the hsp70 genes may be associated with a higher susceptibility to NIHL.     

Association of regulatory genes polymorphisms with aerobic and anaerobic performance of athletes

The aim of study was to investigate an allelic distribution of PPARA (G/C polymorphism), PPARG (Pro/Ala), PPARD (+294T/C) and PGCIA (Gly482Ser) genes in rowers (n=205) and controls (n=659), and to find correlation between genotypes and physiological parameters. Genotyping was performed by restriction fragment length polymorphism analysis. Physiological parameters were evaluated by PM 3 Rower Ergometer and MetaMax 3B Gas Analyzer. The frequencies ofPPARA G (90.1% vs. 83.6%) and PPARG Ala (23.1% vs. 16.2%) alleles in elite athletes, and of PPARD C (19.1% vs. 10.5%) and PGC1A Gly (75.4% vs. 66.5%) alleles in sub-elite athletes were significantly higher than in controls. Moreover, PPARA G (when oxygen pulse was measured) and PGC 1A Gly (when maximal aerobic power and anaerobic threshold (%) of VO2max were measured) alleles were associated with high values of aerobic performance. Thus, PPARA G, PPARG Ala, PPARD C and PGCIA Gly alleles can be considered as genetic markers associated with enhanced physical performance.     

Haplotype analysis of TLR4 gene and its effects on milk somatic cell score in Chinese commercial cattle

Bovine mastitis is a very complex and common disease of dairy cattle and a major source of economic losses to the dairy industry worldwide. In this study, the bovine TLR4 was taken as a candidate gene for mastitis resistance. This study aimed to analyze the associations of single nucleotide polymorphisms (SNP) or haplotype and somatic cell score (SCS) in 404 Chinese commercial dairy cattle including Chinese Holstein, Sanhe cattle and Chinese Simmental breeds. The polymerase chain reaction and sequencing methods were used for detecting genotype and allele frequency distribution of the two SNPs (rs8193062, rs8193064), statistical results showed that T allele at rs8193062 and C allele at rs8193064 were the predominate alleles. Moreover, six SNPs, including two SNPs (rs8193062, rs8193064) and four SNPs (rs8193060, rs8193069, rs29017188, rs8193046) which were chosen according the polymorphism level for the same cattle populations in previous studies, were used for haplotype analysis, the results revealed that twenty-one haplotypes were found in the mentioned animals, of which, Hap1 (30.5 %) and Hap2 (30.4 %) were the most common haplotypes. Hap2, Hap4 and Hap12 might negatively effect on milk SCS, whereas Hap13 might positively effect on milk SCS. The results in this study might assist in marker assisted selection and provided some reference to be implemented in breeding programs to improve the mastitis resistance of dairy cattle.     

不同年龄老年轻度认知功能障碍患者的中医体质分布及其影响因素分析

摘要 目的：分析不同年龄老年轻度认知功能障碍（MCI）患者的中医体质分布及发生MCI的影响因素。方法：将我院2018年12月至2020年12月期间收治的100例老年MCI患者作为观察组，同期选择100例认知功能正常的健康体检者作为对照组；统计两组受试者一般临床资料，观察组结合临床表现并参照中华中医药学会颁布实施的《中医体质分类与判定》相关标准对其中医体质进行判定和评估，采用多元logistics回归模型分析发生MCI的影响因素。结果：60~70岁和71~80岁MCI患者中医体质以气虚质为主，80岁以上MCI患者中医体质以阳虚质、气虚质和痰湿质为主；观察组和对照组的居住情况、家庭关系和中医体质存在明显差异（P<0.05）；多元logistics回归模型分析结果显示，居住情况、家庭关系和中医体质是发生MCI的影响因素（OR值=1.923、2.002、1.964，P<0.05）。结论：80岁或以下的老年MCI患者中医体质以气虚质为主，80岁以上老年MCI患者中医体质以阳虚质、气虚质和痰湿质为主，且患者居住情况、家庭关系和中医体质是影响MCI发生的因素。     

Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study

The human plasma kallikrein gene (KLKB1) encodes plasma kallikrein, a serine protease that catalyzes the release of kinins and other vasoactive peptides and may be involved in the pathogenesis of hypertension. In this study, we performed a haplotype-based study to assess the effect of common genetic variation in the KLKB1 gene on the risk of essential hypertension. Eight common single nucleotide polymorphisms (SNPs) were selected from the HapMap database and used to determine the pattern of linkage disequilibrium (LD) and haplotype structure within the KLKB1 gene. Four tag SNPs were then identified with over 85% power to predict both common haplotypes and remaining common SNPs, and genotyped in 1,317 cases with essential hypertension and 1,269 healthy controls. Single SNP analyses indicated that SNPs rs2304595 and rs4253325 were significantly associated with hypertension, adjusted for covariates. Compared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028). A strongly significant interaction with gene-drinking was also observed. Among drinkers, the adjusted OR for Hap1 relative to Hap2 was increased to 2.50 (95% CI, 2.40 to 2.61; P < 0.0001). This was the first study to perform association analysis of the KLKB1 gene with essential hypertension. Our findings suggested that common genetic variation in the KLKB1 gene might contribute to the risk of hypertension in the northern Han Chinese population. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. Conflict of interests: None.     

Variants of the human PPARG locus and the susceptibility to chronic periodontitis

Apart from its regulatory function in lipid and glucose metabolism, peroxisome proliferator-activated receptor (PPAR)γ has impact on the regulation of inflammation and bone metabolism. The aim of the study was to investigate the association of five polymorphisms (rs10865710, rs2067819, rs3892175, rs1801282, rs3856806) within the PPARG gene with chronic periodontitis. The study population comprised 402 periodontitis patients and 793 healthy individuals. Genotyping of the PPARG gene polymorphisms was performed by PCR and melting curve analysis. Comparison of frequency distribution of genotypes between individuals with periodontal disease and healthy controls for the polymorphism rs3856806 showed a P-value of 0.04 but failed to reach significance after correction for multiple testing (P??0.90). A 3-site analysis (rs2067819-rs1801282-rs3856860) revealed five haplotypes with a frequency of ≥1% among cases and controls. Following adjustment for age, gender and smoking, none of the haplotypes was significantly different between periodontitis and healthy controls after Bonferroni correction. This study could not show a significant association between PPARG gene variants and chronic periodontitis.     

基于SSU rDNA序列的网状车轮虫群体遗传结构及多样性研究

基于SSU rDNA序列对当前分布于我国的网状车轮虫(Trichodina reticulata Hirschman & Partsch, 1955)的群体遗传结构与多样性进行了研究。遗传结构研究结果表明: 20个样本共检测到9个单倍型, 含4个共享单倍型与5个特有单倍型, 其中鲫来源的Hap3是最大的共享单倍型; 草鱼来源的Hap8和小黄黝鱼来源的Hap9暂被视为湖北武汉和西藏地区各自特有的单倍型; 同时推测鲫来源的单倍型Hap1为祖先单倍型。结合ML系统发育树分析推测, 在多宿主的进化历程中, 鲫寄生的网状车轮虫可能是分化最早的群体, 且草鱼寄生的网状车轮虫在起源上来自于鲫。遗传多样性结果显示, 所有群体均呈现较高的单倍型多样性(H_d≥0.5)与较低的核苷酸多样性(P_i＜0.005), 且鲫来源的单倍型多样性显著高于草鱼来源, 但核苷酸多样性(P_i)明显低于后者。遗传分化(F_st)与基因流(N_m)研究结果表明, Group A(鲫来源)与Group B(草鱼来源)群体间相对独立且已经达到了极度分化程度, 群体内基因层面的交流较少。综合中性检验与核苷酸单倍型错配分析认为, Group A(鲫来源)未发生过种群扩张, Group B(草鱼来源)则存在过早期的种群扩张历史。     

Revealing the non-overlapping characteristics between original centers and genetic diversity of Purpureocillium lilacinum

Purpureocillium lilacinum is a free-living, multitrophic, cosmopolitan fungus. This study estimated the genetic diversity of P. lilacinum and its geographic distribution pattern based on a global ITS dataset. At the intercontinental levels, the highest genetic diversity was in Asia. Divergence time estimation indicated that Hap 5, Hap 9, Hap 31, and Hap 32 from the Hainan, Guangdong, Jiangxi, and Fujian regions of China in Asia were the earliest divergence haplotypes. The neutrality test indicated that P. lilacinum is undergoing population expansion. These results support that the southeastern coastal region of China is the original center of P. lilacinum, while the East Asian region adjacent to this origin is the center of the genetic diversity of P. lilacinum. The geographical distribution pattern of P. lilacinum showed that only one haplotype (Hap 1) was globally distributed and that most haplotypes were distributed in Asia, while the few remaining haplotypes were scattered on other continents. The results provide valuable information to elucidate the origin, genetic diversity, and evolution of fungi.     

IL7Rα Expression and Upregulation by IFNβ in Dendritic Cell Subsets Is Haplotype-Dependent

The IL7Rα gene is unequivocally associated with susceptibility to multiple sclerosis (MS). Haplotype 2 (Hap 2) confers protection from MS, and T cells and dendritic cells (DCs) of Hap 2 exhibit reduced splicing of exon 6, resulting in production of relatively less soluble receptor, and potentially more response to ligand. We have previously shown in CD4 T cells that IL7Rα haplotypes 1 and 2, but not 4, respond to interferon beta (IFNβ), the most commonly used immunomodulatory drug in MS, and that haplotype 4 (Hap 4) homozygotes have the highest risk of developing MS. We now show that IL7R expression increases in myeloid cells in response to IFNβ, but that the response is haplotype-dependent, with cells from homozygotes for Hap 4 again showing no response. This was shown using freshly derived monocytes, in vitro cultured immature and mature monocyte-derived dendritic cells, and by comparing homozygotes for the common haplotypes, and relative expression of alleles in heterozygotes (Hap 4 vs not Hap 4). As for T cells, in all myeloid cell subsets examined, Hap 2 homozygotes showed a trend for reduced splicing of exon 6 compared to the other haplotypes, significantly so in most conditions. These data are consistent with increased signaling being protective from MS, constitutively and in response to IFNβ. We also demonstrate significant regulation of immune response, chemokine activity and cytokine biosynthesis pathways by IL7Rα signaling in IFNβ -treated myeloid subsets. IFNβ-responsive genes are over-represented amongst genes associated with MS susceptibility. IL7Rα haplotype may contribute to MS susceptibility through reduced capacity for IL7Rα signalling in myeloid cells, especially in the presence of IFNβ, and is currently under investigation as a predictor of therapeutic response.     

Expression profiling-based clustering of healthy subjects recapitulates classifications defined by clinical observation in Chinese medicine

Differences between healthy subjects and associated disease risks are of substantial interest in clinical medicine. Based on clinical presentations, Traditional Chinese Medicine(TCM) classifies healthy people into nine constitutions: Balanced, Qi, Yang or Yin deficiency, Phlegm-dampness, Damp-heat, Blood stasis,Qi stagnation, and Inherited special constitutions. In particular, Yang and Yin deficiency constitutions exhibit cold and heat aversion, respectively. However, the intrinsic molecular characteristics of unbalanced phenotypes remain unclear. To determine whether gene expression-based clustering can recapitulate TCM-based classification, peripheral blood mononuclear cells(PBMCs) were collected from Chinese Han individuals with Yang/Yin deficiency(n ? 12 each) and Balanced(n ? 8) constitutions, and global gene expression profiles were determined using the Affymetrix HG-U133 A Plus 2.0 array. Notably,we found that gene expression-based classifications reflected distinct TCM-based subtypes. Consistent with the clinical observation that subjects with Yang deficiency tend toward obesity, series-clustering analysis detected several key lipid metabolic genes(diacylglycerol acyltransferase(DGAT2), acyl-Co A synthetase(ACSL1), and ATP-binding cassette subfamily A member 1(ABCA1)) to be down-and upregulated in Yin and Yang deficiency constitutions, respectively. Our findings suggest that Yin/Yang deficiency and Balanced constitutions are unique entities in their m RNA expression profiles. Moreover,the distinct physical and clinical characteristics of each unbalanced constitution can be explained, in part,by specific gene expression signatures.     

Nucleotide sequence variation in mitochondrial COI gene among 147 silkworm (Bombyx mori) strains from Japanese, Chinese, European and moltinism classes

We characterized the nucleotide sequences of PCR-amplified mitochondrial COI fragments of 147 silkworm (Bombyx mori) strains that have been maintained in the National Institute of Agrobiological Sciences. Coding sequences (714 bp) of the 147 COI fragments were classified into eight haplotypes based on nucleotide differences at eight segregating sites. No length variation was identified in this region. The 5'-noncoding region showed different features, wherein changes in the number of Ts in the T-stretch, together with two base substitutions, were observed. As a result, the 147 COI noncoding sequences were classified into six haplotypes. Combining the coding and noncoding regions, we identified 14 haplotypes. One of the 14 haplotypes, Hap1A was exclusively abundant in the Japanese native strain class, while this haplotype was less frequent in the other three native strain classes. This finding suggests that the Japanese strain class underwent significant genetic differentiation from the Chinese, European, and moltinism classes, when the each class is regarded as a population. Comparison of the nucleotide sequences to those of B. mandarina (which inhabits Japan) revealed changes that are significantly larger than those within either B. mori or B. mandarina. Furthermore, we detected no common haplotypes between them, which suggests the concept of suppressed gene flow between the two species.     

青岛近海路氏双髻鲨群体遗传学分析

研究采集了青岛近海23尾路氏双髻鲨(Sphyrna lewini), 通过线粒体DNA控制区片段对其遗传多样性进行分析。研究结果显示: 在23个个体的控制区序列上存在13个变异位点, 未检测到插入/缺失位点; 检测到7个单倍型, 其中3个为个体共享单倍型(Hap1、Hap3和Hap5), 4个为个体独有单倍型; 青岛近海路氏双髻鲨呈现中等水平的单倍型多样度和较低的核苷酸多样度; 与已报道的日照、霞浦群体间的遗传分化指数F_st值分别为–0.0571和–0.0328, 表明青岛群体与其他两个群体间不存在显著差异。以Sphyrna zygaena为外群构建NJ系统树显示本研究中7个单倍型共分成两支, 分别与来自太平洋、印度洋的单倍型类群聚类。中国近海的路氏双髻鲨作为一个具有较低遗传多样性的濒危物种, 其资源保护更应该引起足够的重视。     

陕西省异色瓢虫种群遗传结构及其多样性

异色瓢虫是一种重要的天敌昆虫,广泛应用于农业生物防治中.本研究以线粒体COII基因作为分子标记,对陕西省分布的异色瓢虫不同地理种群的遗传结构及遗传多样性进行分析,并探讨不同种群间的遗传分化程度及基因交流水平.结果表明: 在21个种群529头异色瓢虫供试样本的COII序列中,共检测到15种单倍型(Hap1～Hap15),其中Hap1和Hap2所占比例最高,分别占总群体的34.4%和37.6%.总群体单倍型多样性指数为0.732,各种群内单倍型多样性范围在0.652～0.786.种群间总基因流为10.13,总群体遗传分化指数为0.024,说明种群间整体遗传分化程度较低.陕西异色瓢虫种群在进化上呈现中性模型,群体大小保持相对稳定,种群间的遗传分化主要来自种群内部.基于Nei遗传距离构建的种群系统发育树,陕南区域种群与陕北和关中区域种群分化明显.种群间遗传分化与地理距离之间存在一定的相关性,并且区域种群的遗传结构与遗传多样性也表现出一定的地理分布模式,推测秦岭的阻隔及南北气候的差异,使陕北、关中与陕南种群间的基因交流存在阻力,导致南北种群间遗传结构和遗传多样性存在差异.     

Association of MMP-9 Haplotypes and TIMP-1 Polymorphism with Spontaneous Deep Intracerebral Hemorrhage in the Taiwan Population

BackgroundSpontaneous deep intracerebral hemorrhage (SDICH) is a devastating stroke subtype. The causes of SDICH are heterogeneous. Matrix metalloproteinase-9 (MMP-9, Gelantinase B) has been shown to relate to stroke and the development of aneurysm and may increase risks of intracerebral hemorrhage. MMP activities are modulated by their endogenous inhibitors, tissue inhibitors of metalloproteinases (TIMPs). We analyzed the genetic variants of MMP-9 and TIMP-1 and SDICH susceptibility.MethodsAssociations were tested by logistic regression or general linear models with adjusting for multiple covariables. Multiplicative terms between genes were applied to detect the interaction effects on SDICH. Permutation testing of 1,000 replicates was performed for empirical estimates.ResultsIn the group of ≥65 years old (y/o), we found associations of SDICH with rs3787268 (Odds ratio [OR] = 0.48, 95% confidence interval [CI] 0.27 to 0.86, P = 0.01) and haplotype1 (Hap1) (OR = 0.48, 95% CI 0.26 to 0.86, P = 0.014). For TIMP1 gene, rs4898 was associated with SDICH in the elder male group (OR = 0.35, 95% CI 0.15 to 0.81, P = 0.015). In contrast, in the younger male group, there were associations of SDICH with rs2250889 (OR = 0.48, 95% CI 0.27 to 0.84, P = 0.01) and Hap3 (OR = 0.61, 95% CI 0.38 to 0.97, P = 0.04). We found significant genetic interaction between TIMP-1 and MMP-9 in SDICH susceptibility among younger male subjects (P = 0.004). In subjects carrying rs4898 minor allele, carriers with Hap3 had lower SDICH risk than non-carriers (OR = 0.19, 95% CI 0.07 to 0.51, P = 0.001). In addition, this study showed that when young males were exposed to alcohol, Hap3 was a protective factor of SDICH (OR = 0.06, 95% CI 0.01 to 0.27, P = 0.0002). In contrast, when they were exposed to smoke, Hap2 carriers had increased risk of SDICH (OR = 2.45, 95% CI 1.05 to 5.73, P = 0.04).ConclusionsThis study showed modest to moderate effects of MMP-9 and TIMP-1 polymorphisms on SDICH risks with significant age differences. MMP-9 may interact with alcohol to play a role in the SDICH risk in young men.     

Genetic susceptibility to heroin addiction: a candidate gene association study

Heroin addiction is a chronic complex disease with a substantial genetic contribution. This study was designed to identify genetic variants that are associated with susceptibility to develop heroin addiction by analyzing 1350 variants in 130 candidate genes. All subjects had Caucasian ancestry. The sample consisted of 412 former severe heroin addicts in methadone treatment, and 184 healthy controls with no history of drug abuse. Nine variants, in six genes, showed the lowest nominal P values in the association tests (P < 0.01). These variants were in noncoding regions of the genes encoding the mu (OPRM1; rs510769 and rs3778151), kappa (OPRK1; rs6473797) and delta (OPRD1; rs2236861, rs2236857 and rs3766951) opioid receptors; the neuropeptide galanin (GAL; rs694066); the serotonin receptor subtype 3B (HTR3B; rs3758987) and the casein kinase 1 isoform epsilon (CSNK1E; rs1534891). Several haplotypes and multilocus genotype patterns showed nominally significant associations (e.g. OPRM1; P = 0.0006 and CSNK1E; P = 0.0007). Analysis of a combined effect of OPRM1 and OPRD1 showed that rs510769 and rs2236861 increase the risk of heroin addiction (P = 0.0005). None of these associations remained significant after adjustment for multiple testing. This study suggests the involvement of several genes and variants in heroin addiction, which is worthy of future study.     

赤水河半鳆的遗传多样性和种群历史动态分析

在赤水河的水潦、茅台、二合、太平、赤水市5个样点共采集了168尾半鰐Hemiculterella sauvagei, 通过线粒体DNA的细胞色素b (Cyt b)基因序列分析了半鰐种群遗传多样性和种群历史动态。获得序列长度为1137 bp, 其中包含42个变异位点, 13个单突变位点, 29个简约信息位点。168条序列共检测到38种单倍型, 单倍型多样性(H_d)和核苷酸多样性(P_i)分别为0.895±0.012和0.00487±0.00695。分子方差分析(Analysis of Molecular Variance, AMOVA)显示: 遗传变异主要来源于种群内部(80.95%)。F_st值统计表明, 赤水市种群与茅台、二合、水潦种群之间存在高度分化, 与太平镇种群之间存在中度分化, 其他种群之间无显著差异, 这表明分布在赤水市和其他4个地理种群的半鰐应作为不同的管理单元(MU)进行保护。Mega 6.0 软件计算5个种群之间的平均净遗传距离范围为0.004—0.006。中性检验结果为水潦、太平和赤水市的F_s值为负值, 表明这3个地理种群的半鰐曾发生过种群扩张。采用1% per Myr的突变速率推算出半鰐水潦种群扩张时间大约在0.43百万年前, 太平镇种群大约在0.40百万年前, 赤水市种群大约在0.37百万年前。     

Polymorphisms of CUL5 are associated with CD4+ T cell loss in HIV-1 infected individuals

Human apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3 (Apobec3) antiretroviral factors cause hypermutation of proviral DNA leading to degradation or replication-incompetent HIV-1. However, HIV-1 viral infectivity factor (Vif) suppresses Apobec3 activity through the Cullin 5-Elongin B-Elongin C E3 ubiquitin ligase complex. We examined the effect of genetic polymorphisms in the CUL5 gene (encoding Cullin 5 protein) on AIDS disease progression in five HIV-1 longitudinal cohorts. A total of 12 single nucleotide polymorphisms (SNPs) spanning 93 kb in the CUL5 locus were genotyped and their haplotypes inferred. A phylogenetic network analysis revealed that CUL5 haplotypes were grouped into two clusters of evolutionarily related haplotypes. Cox survival analysis and mixed effects models were used to assess time to AIDS outcomes and CD4(+) T cell trajectories, respectively. Relative to cluster I haplotypes, the collective cluster II haplotypes were associated with more rapid CD4(+) T cell loss (relative hazards [RH] = 1.47 and p = 0.009), in a dose-dependent fashion. This effect was mainly attributable to a single cluster II haplotype (Hap10) (RH = 2.49 and p = 0.00001), possibly due to differential nuclear protein-binding efficiencies of a Hap10-specifying SNP as indicated by a gel shift assay. Consistent effects were observed for CD4(+) T cell counts and HIV-1 viral load trajectories over time. The findings of both functional and genetic epidemiologic consequences of CUL5 polymorphism on CD4(+) T cell and HIV-1 levels point to a role for Cullin 5 in HIV-1 pathogenesis and suggest interference with the Vif-Cullin 5 pathway as a possible anti-HIV-1 therapeutic strategy.     

Dopamine receptors D1 and D2 are related to observed maternal behavior

The dopamine pathway and especially the dopamine receptors 1 and 2 (DRD1 and DRD2) are implicated in the regulation of mothering in rats. Evidence for this in humans is lacking. Here, we show that genetic variation in both DRD1 and DRD2 genes in a sample of 187 Caucasian mothers predicts variation in distinct maternal behaviors during a 30-min mother-infant interaction at 6 months postpartum. Two DRD1 single-nucleotide polymorphisms (SNPs rs265981 and rs686) significantly associated with maternal orienting away from the infant (P = 0.002 and P = 0.003, respectively), as did DRD1 haplotypes (P = 0.03). Two DRD2 SNPs (rs1799732 and rs6277) significantly associated with maternal infant-directed vocalizing (P = 0.001 and P = 0.04, respectively), as did DRD2 haplotypes (P = 0.01). We present evidence for heterosis in DRD1 where heterozygote mothers orient away from their infants significantly less than either homozygote group. Our findings provide important evidence that genetic variation in receptors critical for mothering in non-human species also affect human maternal behaviors. The findings also highlight the importance of exploring multiple dimensions of the complex human mothering phenotype.     

草鱼野生与选育群体线粒体DNA控制区D-loop遗传变异分析

为探究经过2个选育世代后选育群体遗传多样性和遗传结构的变化, 研究对4个野生群体(邗江、九江、石首和吴江)和2个选育世代(F1和F2)进行了线粒体DNA控制区(D-loop)序列的遗传变异分析。实验结果表明, 4个野生群体在单倍型数目(H)、单倍型多样性(H_d)、核苷酸多样性(π)、平均核苷酸差异数(K)水平上均高于2个选育世代, 在2个选育世代内表现为F1代群体的核苷酸多样性(π)和平均核苷酸差异数(K)大于F2代群体, 但单倍型多样性(H_d)小于F2代群体; 单倍型分析结果表明, 6个群体间无共享单倍型, 4个野生群体间共发现2种共享单倍型(Hap1和Hap3), 石首群体和2个选育世代共享1种单倍型(Hap15); 遗传分化指数(F_st)分析结果表明, 邗江、九江、吴江3个野生群体和2个选育世代间存在较大的遗传分化(F_st范围为0.41475—0.55128), 石首群体与F1代群体之间存在较小的遗传分化, 与F2代群体之间存在中等水平的遗传分化, 同时F1代群体与F2代群体之间存在较小的遗传分化; 基于6个群体276个个体构建的邻接(Neighbor-Joining, NJ)进化树和基于27种单倍型构建的单倍型网络图也得到了相似的结论, 即邗江、九江、吴江3个野生群体和2个选育世代间的亲缘关系较远, 石首群体和2个选育世代两两之间的亲缘关系较近。以上结果表明, 经过2个世代的选择育种, 选育群体的遗传结构已发生了变化, 并且随着选育的进行, 选育世代的遗传多样性下降的较为明显, 这警示着我们在今后的育种工作中应适当改变现有的选育方案, 并实时监测选育群体的遗传多样性, 以便为今后进一步的选育工作打下坚实的基础。     

基于叶绿体DNA变异的湖北梨属种质系统进化及遗传多样性分析

利用trnL intron、trnL-trnF、trnS-psbC和accD-psa I等4个叶绿体DNA片段对来自湖北省的88份梨属种质资源进行系统进化和遗传多样性分析。结果表明,4个cpDNA片段共检测到变异位点11个,其中单一突变位点6个,插入/缺失(Indel)位点5个。acc D-psa I多态性最高,其变异位点数、核苷酸多态性和单倍型多样性均为最高。供试梨种质的核苷酸多样性和单倍型多样性分别为0.00112和0.769;Tajima's D检验值在P0.10水平上均不显著,表明所检测的4个区域以及合并后的片段均遵循中性进化模型;4个序列合并共检测到叶绿体单倍型10个,其中兴山梨种质中检测到的单倍型最多,荆门其次;Hap2和Hap5是2个主要单倍型,分别占总样本数的31.82%和30.68%;中介邻接网络图显示东方梨和西洋梨独立进化,而较为原始的稀有单倍型Hap8和Hap9均位于荆门,暗示该地区可能为砂梨的起源中心或多样性中心之一。