Complement factor H polymorphism in age-related macular degeneration

Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value <10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.     

Complement factor H polymorphism and age-related macular degeneration

Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single-nucleotide polymorphisms for association with AMD in two independent case-control populations. Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.     

A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world and has a strong genetic predisposition. A locus at human chromosome 10q26 affects the risk of AMD, but the precise gene(s) have not been identified. We genotyped 581 AMD cases and 309 normal controls in a Caucasian cohort in Utah. We demonstrate that a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. The HTRA1 gene encodes a secreted serine protease. Preliminary analysis of lymphocytes and retinal pigment epithelium from four AMD patients revealed that the risk allele was associated with elevated expression levels of HTRA1 mRNA and protein. We also found that drusen in the eyes of AMD patients were strongly immunolabeled with HTRA1 antibody. Together, these findings support a key role for HTRA1 in AMD susceptibility and identify a potential new pathway for AMD pathogenesis.     

HTRA1 promoter polymorphism in wet age-related macular degeneration

Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet (neovascular) or dry (nonneovascular). Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD. Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. A whole-genome association mapping strategy was applied to a Chinese population, yielding a P value of <10(-11). Individuals with the risk-associated genotype were estimated to have a likelihood of developing wet AMD 10 times that of individuals with the wild-type genotype.     

西药联合驻景丸加减方治疗年龄相关性黄斑变性的临床观察

目的 观察西药联合驻景丸加减方治疗年龄相关性黄斑变性的临床效果.方法 60例(86只眼)年龄相关性黄斑变性患者随机分为治疗组和对照组,两组均用维生素C、维生素E和施图伦滴眼液治疗,治疗组加用驻景丸加减方.比较两组视力恢复、疗效及满意度.结果 治疗组视力恢复、疗效及满意度均优于对照组(P＜0.05).结论 西药联合驻景丸加减治疗年龄相关性黄斑变性效果显著,可促进视力恢复.     

A common variant on chromosome 9p21 affects the risk of myocardial infarction

The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.     

ATP-driven exchange of histone H2AZ variant catalyzed by SWR1 chromatin remodeling complex

The conserved histone variant H2AZ has an important role in the regulation of gene expression and the establishment of a buffer to the spread of silent heterochromatin. How histone variants such as H2AZ are incorporated into nucleosomes has been obscure. We have found that Swr1, a Swi2/Snf2-related adenosine triphosphatase, is the catalytic core of a multisubunit, histone-variant exchanger that efficiently replaces conventional histone H2A with histone H2AZ in nucleosome arrays. Swr1 is required for the deposition of histone H2AZ at specific chromosome locations in vivo, and Swr1 and H2AZ commonly regulate a subset of yeast genes. These findings define a previously unknown role for the adenosine triphosphate-dependent chromatin remodeling machinery.     

广东省水稻白叶枯病菌致病性变异动态研究

监测剖析了1996-2000年广东省水稻白叶片枯病菌致病性变异动态。从全省42个县（市）采集病叶标样分离提纯168个菌株，在中国鉴别品种上测定，划分为Ⅰ、Ⅱ、Ⅲ、Ⅳ、Ⅴ个致病型。各菌型出现频率分别为18.45%、21.43%、12.50%、26.79%、20.83%。Ⅰ、Ⅱ、Ⅲ、Ⅳ型菌在全省各稻区均有分布，尤其Ⅳ型菌出现频率最高，分布面甚广，为广东的优势致病型；Ⅴ型菌主要在粤西地区出现，在广东仍属局部发生，但近年新区不断出现，有继续扩展之势。病原菌致病性分化品种抗性有关，致病力较弱的Ⅰ、Ⅱ、Ⅲ型菌主要从抗性较差的杂交稻品种中分离，抗Ⅳ型菌品种感染强致病菌系Ⅴ型菌。     

CHD1 motor protein is required for deposition of histone variant H3.3 into chromatin in vivo

The organization of chromatin affects all aspects of nuclear DNA metabolism in eukaryotes. H3.3 is an evolutionarily conserved histone variant and a key substrate for replication-independent chromatin assembly. Elimination of chromatin remodeling factor CHD1 in Drosophila embryos abolishes incorporation of H3.3 into the male pronucleus, renders the paternal genome unable to participate in zygotic mitoses, and leads to the development of haploid embryos. Furthermore, CHD1, but not ISWI, interacts with HIRA in cytoplasmic extracts. Our findings establish CHD1 as a major factor in replacement histone metabolism in the nucleus and reveal a critical role for CHD1 in the earliest developmental instances of genome-scale, replication-independent nucleosome assembly. Furthermore, our results point to the general requirement of adenosine triphosphate (ATP)-utilizing motor proteins for histone deposition in vivo.     

关于一维概率密度函数的补充性质

本文讨论一维概率密度函数在无穷远处存在极限的情况,作为概率密度函数性质的补充。     

CD-1小鼠海马H3K9三甲基化水平的年龄化改变 及其与认知功能改变的相关性研究

探讨年龄对CD-1小鼠海马组蛋白H3K9三甲基化(H3K9me3)含量的影响及其与空间学习记忆能力改变的相关性。结果发现,18月和12月龄鼠在放射状水迷宫中学习期和记忆期的潜伏期、错误数均高于6月龄鼠(P_s0.05);18月龄鼠学习期及记忆期的错误数还高于12月龄鼠(P_s0.05)。18月龄鼠海马DG和CA1区H3K9me3水平高于12月龄鼠(P_s0.05),12月龄鼠也高于6月龄鼠(P_s0.05)。DG和CA1区H3K9me3相对含量与学习期的潜伏期和错误数以及记忆期错误数呈正相关(P_s0.05),而CA3区H3K9me3相对含量与学习期和记忆期的错误数、潜伏期之间无明显相关性(P_s0.05)。以上结果提示,CD-1小鼠年龄相关空间学习记忆损害可能与海马组蛋白H3K9me3升高有关。     

戴胜(Upupa epops)的染色体组型研究

 本文报道了戴胜(Upupa epops)的染色体组型研究结果。其染色体二倍体数2n=128。这是迄今已研究过的鸟类染色体二倍体数目最多的一种。在常染色体中,1—10号为双臂染色体(中、近中或近端着丝粒染色体);11—63号全为端部着丝粒染色体。雄性性染色体ZZ是整个染色体组中最长的一对近端着丝粒染色体;雌性的W染色体也为近端着丝粒染色体,其长度仅次于第3号常染色体。本研究结果为鸟类细胞分类学和研究鸟类的核型进化提供了新的细胞遗传学资料。     

食用菌菌种退化的遗传学分析

食用菌菌种退化的本质是遗传变异。引起菌种退化的主要原因为突变、杂交、菌种不纯合等内因及不良的外界环境因子 ,只有对菌种退化的机制和原因进行探讨、分析、了解 ,才能从根本上防止菌种退化。     

Base composition of the RNA of a reovirus variant

A variant of reovirus 3, Dearing strain, isolated after repeated pdssage of the original Dearing virus in L cells, is similar to the parent virus in many ways. It is, however, less sensitive to specific antibodies and metabolic inhibitors, and is released from L cells to a lesser extent than the original virus. Calculated as moles per 100 moles of total base in RNA, the percentage of guanine is 20.2, adenine, 29.8, cytosine, 21.0, and uracil 29.1. These values closely approximate those reported previously for the parent virus.     

血尔宝补铁蛋白咀嚼片对大鼠胚胎致畸作用的研究

了解血尔宝补铁蛋白咀嚼片对SD大鼠胚胎的影响,将SD大鼠雌雄1:1交配,发现阴栓作为妊娠“零”天,检出的“孕鼠”随机分到阴性组、阳性组、高剂量组、中剂量组、低剂量组,并称重和编号。于妊娠第7～16d灌胃;受孕的0、7、12、16、20d称体重,并计算给受试物的量。孕鼠于妊娠20d处死,剖腹取子宫称重、取胎记录并检查胚胎、着床数、吸收胎、死胎和活胎数。活胎鼠记录胎仔体重、体长、尾长并检查胎鼠外观有无异常。半数活胎固定于鲍音氏液中固定两周后徒手切片作内脏检查,另半数活胎以茜素红作骨骼染色,并逐步检查骨骼。结果表示,20d孕鼠体重增长阳性组与阴性组、剂量组相比有显著差异(P<0.05);16d、20d孕鼠体重增长高剂量组与低剂量组相比有显著差异(P<0.05);各组相比着床总数无显著差异;活胎的仔数、吸收胎数、死胎数、平均仔重、体重、及尾长,阳性组与阴性组、剂量组相比有显著差异(P<0.05);阴性组、剂量组相比无显著差异(P>0.05);胚胎外形畸形率敌枯双阳性组为58.96%,与其它各组相比有显著差异(P<0.01)。阴性组和剂量组之间无显著差异(P>0.05)。表明血尔宝补铁蛋白咀嚼片对SD大鼠胚胎无致畸、毒性作用。     

皮质醇对黄颡鱼成鱼吞噬细胞和补体活性的影响

采用皮质醇混饲投喂的方法．模拟自然条件下的慢性应激,研究皮质醇对黄颡鱼咸鱼吞噬细胞呼吸暴发和血清补体旁路溶血活性（ACH50）的影响。研究结果与结论如下。皮质醇混饲投喂可使血清皮质醇浓度持续显著升高,各周对照组血清皮质醇含量均无显著性差异,证明采用皮质醇混饲投喂的方法可模拟自然慢性应激情况下的血清皮质醇浓度持续显著升高。从第2周开始头肾吞噬细胞的呼吸暴发功能显著下降（P〈0．05）,证明皮质醇对头肾吞噬细胞的杀菌能力产生显著抑制作用。10mg／kg剂量组,ACH50在投喂第2、第5、第6周显著低于对照组（P〈0．05）,100mg／kg剂量组,ACH50从第2周开始一直都极显著低于同期对照组（P〈0．01）,证明皮质醇显著抑制血清补体旁路溶血活性,且血清皮质醇浓度越高其抑制作用越强。