在青岛汉族人群中INSIG1rs9769826单核苷酸多态性与血糖水平有关,与血脂水平无关（英文）

目的：探讨青岛汉族人群中INSIG1rs9769826单核苷酸多态性与血糖和血脂的关系。方法：随机选取217名年龄在35-86岁健康的青岛汉族居民作为受试者。应用聚合酶链式反应-限制片段长度多态性检测技术（PCR-RFLP）对INSIG1基因rs9769826多态性进行基因分型,用协方差分析的方法分析rs9769826多态性与血糖和血脂的关系。结果：INSIG1基因rs9769826位点AAAG GG基因型的频率分别为70.04%,36.73%和3.23%,INSIG1基因rs9769826多态性与空腹血糖水平之间差异有显著意义（P〈0.001）,与血脂水平差异无显著意义。结论：INSIGIrs9769826突变基因G与空腹血糖升高有关。     

LKB1基因多态性与2型糖尿病相关性研究

目的:探讨陕西汉族人群中LKB1基因位点rs741765(380CT)及rs6510599(459GA)单核苷酸多态性(SNPs)与2型糖尿病遗传易感性及相关临床代谢指标的关系。方法:采用等位基因特异性引物PCR(SASP-PCR)对2型糖尿病患者130例及健康对照组100例进行LKB1基因内含子6 rs741765(380CT)及内含子1 rs6510599(459GA)两个位点进行基因多态性筛查,并测序鉴定,分析其基因多态性位点与2型糖尿病临床代谢指标关系。结果:rs741765(380CT)基因突变情况:2型糖尿病患者TT基因型频率显著高于健康对照组(P=0.023);TT基因2型糖尿病组中糖化血红蛋白水平及低密度脂蛋白胆固醇水平在型中明显升高(P=0.030;P=0.002);健康对照组中,空腹血糖水平在TT基因型中明显升高(P=0.011)。rs6510599(459GA)基因突变情况:AA基因型频率在2型糖尿病组及健康对照组间无显著性差异(P0.05);该基因位点与临床指标亦无相关性(P0.05)。结论:陕西汉族人群中LKB1基因内含子6 rs741765(380CT)及内含子1 rs6510599(459GA)存在基因多态性。LKB1基因内含子6 rs741765(380CT)基因多态性与2型糖尿病的发病有相关性。LKB1基因内含子1 rs6510599(459GA)基因多态性与2型糖尿病的发病无相关性。     

VKORC1基因rs9923231及GGCX基因rs2592551位点多态性与新疆维吾尔族、汉族人群心源性脑栓塞的相关性研究

目的:探讨维生素K环氧化物还原酶复合体亚单位1(VKORC1)基因rs9923231及γ-谷氨酰羧化酶(GGCX)基因rs2592551位点多态性同新疆维吾尔族和汉族人群发生心源性脑栓塞的关系。方法:选取2017年1月至2018年10月曾就诊于新疆医科大学第六附属医院神经内科的维吾尔族和汉族散发性房颤致脑栓塞患者各50例做为病例组,同时选取非心源性脑卒中维吾尔族患者50名及汉族患者150名为对照组,从外周静脉血中提取基因组DNA,采用PCR-RFLP技术检测VKORC1基因rs9923231及GGCX基因rs2592551多态性位点在不同人群中的分布。结果:维吾尔族脑栓塞组及对照组VKORC1基因rs9923231多态性位点基因型频率分布差异有统计学意义(P0.05);汉族脑栓塞组及对照组VKORC1基因rs9923231多态性位点基因型频率的分布比较差异无统计学意义(P0.05)。GGCX基因rs2592551多态位点在汉族、维吾尔族脑栓塞组及对照组的分布差异均无统计学意义(P0.05)。结论:VKORC1基因rs9923231多态性可能与新疆维吾尔族人群心源性脑栓塞的发病有关,而与汉族人群无关;GGCX基因rs2592551多态性可能与维吾尔族及汉族人群心源性脑栓塞的发病均无关。     

SLC2A9rs1014290位点基因多态性与北方汉族地区男性痛风发病的相关性研究

目的:探讨可溶性载体2家族成员9基因(SLC2A9)rs1014290位点的单核苷酸多态性与北方汉族地区男性原发性痛风的发病的相关性。方法:选取404例原发性痛风男性患者和412名健康体检者,分别检测其血清尿酸、血脂、肾功等生化指标,同时提取外周血DNA,应用连接酶检测反应(LDR)法分析其SLC2A9基因rs1014290位点基因型和等位基因频率。结果:痛风组空腹血糖、尿酸(UA)、甘油三酯(TG)、胆固醇(TC)、收缩压、BMI、肌酐(Cr)水平均显著高于对照组,差异有统计学意义(P0.05)。痛风组SLC2A9基因rs1014290位点各基因型频率(CC:12.8%;CT:53.5%;TT:38.7%)与对照组(CC:16.2%;CT:50.9%;TT:32.9%)相比差异有统计学意义(X2=3.978,P=0.041);两组的等位基因频率相比差异无统计学意义(X2=0.314,P=0.496)。结论:SLC2A9基因rs1014290位点多态性可能与我国北方汉族男性原发性痛风的易感性相关,携带TT基因型的个体更易患痛风。     

PLA2G7基因rs1051931单核苷酸多态性与汉族急性心肌梗死患者血脂水平的相关性研究

目的探讨PLA2G7基因rs1051931位点单核苷酸多态性与急性心肌梗死(AMI)患者血脂水平的关系。方法收集2012年12月~2016年12月广西医科大学第一附属医院收治确诊AMI的汉族患者以及与其同期相匹配的健康汉族人群各200例的血样标本,对人口统计学资料(年龄、性别)、生活方式(吸烟、饮酒)以及相关病史(既往史、合并症)等进行流行病学调查,并进行体检身高、体重,检测血脂水平,同时采用PCR-RFLP法对PLA2G7基因rs1051931SNPs进行基因分型,分析AMI患者血脂水平与rs1051931SNPs的关系。结果 rs1051931SNPs与AMI患者总胆固醇(TC)和低密度脂蛋白(LDL)水平升高有关。结论 rs1051931SNPs携带A等位基因与AMI患者TC和LDL水平升高存在正相关。     

脂联素基因SNP45 T/G多态性与2型糖尿病相关性研究

目的:探讨脂联素基因(APM1)SNP45 T/G多态性与湖北汉族人群2型糖尿病的相关性.方法:采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法分析了479例样本的APM1基因SNP45T/G多态性,并测定身高、体重、腰围、臀围、血压和空腹血糖等生理指标.结果:两种实验设计中对照组与病例组基因型和等位基因频率差异均无统计学意义.结论:脂联素基因SNP45T/G多态性在湖北汉族人群2型糖尿病的发生发展中可能不起主要作用.     

COL1A1及IGF-1基因与中国北方汉族人群高度近视相关性研究

目的:探讨I型胶原α1链(collagen I alpha-1,COL1A1)基因和类胰岛素生长因子-1 (insulin-like growth factors-1, IGF-1)基因与中国北方汉族人群高度近视的相关性。方法:收集2011年10月~2017年1月经我院眼科视光学中心诊疗的高度近视眼患者286例(病例组)及正常对照者201例(对照组),病例组按照眼球中轴长度分为A组(眼轴长度≥27 mm)126例和B组(眼轴长度27 mm)160例。用血液基因组DNA提取试剂盒提取受试者外周静脉抗凝血中的基因组DNA,采用多重PCR反应和基因测序得到目标片段COL1A1基因的多态位点rs2075555、rs2075554、rs2269336、rs1107946、rs1007086,IGF-1基因的多态位点rs12423791、rs10860860、rs2946834、rs6214的碱基序列,用卡方检验和Logistic回归分析的方法分析病例组和对照组之间各基因分布的差异。结果:病例组和正常对照组COL1A1基因的单核苷酸多态性位点的基因型频率和等位基因频率均无显著性差异(P0.05)。病例组和正常对照组IGF-1基因的rs12423791位点的基因型频率和等位基因频率有统计学差异(P=0.016),其他3个位点的单核苷酸多态性位点均无显著性差异(P0.05)。病例A组和对照组及A组和B组之间COL1A1基因的5个单核苷酸多态性位点分布均无显著性差异(P0.05),IGF-1基因的rs12423791位点有统计学差异(P=0.033)。结论:胶原类基因COL1A1的多态性与中国北方汉族人群高度近视的发生无显著相关性,IGF-1基因的rs12423791位点的多态性与中国北方汉族人群高度近视的发生有显著相关性。     

rs2200733多态性与中国汉族中青年高血压患者并发心房颤动的关联性

目的:探讨人基因组rs2200733位点的多态性与中国汉族中青年高血压患者并发房颤发生的关联性.方法:根据入选标准,选择中国汉族中青年高血压并发房颤患者208例(房颤组)和不伴房颤的高血压患者405例(对照组).采集患者外周血,提取基因组DNA,采用聚合酶链反应-限制性酶切片段长度多态性技术检测rs2200733位点的基因型和等位基因分布.结果:rs2200733位点存在多态性,分别为TT、TC和CC型,其基因型频率在房颤组和对照组分别为58.1％、33.7％、8.2％和72.9％、25.9％、1.2％.基因型分布有显著性差异(P＜0.001),房颤组TC和CC基因型频率明显高于对照组(P＜0.001).Logistic多因素回归分析显示rs2200733位点多态性与房颤显著相关(OR=3.143,95％CI:1.442-6.581).结论:rs2200733位点多态性与中国汉族中青年高血压患者的房颤发生存在相关性,TC和CC基因型可能是房颤发生的一个遗传易感因素.     

共济失调蛋白2结合蛋白1基因多态性与奥氮平所致体重增加的关联研究

目的:既往研究表明,共济失调蛋白2结合蛋白1(A2BP1)基因多态性可能与精神分裂症、孤独症及肥胖等复杂疾病关联,但目前尚无相关文献提示A2BP1基因多态性与抗精神病药所致体重增加的关联.本研究拟探讨A2BP1基因多态性与奥氮平治疗精神分裂症所致体重增加的关联.方法:本研究共入组350例精神分裂症患者,其中完成奥氮平(治疗剂量5～20 mg/d)治疗8周者为328例.采用阳性与阴性症状量表(PANSS)减分率评估药物疗效;分别于治疗前和治疗8周后测量并记录患者的清晨空腹体重并计算治疗前后体重增加率(％).提取患者外周血DNA,采用DNA测序基因分析方法,在328例汉族精神分裂症患者中,检测A2BP1基因4个单核苷酸多态性(SNP)位点(rs8048076,rs1478697,rs10500331,rs4786847)的基因型,并采用数量性状位点分析方法(QTL)探索A2BP1基因多态性与奥氮平治疗所致体重增加率的关联.结果:A2BP1基因rs8048076 (T=3.237;P=0.0012)及rs1478697 (T=2.956;P=0.0032)位点与奥氮平治疗精神分裂症8周后所致体重增加率关联(P＜0.05),经多重检验Bonferroni校正后仍有统计学意义;而rs10500331 (T=-0.293;P=0.769)与rs4786847(T=0.666; P=-0.505)在本样本中与奥氮平所致体重增加的关联无统计学意义(P＞0.05).结论:本研究结果提示在中国汉族人群中,A2BP1基因多态性可能与奥氮平治疗精神分裂症患者所致体重增加副反应关联,如能进一步验证及机制探索,则有望在精神科个体化治疗方面对药物所致体重增加的预测与防治提供线索依据.     

中国汉族人群DNA酶Ⅰ基因多态性与不稳定性心绞痛的关系

目的:探讨脱氧核糖核酸酶Ⅰ(DNA酶Ⅰ)基因多态性与汉族人群不稳定性心绞痛(unstable angina pectoris,UAP)易感性的关系.方法:以196例UAP患者为病例组,排除冠心痛的297例体检者为对照组,应用PCR及PCR-限制性片段长度多态(PCR-RFLP)分析DNA酶Ⅰ基因8外显子单核苷酸多态位点A2317G及4内含子56bp可变串联重复序列(HumDN1)多态性;协方差分析A2317G、HumDN1各基因型与UAP患者血脂的关系,将年龄、性别、高血压、糖尿病及吸烟作为协变量;x2检验分析UAP患者冠脉血管病变支数与DNA酶Ⅰ基因型的关系.结果:UAP组与对照组A2317G、HumDN1各基因型及等位基因分布无明显统计学差异(P＞0.05),两组DNA酶Ⅰ单体型分布亦无差异.UAP患者DNA酶Ⅰ各基因型血脂水平、冠脉血管病变支教的差异无明显统计学意义,所有P值均＞0.05.结论:DNA酶Ⅰ基因多态性与中国汉族人群不稳定心绞痛及其血脂水平无明显相关性.     

Experimenting with Transmutation: Darwin, the Beagle, and Evolution

Detailed analysis of Darwin’s scientific notes and other writings from the Beagle voyage reveals a focus on endemism and replacement of allied taxa in time and in space that began early in the journey. Though it is impossible to determine exactly when Darwin became a transmutationist, the evidence suggests that he was conversant with the transmutational ideas of Lamarck and others and testing (“experimenting” with) them—before he received a copy of Lyell’s Principles of Geology, vol. 2, in November 1832, in which Lyell describes and disputes Lamarck’s theory. To the two rhea species of Patagonia and the four mockingbird species of the Galapagos, we can now add the living Patagonian cavy (rodent) species, and its extinct putatively related species that Darwin collected at Monte Hermoso (Bahia Blanca) in the Fall of 1832, as a replacement pattern absolutely critical to the development of Darwin’s transmutational thinking. Darwin developed his first transmutational theory by adopting “Brocchi’s analogy” (Rudwick 2008)—i.e. that births and deaths of species are analogous to the births and deaths of individuals. Births and deaths of species, as of individuals, are thus explicable in terms of natural causes. Darwin explored these themes and the replacement of the extinct cavy by the modern species explicitly in his February 1835 essay (Darwin 1835a).

A Floristic Study on the Seed Plants of the Cangshan Mountain Range,Dali, Yunnan,China

The floristic characteristic, position in Chinese floristic division, and the origin and development of the flora of the Cangshan Mountain Range (the Dali Range) were discussed from different aspects, based on the local seed plants of 2503 species, 45 subspecies, 194 varieties, belong to 852 genera in 164 families. Preliminary conclusions are as follows: The Cangshan Mountain Range belongs to three river gorges subregion, Hengduan mountain region, Sino Himalayan forest subkingdom, East Asiatic Kingdom, in Chinese floristic division. The floristic characteristic of seed plants of the Cangshan Mountain Range is temperate. Because of the geological events of the collision between Eurasian Plate and Indic Plate, the Tethys fading away, and the uplift of Himalayas, the elements from Gondwana land, Mediterranean and Arctic Tertiary gradually developed into its modern flora. The endemism within the flora is rich, with the neoendemic elements dominant. It shows that the Cangshan Mountain Range is not only a refuge for some ancient floristic elements but also a differentiation center for young floristic elements. It is an important floristic spot connecting floristic elements from different directions. And the distribution limits of a great deal of elements also are here.     

可控多孔生物陶瓷的制备技术中浆料性能及其影响因素的研究

浆料的性能是可控多孔生物陶瓷技术的重要影响因素。本文对浆料性能的几个主要影响因素进行了专门研究和探讨,同时对浆料稳定性、流动性和可逆性进行了研究,从而获得浆料性能的几个主要影响因素的具体情况,得到了浆料制备的最佳工艺参数。     

Some aquatic oligochaetes of the Nilgiris,South India

Eight species of aquatic oligochaetes, belonging to the families Naididae and Tubificidae, are reported, of which six species are new to the Nigiris. Tubifex tubifex known from Coonoor is reported again from this area.     

Population census of the chimpanzees in the Kalinzu Forest,Uganda: Comparison between methods with nest counts

The population of chimpanzees in the Kalinzu Forest, Uganda was censused with nest counts using the line-transect method. Four methods were examined to estimate density. The estimated densities, ranging from 2.0 to 4.7 chimpanzees per km², all indicated a high population density, in comparison with other chimpanzee habitats. Moreover, the density in the logged area of the Kalinzu Forest was higher than that in the unlogged area. Several factors are thought to contribute to the high density in the Kalinzu Forest. Notable are the mosaic forest structure dominated by mature forest with patches of logged areas, selective logging of non-food tree species of chimpanzees, and low hunting pressure. These results suggest that selective logging may be a practical means of primate conservation in places where timbers are exploited.     

A Comparative Floristic Study on the Seed Plants of the East Side and the West Side of the Northern Gaoligong Mts . in Northwestern Yunnan,China

The differences in rainfall and temperature between the east and west sides of the northern GaoligongMts. leads to distinct differences in the plant diversity and floristic characteristics between the two sides . Recorded taxa on the east side include 1 475 native species and 192 varieties (or subspecies) belonging to 580 genera in 152 families and for the west side include 1 804 native species and 186 varieties ( or subspecies) belonging to 659 genera in 162 families . Based on the statistics and analysis of families, genera, and species, a comparative floristic study on the seed plants for the east side and the west side of the northern Gaoligong Mts. was carried out. The results are as follows: 1) The present flora on the east and west sides of the northern Gaoligong Mts . have the same floristic origins, but the relative contribution from these different sources has changed through time . The result is that the floristic similarity of families, genera, and species between the east side and the west side has decreased through time; 2) The floristic characteristic of seed plants for the west side has become more greatly influenced by tropical floristic elements than has that of the east side, and the influence by the temperate floristic elements has become less influenced on the west side but greater on the east side; 3) The flora of the west side is more closely linked with that of the eastern Himalayans than is the flora of the east side, and the flora of the east side is more closely linked with the other floras farther to the east. Owing to the obstruct of the Gaoligong Mts. ridge itself, it is seemingly difficult for the species interchange between the two sides of the northern Gaoligong Mts. ; 4) The ecological-geographical environment has made it more conducive to species conservation and the speciation on the west side than on the east side, so the west side is not only a refuge for some ancient floristic elements but also as a cradle of some new species.     

The Early Neolithic site at Hoge Vaart, Almere, the Netherlands, with particular reference to non-diffusion of crop plants, and the significance of site function and sample location

The construction of a new motorway necessitated the excavation of an Early Neolithic site in the Dutch Flevopolder near the Hoge Vaart canal. In 1994-1996, an area of ca. 1700 m² was excavated in 0.5x0.5-m squares. The excavation revealed 150 surface hearths and more than a hundred deep hearth pits. The finds, mainly flint and pottery, as well as¹⁴C dates from charcoal demonstrated that the area had been used mainly during the Early Neolithic (ca. 4900–4500 cal. B.C.). The investigation of the Early Neolithic remains included detailed botanical analyses of 182 samples and hand-sorting by the excavation team, which included archaeobotanists, of tens of thousands of samples sieved over 2-mm-mesh sieves. No remains of cultivated plants were recognised among the 87 taxa (40 identified to species level) that were preserved, mainly in carbonised form. These results are compared with other Early Neolithic sites studied in the Netherlands, such as Swifterbant S3 and Schokland P14. The possible significance of site function and sample location as important factors influencing presence/absence of cultivated plant remains at a particular site is discussed.     

可控多孔生物陶瓷制备技术中保温时间的影响研究

保温时间是可控多孔生物陶瓷制备技术的重要影响因之一。为了得到这具体影响,特对其进行了研究和探讨。研究结果表明,保温时间对孔结构、气孔率与容重、水渗透率、收缩率以及强度有着重要的影响。