DXS6804/DXS9896/GATA144D04基因座在中国汉族群体中的遗传多态性及其法医学应用Genetic

为了调查X染色体上DXS6804、DXS9896和 GATA144D04等3个STR基因座在中国汉族群体的遗传多态性及其法医学应用价值,来用PCR和聚丙烯酰胺凝胶电泳对X染色体3个STR基因座进行分型,并检验女性基因型频率分布是否符合Hardy-Weinberg平衡,计算法医学常用各种概率。DXS6804、DXS9896和 GATA144D04的非父排除率分别为0.5990、0.6220、0.4280,表明3个STR基因座在中国汉族群体均具有遗传多态性,χ2检验表明女性的基因型频率分布符合Hardy-Weinberg平衡。X染色体上的基因座DXS6804、DXS9896和 GATA144D04在中国汉族群体中具有较高的遗传多态性,可应用于法医学检验和群体遗传学分析。 Abstract： To investigate the genetic polymorphisms of three short tandem repeats loci of chromosome X in Chinese Han population in Chengdu area and its use in forensic science. Three X-chromosome linked short tandom repeat loci were analyzed by PCR followed by polyacrylamide gel electrophoresis. Hardy-Weinberg equilibrium was tested and forensic interested value was calculated .The power of exlcution of DXS6804、DXS9896和 GATA144D04 is 0.5990、0.6220、0.4280,respectively. The result showed that all the three STR loci were polymorphic among 100 unrelated females and 120 unrelated males from Chinese Han population. χ2 tests demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Three X-chromosome linked short tandem repeat loci have high polymorphism, they can be applied to forensic medicine and population genetics.     

中国甘肃裕固族X-STR遗传多态性及其应用研究

为研究中国甘肃裕固族人群X染色体STR基因座的遗传多态性及其在群体遗传学中的应用, 采用PCR扩增, 变性聚丙烯酰胺凝胶电泳结合银染显带技术, 检测120名(女55, 男65)裕固族无关个体9个X-STR基因座(DXS7130、DXS7132、DXS6804、DXS7423、DXS7424、DXS6789、DXS6799、DXS8378和HPRTB)的等位基因频率及基因型分布, 以及存在连锁的X-STR基因座的单体型多态性; 同时, 利用X-STR构建系统发生树和进行聚类分析, 分析裕固族与我国其他民族的群体遗传关系。结果发现, DXS7130、DXS7132、DXS6804、DXS7423、DXS7424、DXS6789、DXS6799、DXS8378和HPRTB基因座分别检出8、6、6、5、6、7、6、4、6个等位基因和16、14、13、6、13、20、11、6、12种基因型, 9个X-STR基因座女性的基因型频率分布均符合Hardy-Weinberg平衡(P>0.05)。由DXS7130和DXS8378基因座组成的单体型共检出15种, 由DXS6789、DXS6799、DXS7424和DXS6804基因座组成的单体型共检出55种, 单体型多样性分别为0.8212和0.9947。群体遗传多态性指标显示上述9个X-STR基因座均具有较高多态性, 在法医学个体识别、亲权鉴定及群体遗传学研究中有重要应用价值。对裕固族与我国其他民族群体遗传关系的研究结果显示, 裕固族与蒙古族及同处西北的汉族、藏族关系较近, 而与回族、维族关系较远, 提示裕固族是一个在起源上与蒙古族、汉族以及藏族关系密切的民族群体。     

用复合PCR检测DXS7132和DXS6804的单倍型

建立X染色体短串联重复基因座DXS7132和DXS6804的复合扩增系统,并用聚丙烯酰胺凝胶电泳和银染技术进行分型,调查广东汉族人群该二基因座的多态性。结果发现DXS7132有7个等位基因,扩增产物的生长在276-300bp;DXS6804有6个等位基因,扩增产物的长度在177-201bp。序列分析揭示这两个基因座的重复单位均为四核苷酸重复。由于基因组作图信息显示DXS7132和DXS6804之间存在紧密连锁,故用家系分析法确定女性的单体型。在827条染色体（男性211,女性616）中,共发现了33种单体型,女性的二倍体数据符合Hardy-Weinberg平衡。基因多样性、多态性信息量和女孩非父排除率分别达0.9999、0.9440和0.9411。对308个三联体的家系调查表明这两个基因座符合X染色体共显性遗传,未发现突变。结果表明,DXS7231和DXS6804在女孩的亲权认定,特别是缺乏双亲检验的案件中有重要的应用价值。     

云南白族、傣族、彝族X染色体STR基因座的遗传多态性及其与中国5个主要民族的遗传关系

应用复合PCR及基因扫描技术, 对云南白族、傣族、彝族人群X染色体3个STR基因座DXS6804、DXS6799、DXS7132的遗传多态性进行研究。白族89个样本中共检出18个等位基因, 38个基因型, 等位基因频率分布在0.0200~0.6400之间, 基因型频率分布在0.0256~0.3333之间; 傣族100个样本中共检出17个等位基因, 24个基因型, 等位基因频率分布在0.0135~0.7500之间, 基因型频率分布在0.0385~0.5769之间; 彝族88个样本中共检出20个等位基因, 35个基因型, 等位基因频率分布在0.0125~0.5875之间, 基因型频率分布在0.0250~0.3500之间。群体遗传多态性指标及法医学应用指标统计结果显示, 3个基因座在云南3个少数民族人群中均具有高度多态性。聚类分析和系统进化关系分析发现, 彝族、白族、傣族与藏族之间的遗传关系较近。     

广西毛南族DXS7133、DXS8378、DXS6789和DXS7423基因座遗传多态性

采用PCR-STR及基因分型技术,对广西毛南族167名(女57,男110)健康无关个体4个X-STR基因座(DXS7133、DXS8378、DXS6789和DXS7423)的遗传多态性进行研究。结果显示4个X-STR基因座分别检出4、5、9、3个等位基因和5、9、18、5种基因型,4个X-STR基因座女性的基因型频率分布均符合Hardy-Weinberg平衡定律(P>0.05)。群体遗传多态性指标为:多态信息含量(PIC)0.9611、男性个体识别率(DPmale)0.9771、女性个体识别率(DPfemale)0.9980、父-母-女三联体非父排除率(MECtrio)0.9611、父-女二联体非父排除率(MECduo)0.8821,显示上述4个X-STR基因座均具有较高多态性,在法医学个人识别、亲权鉴定及群体遗传学研究中有重要应用价值,同时也为人类群体遗传学、法医学等研究提供了广西毛南族群体X-STR基因座的基础数据,丰富了中华民族基因数据库。     

中国纳西族STR遗传结构研究

采用荧光标记STR基因扫描技术对纳西族进行了STR多态性调查。 9个STR基因座在纳西族群体中 ,检出72个等位基因、16 5种基因型 ,其频率分布在 0 .0 0 5 2～ 0 .5 2 0 8和 0 .0 10 4～ 0 .30 2 1。χ2 检验表明 ,各基因座的基因型分布符合Hardy Weinberg平衡定律 (P >0 .0 5 )。统计学结果显示 ,这些遗传标记在纳西族群体中 ,H均大于 0 .6 ,平均PIC高于 0 .7,平均DP在 0 .8以上 ,EPP也都超过了 0 .5。说明实验所选STR标记在进行民族群体遗传学研究时是极有价值的     

9号染色体短臂上7个STR基因座在基因扫描中的信息表现

为了初步探讨7个位于染色体9p区域的短串联重复序列(shorttandemrepeat,STR)基因座:D9S288、D9S157、D9S1748、D9S171、D9S161、D9S1817和D9S1805在遗传学研究及法医学应用中的意义,随机抽取225名湖南汉族无关个体,复合PCR技术扩增上述基因座,ABI377全自动测序仪进行基因分型,共检出75种等位基因,通过对基因型及等位片断频率分布的研究和数据统计分析,7个基因座基因频率分布在0.002～0.800之间,构成243种基因型。7个STR基因座基因型分布均符合Hardy Weinberg平衡定律(P>0.05),杂合度(heterozygosity,H)介于0 347～0.844之间,个体识别力(discriminationpower,DP)为0.346～0.841,非父排除率(probabilitiesofpaternityexclusion,PPE)为0.308～0.738,多态信息含量(polymorphicinformationcontent,PIC)在0.328～0.822之间。种族比较结果显示,湖南汉族与非洲黑人及欧洲白人在大多数基因座均存在显著差异(P<0.001)。研究结果丰富了中华民族基因数据库,在人类群体遗传学及法医学研究领域有重要应用价值。     

中国新疆维吾尔族DXS101遗传多态性研究

目的：研究DXS101位点在中国新疆维吾尔族群体中的遗传结构分布特征。方法：采用PCR扩增,变性聚丙烯酰胺凝胶电泳结合银染显带技术,检测100名（女42,男58）维吾尔族无关个体DXS101位点等位基因及基因型频率分布。结果：在女性样本中,DXS101位点检出9种等位基因和17种基因型;在男性样本中,DXS101位点检出7种等位基因：该位点在女性中的个体识别率为0．8937,多态信息量为0．8072,杂合度为0．8156,在男性中的个体识别率为0．6674。结论：群体遗传多态性指标显示DXS101位点在新疆维吾尔族群体中具有较高多态性,在维吾尔族群体法医学个体识别、亲权鉴定及群体遗传学研究中有重要应用价值。     

云南纳西族10个X-STR基因座遗传多态性研究

为研究云南纳西族人群10个位于X染色体的短串联重复序列基因座及单倍型的遗传多态性, 采用PCR扩增, 变性聚丙烯酰胺凝胶电泳结合银染显色分型技术, 对98名云南纳西族无关男性个体X染色体的10个STR基因座进行基因分型。结果显示, 98名无关男性个体中, DXS7423、DXS7424、DXS6799、DXS7133、DXS6804、DXS8378、HPRTB、DXS7130、DXS7132 和DXS6789分别检出4、7、6、3、6、5、5、7、6和8个等位基因, 等位基因频率分布在0.0102(DXS7132、DXS6789)~0.7347(DXS7133)之间。由DXS8378与DXS7130基因座组成的单倍型共检出20种, 由DXS6789、DXS6799和DXS7424基因座组成的单倍型共检出56种, 单倍型多样性分别为0.8553和0.9649, 说明所选的10个X-STR位点有较高的多态性信息, 在基因组多样性研究、法医学个体识别、亲权鉴定中具有重要应用价值。     

中国新疆维吾尔族DXS101遗传多态性研究

目的:研究DXS101位点在中国新疆维吾尔族群体中的遗传结构分布特征。方法:采用PCR扩增,变性聚丙烯酰胺凝胶电泳结合银染显带技术,检测100名(女42,男58)维吾尔族无关个体DXS101位点等位基因及基因型频率分布。结果:在女性样本中,DXS101位点检出9种等位基因和17种基因型;在男性样本中,DXS101位点检出7种等位基因。该位点在女性中的个体识别率为0.8937,多态信息量为0.8072,杂合度为0.8156,在男性中的个体识别率为0.6674。结论:群体遗传多态性指标显示DXS101位点在新疆维吾尔族群体中具有较高多态性,在维吾尔族群体法医学个体识别、亲权鉴定及群体遗传学研究中有重要应用价值。     

Recent advances in the study of Kaposi's sarcoma-associated herpesvirus replication and pathogenesis

It has now been over twenty years since a novel herpesviral genome was identified in Kaposi's sarcoma biopsies. Since then, the cumulative research effort by molecular biologists, virologists, clinicians, and epidemiologists alike has led to the extensive characterization of this tumor virus, Kaposi's sarcoma-associated herpesvirus(KSHV; also known as human herpesvirus 8(HHV-8)), and its associated diseases. Here we review the current knowledge of KSHV biology and pathogenesis, with a particular emphasis on new and exciting advances in the field of epigenetics. We also discuss the development and practicality of various cell culture and animal model systems to study KSHV replication and pathogenesis.     

A Unique Protease Cleavage Site Predicted in the Spike Protein of the Novel Pneumonia Coronavirus (2019-nCoV) Potentially Related to Viral Transmissibility

正Dear Editor,In December 2019, a novel human coronavirus caused an epidemic of severe pneumonia(Coronavirus Disease 2019,COVID-19) in Wuhan, Hubei, China(Wu et al. 2020; Zhu et al. 2020). So far, this virus has spread to all areas of China and even to other countries. The epidemic has caused 67,102 confirmed infections with 1526 fatal cases     

Curcuminoids as inhibitors of thioredoxin reductase: A receptor based pharmacophore study with distance mapping of the active site

Curcumin is the yellow pigment of turmeric that interacts irreversibly forming an adduct with thioredoxin reductase (TrxR), an enzyme responsible for redox control of cell and defence against oxidative stress. Docking at both the active sites of TrxR was performed to compare the potency of three naturally occurring curcuminoids, namely curcumin, demethoxy curcumin and bis-demethoxy curcumin. Results show that active sites of TrxR occur at the junction of E and F chains. Volume and area of both cavities is predicted. It has been concluded by distance mapping of the most active conformations that Se atom of catalytic residue SeCYS498, is at a distance of 3.56 from C13 of demethoxy curcumin at the E chain active site, whereas C13 carbon atom forms adduct with Se atom of SeCys 498. We report that at least one methoxy group in curcuminoids is necessary for interation with catalytic residues of thioredoxin. Pharmacophore of both active sites of the TrxR receptor for curcumin and demethoxy curcumin molecules has been drawn and proposed for design and synthesis of most probable potent antiproliferative synthetic drugs.     

The structure, reproduction and taxonomy of Vidalia and Osmundaria (Rhodophyta, Rhodomelaceae)

Comprises species occurring mostly in subtidal habitats in tropical, subtropical and warm-temperate areas of the world. An analysis of the type species, V. spiralis (Sonder) Lamouroux ex J. Agardh, a species from Australia, establishes basic characters for distinguishing species in the genus. These characters are (1) branching patterns of thalli, (2) flat blades that may be spiralled on their axis, (3) width of the blade, (4) primary or secondary derivation of sterile and fertile branchlets and (5) position of sterile and fertile branchlets on the thalli. Application of the latter two characters provides an important basic method for separation of species into three major groups. Osmundaria , a genus known only in southern Australia, was studied in relation to Vidalia , and its separation from the Vidalia assemblage is not accepted. Species of Vidalia therefore are transferred to the older genus name, Osmundaria. Two new species, Osmundaria papenfussii and Osmundaria oliveae are described from Natal. Confusion in the usage of the epithet, Vidalia fimbriala Brown ex Turner has been clarified, and Vidalia gregaria Falkenberg, described as an epiphyte on Osmundaria pro/ifera Lamouroux, is revealed to be young branches of the host, Osmundaria prolifera.     

New or rare chromosome counts in Artemisia L. (Asteraceae, Anthemideae) and related genera from Kazakhstan

Fifteen chromosome counts of six Artemisia taxa and one species of each of the genera Brachanthemum, Hippolytia, Kaschgaria, Lepidolopsis and Turaniphytum are reported from Kazakhstan. Three of them are new reports, two are not consistent with previous counts and the remainder are confirmations of very scarce (one to four) earlier records. All the populations studied have the same basic chromosome number, x = 9, with ploidy levels ranging from 2x to 6x. Some correlations between ploidy level, morphological characters and distribution are noted.