小尾寒羊促卵泡素受体基因5′端序列的TaqI酶切多态性分析

采用PCR -RFLP技术 ,TaqI酶切、分析了 38头份样品的小尾寒羊FSHR基因 5′端转录启动调控区序列。检测结果未发现多态性 ,在牛FSHR基因 5′端 - 387→ - 384位点 ,中国西门塔尔牛表现TaqI酶切多态的位点 ,小尾寒羊表现为无TaqI酶切序列的B等位基因类型 ,所有个体均为BB型。由于小尾寒羊的双羔率在10 0 %以上 ,通过比较表明 :FSHR基因转录启动调控区的B型DNA序列对提高双胎率有正效应     

7个绵羊和7山羊品种DLX3基因3′非编码区803A>G突变的检测

DLX3基因3′非编码区803AG突变与法国Lacaune绵羊高繁殖力密切相关座位FecL高度连锁。本研究采用PCR-SSCP方法在具有不同繁殖力的7个绵羊品种(湖羊、小尾寒羊、洼地绵羊、杜泊、陶赛特、特克塞尔、德国美利奴羊)和7个山羊品种(济宁青山羊、贵州白山羊、金堂黑山羊、成都麻羊、辽宁绒山羊、波尔山羊、安哥拉山羊)中检测DLX3基因803AG突变,探究该突变与绵羊和山羊高繁殖力的关联性。结果表明这14个绵羊和山羊品种都不存在c.~*803AG突变,提示DLX3基因的c.~*803AG突变对这14个绵羊和山羊的繁殖力没有显著影响。     

五个山羊群体微卫星标记的遗传多样性分析

利用微卫星标记技术,分析了山西黎城大青羊、吕梁黑山羊、波尔山羊、南江黄羊（黑）、南江黄羊（黄）五个山羊群体的分子水平上的遗传多样性,结果表明：7个微卫星位点均为高度多态位点。可以用于山羊群体遗传多样性的评估;平均多态信息含量（PIC）达0．8341～0．9026;5个山羊群体平均观察杂合度（0．6258-0．8629）均低于平均期望杂合度（0．8594—0．9115）,证明5个山羊种群具有丰富的遗传多样性和广泛的遗传基础,但品种内存在着一定程度的近交,尤其波尔山羊近交较严重。以Nei氏标准遗传距离为基础的UPGMA和N-J聚类结果表明：吕粱黑山羊与南江黄羊（黑）首先聚为一类,而没和黎城大青羊先聚：国内四个山羊群体与国外品种波尔山羊亲缘关系较远。     

MSTN基因g+6723G>A位点与胴体体尺、不同部位肌肉重等胴体性状的关联分析

为探究MSTN基因g+6723G>A对绵羊胴体相关性状的影响。本文以Texel×Altay杂交进行MSTN基因的导入,经繁殖后的横交F2代羊为实验群体,对208只F2代羔羊体重、体尺及胴体性状指标进行测量和关联分析。横交F2代羊MSTN基因3’UTR检测出3种基因型,两个等位基因。其基因型频率以AG型最高,G为优势等位基因;分析发现,不同基因型中AA基因型的体重、胴体重、左带臀腿重量显著高于GA与GG基因型（P<0.05）,GG基因型尾部脂肪显著高于AA基因型（P<0.05）,GA基因型尾部脂肪与GG基因型无差异显著（P>0.05）,在不同基因型间AA与GG基因型出生重、眼肌长、臀宽差异显著（P<0.05）,其他指标无显著差异（P>0.05）。本研究结果表明,MSTN基因g+6723G>A位点对绵羊的生长性状有影响,该位点可作为绵羊生长发育的候选遗传标记,为绵羊选种选育提供重要参考。     

小尾寒羊促卵泡素受体基因5''''端序列的TaqI酶切多态性分析

采用PCR-RFLP技术，TaqI酶切、分析了38头份样品的小尾寒羊FSHR基因5‘端转录启动调控区序列。检测结果未发现多态性，在牛FSHR基因5‘端-387→-384位点，中国西门塔尔牛表现TaqI酶切多态的位点，小尾寒羊表现为无TaqI酶切序列的B等位基因类型，所有个体均为BB型。由于小尾寒羊的双羔率在100%以上，通过比较表明：FSHR基因转录启动调控区的B型DNA序列对提高双胎率有正效应。     

南江黄羊GH基因外显子3多态性及其对生长性状的影响

本试验采用PCR-SSCP方法检测405只南江黄羊GH基因外显子3多态性,并与生长性状进行关联分析。结果表明:南江黄羊生长激素基因第1161处碱基发生了G→A突变,该突变为同意义突变;第1171位点碱基发生G→A突变,该突变引起了生长激素的第89个氨基酸发生替代,丝氨酸(Ser)替代了甘氨酸(Gly);经最小二乘分析,基因型效应对初生重、2月龄体长、2月龄胸围、6月龄体重、6月龄体长、6月龄体高、6月龄胸围、12月龄体长和12月龄胸围的影响不显著;对2月龄体重和体高、12月龄体重和体高影响显著,基因型BB所对应2月龄体高显著高于基因型AC(P<0.05);基因型AA和BB所对应的2月龄体重、12月龄体重和体高最小二乘均值显著高于基因型CC和基因型AC所对应的最小二乘均值(P<0.05)。因此,可以利用该位点的多态对南江黄羊生长性状进行标记辅助选择。     

巴什拜羊MC4R基因多态性及其与生长性状的关联分析

试验旨在研究黑素皮质素受体-4(melanocortin-4 receptor,MC4R)基因在巴什拜羊中的多态性及其与生长性状的关系,探寻可用于巴什拜羊选育的分子遗传标记。试验以随机采取的300只巴什拜羊个体的血样作为试验材料,运用PCR-SSCP和DNA测序等技术对MC4R基因的部分外显子进行遗传多态性检测并与生长性状进行关联性分析。结果发现:巴什拜羊中MC4R基因有多态性,存在2种基因型:GG和GC,且处于Hardy-Weinberg平衡(P0.05),多态信息含量为0.159,属于低度多态(PIC0.25)。测序结果显示,与原基因碱基序列相比,MC4R基因碱基序列在893(G→C)处发生突变。与巴什拜羊生长性状进行关联分析可知,GC型个体的胸围和体重都显著高于GG型个体(P0.05)。巴什拜羊MC4R基因在G893C处表现的多态有可能作为一种遗传标记。     

中国美利奴羊(新疆型)血红蛋白多态性与生产性能的关系

自1955年Harris等发现绵羊血红蛋白(Hb)有AA、AB、BB三种表现型以来,绵羊Hb多态性方面的研究日趋活跃,其研究内容不仅涉及HB型多态的特点,而且已涉及到Hb的地区差异及与生产性能和繁殖性能关系的研究。 本研究旨在了解中国美利奴羊(新疆型)的Hb多态性及与经济性状的关系。研究中采用醋酸纤维薄膜电泳法对中国美利奴羊育种场(巩乃斯种羊场)的3183只中国美利奴羊的血样进行了Hb分型。Hb多态表现为由两个等显性等位基因Hb~A和Hb~B控制的三种表现型HbAA、HbAB和HbBB,其基因和基因型频率分别为0.3566、0.6434和0.1313、0.4505、0.4182。同时进行了Hb多态型与经济性状关系的分析,结果为:1.不同Hb型间在产毛量、初生重和断奶重方面存在着显著差异,Hb~A因子为产毛量的优势因子,Hb~B因子为初生重和断奶重的优势因子;2.不同Hb型间在毛长、净毛率和繁殖性能方面未表现出明显差异。     

汉族人群诱导性一氧化氮合酶T-786C、G894T基因多态性与脓毒症易感性的关系

目的 探索汉族人群内皮型一氧化氮合酶(eNOS)T-786C、G894T基因多态性中对脓毒症存在易感的高风险等位基因或基因型.方法 2007年4月～2009年5月,在北京9家教学医院ICU随机收集脓毒症患者117例,并招募健康志愿者100名作为对照,应用PCR-SSCP及PCR-RLFP方法检测eNOS T-786C、G894T的等位基因和基因型.结果 脓毒症患者与健康人群之间eNOS T-786C及G894T各等佗基因或基因型的发生频率无显著差异(P>0.05).但脓毒症患者中TC基因型的出现频率(30.8%)与健康人群(24.0%)相比有增加趋势(P=0.086);等位基因C携带者的比例(18.8%)高于健康人群(12.0%),但未达到统计学差异(P=0.052).117例脓毒症患者中发现4例CC纯合子基因型个体,占3.4%;健康对照组中未发现CC纯合子基因型个体.结合既往文献结果进行分析发现,eNOS T-786C和G894T各基因型的出现频率存在种族差异,与白种人比较,亚洲黄种人eNOS T-786C基因型TC、CC以及G894T基因型GT、TT的出现频率均显著降低(P=0.000).结论 eNOS T-786C等位基因C或基因型TC的携带人群对脓毒症可能存在易感趋势,而G894T基因多态性与脓毒症易感性无密切关系.     

和田羊KRT31和KRT85基因遗传多态性及其 与羊毛性状关联性分析

试验旨在研究KRT31和KRT85基因是否是影响和田羊羊毛性状的候选基因,为今后和田羊的育种工作和改善羊毛性状提供科学依据。采集400只和田羊血样,运用PCR-SSCP和DNA测序等技术对和田羊个体的KRT31和KRT85基因进行遗传多态性分析。结果表明:和田羊KRT31和KRT85基因具有多态性,且均存在两种基因型,都处于Hardy-Weinberg平衡状态(P>0.05),KRT31基因多态信息含量(PIC)为0.233,属于低度多态(PIC<0.25)。KRT85基因多态信息含量(PIC)为0.346,属于中度多态(0.250.05)。KRT85基因在外显子2的204bp处存在A到G的突变,可以记作A204G。对氨基酸序列进行比较分析,该基因上A204G处的突变并未使氨基酸的编码发生改变,此位点突变为同义突变。与羊毛性状关联分析得出,AA和AB两种基因型的羊毛长度及细度差异均不显著(P>0.05)。说明和田羊KRT31基因可以作为影响和田羊羊毛性状的候选基因。     

Knee injury and Osteoarthritis Outcome Score (KOOS) - validation of a Swedish version

The Knee injury and Osteoarthritis Outcome Score (KOOS) is a self-administered instrument measuring outcome after knee injury at impairment, disability, and handicap level in five subscales. Reliability, validity, and responsiveness of a Swedish version was assessed in 142 patients who underwent arthroscopy because of injury to the menisci, anterior cruciate ligament, or cartilage of the knee. The clinimetric properties were found to be good and comparable to the American version of the KOOS. Comparison to the Short Form-36 and the Lysholm knee scoring scale revealed expected correlations and construct validity. Item by item, symptoms and functional limitations were compared between diagnostic groups. High responsiveness was found three months after arthroscopic partial meniscectomy for all subscales but Activities of Daily Living.     

Endovascular management of carotid-cavernous fistulas

Objective To investigate endovascular treatment of traumatic direct carotid-cavernous fistulas （CCF） and their complications such as pseudoaneurysms. Methods： Over a five-year period, 22 patients with traumatic direct CCFs were treated endovascularly in our institution. Thirteen patients were treated once with the result of CCF occluded, 8 twice and 1 three times. Treatment modalities included balloon occlusion of the CCF, sacrifice of the ipsilateral internal carotid artery with detachable balloon, coll embolization of the cavernous sinus and secondary pseudoaneurysms, and covered-stem management of the pseudoaneurysms. Results All the direct CCFs were successfully managed endovascularly. Four patients developed a pseudoaneurysm after the occlusion of the CCF with an incidence of pseudoaneurysm formation of 18.2% （4/22）. A total number of 8 patients experienced permanent occlusion of the ICA with a rate of ICA occlusion reaching 36.4% （8/22）. Followed up through telephone consultation from 6 months to 5 years, all did well with no recurrence of CCF symptoms and signs. Conclusion Traumatic direct CCFs can be successfully managed with endovascular means. The pseudoaneurysms secondary to the occlusion of the CCFs can be occluded with stent-assisted coiling and implantation of covered stents.     

The acutely limping child

Acute limping may be the result of multiple pathologies in children. The differential diagnosis varies based on the age of the child. Irrespective of age, the initial imaging work-up includes AP and frog leg radiographs of the pelvis and ultrasound; MRI may sometimes be helpful. In children less than 3 years, infections and trauma are most frequent. MRI is the imaging modality of choice when osteomyelitis is clinically suspected. Between the ages of 3 and 10 years, transient synovitis of the hip and Legg-Calvé-Perthes disease are main considerations but infection, inflammation and focal bony lesions are also considered. In children over 10 years, slipped capital femoral epiphysis also is considered.     

Do Balance Board Training Programs Reduce the Risk of Ankle Sprains in Athletes?

Introduction Ankle sprains are the most common musculo-skeletal injury that occurs in athletes,particularly in sports that require jumping and landing on one foot such as soccer,and basketball(1-4).These injuries often result in significant time loss from participation,long-term disability,and have a major impact on health care costs and resources(5-8).     

High Intensity Interval Training:New Insights

KEY POINTS ·High-intensity interval training(HIT)is characterized by repeated sessions of relatively brief，intermittent exercise.often performed with an“a11 out”effort or at an intensity close to that which elicits peak oxygen uptake(i.e.，≥90%of VO2 peak).     

Developmental validation of the PowerPlex(®) ESI 16 and PowerPlex(®) ESI 17 Systems: STR multiplexes for the new European standard

In response to the ENFSI and EDNAP groups’ call for new STR multiplexes for Europe, Promega^® developed a suite of four new DNA profiling kits. This paper describes the developmental validation study performed on the PowerPlex^® ESI 16 (European Standard Investigator 16) and the PowerPlex^® ESI 17 Systems. The PowerPlex^® ESI 16 System combines the 11 loci compatible with the UK National DNA Database^®, contained within the AmpFlSTR^® SGM Plus^® PCR Amplification Kit, with five additional loci: D2S441, D10S1248, D22S1045, D1S1656 and D12S391. The multiplex was designed to reduce the amplicon size of the loci found in the AmpFlSTR^® SGM Plus^® kit. This design facilitates increased robustness and amplification success for the loci used in the national DNA databases created in many countries, when analyzing degraded DNA samples. The PowerPlex^® ESI 17 System amplifies the same loci as the PowerPlex^® ESI 16 System, but with the addition of a primer pair for the SE33 locus. Tests were designed to address the developmental validation guidelines issued by the Scientific Working Group on DNA Analysis Methods (SWGDAM), and those of the DNA Advisory Board (DAB). Samples processed include DNA mixtures, PCR reactions spiked with inhibitors, a sensitivity series, and 306 United Kingdom donor samples to determine concordance with data generated with the AmpFlSTR^® SGM Plus^® kit. Allele frequencies from 242 white Caucasian samples collected in the United Kingdom are also presented. The PowerPlex^® ESI 16 and ESI 17 Systems are robust and sensitive tools, suitable for the analysis of forensic DNA samples. Full profiles were routinely observed with 62.5 pg of a fully heterozygous single source DNA template. This high level of sensitivity was found to impact on mixture analyses, where 54–86% of unique minor contributor alleles were routinely observed in a 1:19 mixture ratio. Improved sensitivity combined with the robustness afforded by smaller amplicons has substantially improved the quantity of data obtained from degraded samples, and the improved chemistry confers exceptional tolerance to high levels of laboratory prepared inhibitors.