Penta D、 Penta E和SE33位点基因分型在二联体亲子鉴定中的应用

摘要：目的 研究增加Penta D、 Penta E和SE33位点基因座的检测后,对二联体亲子鉴定RCP值的影响。 方法 对二联体亲子鉴定案例除了进行ABI公司提供的AmpFISTR IdentifilerTM试剂盒中的15个STR位点检测以外,增加美国Promega公司的Penta D、 Penta E和SE33试剂盒复合扩增STR位点的检测,并计算增加检测位点前后的亲子关系指数（PI）和亲子关系相对机会（RCP）。 结果 135例二联体亲子鉴定案件中有109例常染色体RCP值大于99.99%,频率为80.74%。26例RCP值小于99.99%,频率为19.26%。增加Penta D、 Penta E和SE33位点基因座检测后有83.33%的家系由原来的RCP值小于99.99%转变为RCP值大于99.99%。 结论 增加遗传标记物的检测可以有效的提高二联体亲子鉴定的RCP值,从而提高鉴定的准确性。     

546例亲子鉴定案件中基因突变的观察和分析

目的:在亲权鉴定案件中经常可以观察到突变,突变会直接影响到亲权指数(PI)的计算。这里我们观察分析15个STR基因座在山西汉族人群亲子鉴定案件中的突变特点和规律。方法:546例确认亲子关系案件来自于山西汉族人群,包括父-母-子三联体案件383例,二联体案件163例。用含15个STR基因座的Power Plex16 System kit试剂盒对上述案例进行分析。结果:在546例亲子鉴定案件中共有22例出现突变,Penta E,D5S818,D7S820,v WA,D21S11 5个位点均出现3例突变,突变率最高为0.32%;FGA,D8S1179 2个位点突变均为2例,突变率为0.22%;CSF1PO,D3S1358,D18S51 3个位点突变均为1例,突变率为0.11%;未观察到其余基因座的基因突变。22例突变全部为一步突变,其中来自父亲的突变10例,来自母亲7例,5例无法确定突变来源。22例突变中增加1个基序的10例,减少1个基序的10例,增加减少不明确的2例。结论:山西汉族人群常染色体STR的突变率在0%~0.32%之间,该数据为计算突变情况下的亲权指数提供了数据支持。     

短串联重复序列检测法在江苏地区亲子鉴定的应用

目的:分析短串联重复序列(STR)基因座在江苏汉族人群亲子鉴定的应用.方法:取在本中心进行亲权鉴定的1 016个案例共2558份样本,提取DNA.用PCR特异性扩增出18个STR基因位点,聚丙烯酰胺凝胶电泳分型检测.以亲子关系指数(RCP)≥99.99%为认定亲权关系,以≥3个基因位点不符为排除亲权关系.结果:1016个案例中,认定亲权关系为758例,占75%,排除亲权关系为258例,占25%.19例表现出1个STR基因座突变现象.结论:STR基因检测位点多,多态性高、分布广泛、灵敏度高、易检测.联合使用多个STR位点进行检测可作为亲子鉴定的主要技术手段.     

ABO血型遗传异常的亲子鉴定案例分析

目的探讨应用短串联重复序列(STR)基因位点检测技术开展亲子鉴定的可行性。方法采用PCR复合扩增技术、毛细管电泳及五色荧光自动化检测技术对2例亲子鉴定案例6份血液样本,进行了15个STR基因位点和1个Am elogen in性别基因位点检测分析。认定亲权关系的均以亲子关系指数(RCP)≥99.73%为准,排除亲权关系的则以≥3个以上基因位点不符为依据。结果1例排除亲子关系,另1例不排除亲子关系。结论STR位点的基因扫描方法简便、省时、快速、灵敏度高,结果准确可靠。     

亲子鉴定常用 STR 基因座突变的特点

目的：探讨亲子鉴定中常用STR基因座突变的特点。方法检测华南地区3097例肯定亲权关系的亲子鉴定案例,观察STR基因座等位基因突变情况,统计各STR基因座突变率,分析突变来源、突变规律和突变特点。结果共发现94例突变案例,101个突变STR基因座。5个家系中出现2个STR 基因座位点同时突变。STR基因座突变率在0.0199％～0.1994％之间,Penta E基因座突变率最高。来源于父系突变与母系突变比例为4.2∶1。突变符合逐步突变模式,1步突变88例,占突变案例总数的93.6％。结论亲子鉴定检测中STR基因座等位基因突变的现象并不罕见,对鉴定结果分析有重要影响。对于突变的STR基因座,增加检测其他STR基因座位点的同时,应结合突变STR基因座亲权指数值的计算方法,计算得到累计亲权指数,从而得出正确的鉴定结论。     

Identifiler体系在亲子鉴定中的应用分析

目的 运用AmpFlSTR Identifiler PCR 扩增试剂盒用于亲子鉴定126例,探索此试剂盒在亲子鉴定案例中的应用价值.方法 采用荧光标记STR-PCR复合扩增、毛细管电泳基因分型技术,应用ABI 310遗传分析仪对126例亲子鉴定的个体进行15个STR位点的基因分型.结果 在126例亲子鉴定中,否定亲权的25个案例中均至少有3个位点不符;认定亲权的101例中,亲子关系指数(RCP)均＞99.98%,在认定的亲子关系中,有3例出现1个位点的基因突变.结论 应用Identifiler 体系的15个STR位点的基因鉴定,能成功地开展亲子鉴定,并显著提高了亲子关系指数.     

常染色体短串联重复序列基因座在河南汉族人群亲子鉴定中的应用

目的：分析24个常染色体短串联重复序列（STR）在河南省汉族群体的遗传多态性及其在亲子鉴定案例中的应用价值。方法：应用多位点复合PCR扩增技术及聚丙烯酰胺凝胶电泳分型技术,对773例亲子鉴定案例进行分析。结果：D7S3048、D18S51、D8S1179、D8S1132、D11S2368、D2S1338、D4S2639和D12S391的个体识别率≥0.94,观察杂合度≥0.79,多态性信息含量≥0.80,且这些位点参与联合排除父权率均在40%以上。结论：短串联重复序列D7S3048、D18S51、D8S1179、D8S1132、D11S2368、D2S1338、D4S2639和D12S391可作为亲子鉴定的首选基因座,在法医学应用和群体遗传学研究中有较高的价值。     

Identifiler & STRtyper-10F/G系统在单亲亲子鉴定中的应用分析

目的应用AmpFISTR IdentifilerTM和STRtyper-10F/G PCR扩增试剂盒,检测195例亲子鉴定案例,分析2个系统在单亲亲子鉴定中的应用价值。方法采用Chelex-100法提取全血基因组DNA,通过IdentifilerTM和STRtyper荧光标记试剂盒对24个STR基因座进行检测,判定基因分型。结果 195例单亲亲子鉴定中,认定亲生血缘关系182例(93.33%),累计PI值大于或等于10 000,RCP>99.999 9%。排除亲生血缘关系13例(6.67%),排除STR位点数5~16范围。在IdentifilerTM检测系统中,1个案例的vWA出现一步突变,1/182(0.55%),其他基因座检测结果均符合遗传规律。结论应用Identifiler和STRtyper系统的24个STR基因座进行DNA亲权鉴定,能准确地提高亲子鉴定判断结果,有效力地避免错误判性发生。     

浙江省汉族人群18-STR基因座的分型资料及其应用

【目的】 建立浙江地区汉族人群18个STR基因座(D8S1179､D21S11､D7S820､CSF1PO､D3S1358､TH01､D13S317､D16S539､D2S1338､D19S433､VWA､TPOX､D18S51､D5S818､FGA､PentaE､PentaD､SE33)的遗传多态性数据资料,并探讨18-STR鉴定分析系统在亲子鉴定､产前诊断等领域的应用｡ 【方法】 对浙江汉族598例无血缘关系个体,采用2组荧光标记STR-PCR复合扩增系统及毛细管电泳基因分型技术,获取18个STR基因座数据资料;在497个亲子鉴定案例中,比较18-STR与15-STR鉴定系统在亲子鉴定和产前诊断中的应用｡ 【结果】 18个STR基因座基因型频率分布均符合Hardy-Weinberg平衡(P > 0.05)｡18个STR基因座的杂合度在0.630 ~ 0.942之间,累积个体识别力大于0.9999999999,基因型分布与中国其它地区汉族人群存在差异｡与15-STR鉴定系统相比,18-STR鉴定系统更有利于二联体亲缘关系的认定及可疑突变的判断｡在胎儿亲子鉴定中偶然发现的1例21三体胎儿在D21S11､PentaD两个STR基因座出现了特征性峰型｡ 【结论】 18个STR基因座在浙江汉族人群中呈高度多态性,对法医学亲子关系的认定或排除具有较大价值,部分STR基因座的检测也有助于非整倍染色体的产前诊断｡     

宁波地区汉族群体中9个STR位点的遗传多态性

目的：调查宁波地区汉族群体9个STR位点即D2S1358、vWA、FGA、D8S1179、D21S11、D18S51、D5S818、D13S317和D7S820的遗传多态性分布。方法：用荧光标记的PCR技术对266名无缘关系的宁波地区汉族个体进行9个STR位点的基因分型。结果：D2S1358、vWA、FGA、D8S1179、D21S11、D18S51、D5S818、D13S317和D7S820在宁波地区汉族群体中分别检测到8、9、13、8、15、14、10、8、8个等位片段，多态性分布符合Hardy-Weinberg平衡定律；杂合度0.73-0.86，多态信息含量0.69-0.85，累积个体识别能力0.99999999999，累积非父排除概率0.99987。结论：上述9个STR位点有较高的多态信息量，可应用于宁波汉族群体的个体识别和亲子鉴定等。     

APPLICATION OF LORNOXICAM TO PATIENT-CONTROLLED ANALGESIA IN PATIENTS UNDERGOING ABDOMINAL SURGERIES

FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…     

Dr.Zhang Ren''''s Experience in the Acupuncture Treatment of Different Diseases with the Same Therapeutic Principle

Dr.Zhang Ren,the chief physician,is the chairman of Shanghai Acupuncture and Moxibustion Association.Having been engaged in medicine for about 40 years,he is experienced in treating various intractable diseases.In his long years of clinical practice,he advocates taking the TCM differentiation as the basis to seek for the acupuncture method for treatment of modern intractable diseases.The author of this essay had the fortune to follow Dr.Zhang in study.The following is a summary of Dr.Zhang's experience in the acupuncture treatment for different intractable diseases with the same therapeutic principle.     

Luo Lingjie''''s Experience in Treating Chronic Nephropathy

In treating chronic nephropathy,Luo Lingjie,a chief physician,pays attention to regulating the balance between yin and yang,treating infection if present,and removing pathogenic factors.He prescribes gentle drugs and uses carefully strongly warming-tonifying ones,emphasizes the importance of persuading the patient to persist in treatment with medication and nurse one's health for recuperation,and is good at combined use of TCM and western medicine therapy and brings the merits of various therapies into full play,with obvious theraoeutic effects.     

Acupuncture Combined with Spinal Tui Na for Treatment of Primary Dysmenorrhea in 30 Cases

Objective: To observe the therapeutic effects in acupunture treatment of primary dysmenorrhea combined with spinal Tui Na, and study its mechanism. Methods: Thirty cases of the treatment group were treated by acupuncture combined with spinal Tui Na, and thirty cases in the control group were treated by routine acupuncture. Results: The total effective rate was 93.3% in the treatment group, and 73.3% in the control group, with a significant difference between the two groups (P<0.05). Conclusions: Acupuncture combined with spinal Tui Na has good prospects for treatment of primary dysmenorrhea.     

猪肺磷脂注射液联合经鼻持续气道正压通气对呼吸衰竭早产儿的临床疗效及肌酸激酶同工酶活性的影响

目的 探讨猪肺磷脂注射液联合经鼻持续气道正压通气(NCPAP)对呼吸衰竭早产儿的临床疗效及肌酸激酶同工酶活性(CK-MB)的影响.方法 选取呼吸衰竭早产儿80例,分为观察组和对照组各40例.对照组采用NCPAP给氧治疗,观察组给予NCPAP给氧联合猪肺磷脂气管内给药.观察两组患儿治疗前及治疗12h、24 h后PaO2、PaCO2、血氧饱和度(SaO2)、pH的变化情况,检测治疗前及治疗5d后血清CK-MB水平;评估两组患儿的临床治疗效果.结果 两组患儿PaO2、PaCO2、SaO2、pH比较,差异均有统计学意义(P＜0.05),其中观察组治疗后的PaO2、SaO2、pH均高于对照组,PaCO2则低于对照组.两组的PaO2、SaO2、pH均随观察时间延长而升高(P＜0.05),PaCO2均随观察时间的延长而降低(P＜0.05).观察组治疗有效率为87.5％,显著高于对照组的70.0％ (P ＜0.05).治疗5d后两组患儿血清CK-MB水平均较前降低(P＜0.05),且观察组明显低于对照组(P＜0.05).结论 猪肺磷脂注射液气管内给药联合NCPAP可以显著降低呼吸衰竭早产儿CK-MB的含量,提高治疗有效率,起到很好的呼吸循环支持作用.     

Acupuncture Treatment of Vomiting

CASE HISTORY A female patient, 46 years old, head of the foreign affairs department of a certain university in Beijing, paid her first visit on October 9, 2006, with the chief complaint of vomiting for one month. She got vomiting after meals in early September. Before that, she had discomfortable sensation in the stomach due to angry with others, but she didn't pay much attention. Later, it developed into vomiting after eating. After the vomiting, the discomfort would be relieved, but with slight hypodynamia. She was once diagnosed as having 'neurogenic vomiting'. Having taken some western and Chinese drugs, the above symptoms were a little bit improved, but she would have nausea upon eating and with regurgitation. Because of the fear for vomiting, she did not dare to have food intake, with body weight reduction of 6 kilos in one month.     

Qiu Baoguo''''s Experience in Treating Consumptive Syndromes after Radio-Chemotherapies

Radiotherapy and chemotherapy are the important modern medical therapies for malignant tumors,yet they can also bring about serious local and systemic toxic side reactions so to decrease the patient;'s life quality,manifested by a series of consumptive symptoms.Having engaged in the combined work of Chinese and western medicine for nearly 50 years,the research fellow Qiu Baoguo in Henan Provincial Academy of TCM has developed his unique views on the TCM study of consumptive syndromes.The author of this essay had once the fortune tO follow Dr.Qiu in clinic,and specially would like to introduce in the following Dr.Qiu's experience in treating consumptive syndromes after radio-chemotherapies for patients with malignant tumor.     

Insomnia Due to Deficiency of Both the Heart and Spleen Treated by Acupuncture-Moxibustion and Chinese Tuina

OBJECTIVE: To observe therapeutic effects of the comprehensive therapy of acupuncture-moxibustion and Chinese Tuina for treatment of insomnia due to deficiency of both the heart and spleen. METHODS: 92 cases were divided randomly into the treatment group (treated by acupuncture-moxibustion and Chinese Tuina) and the control group (treated by acupuncture-moxibustion). RESULTS: The therapeutic effect of the treatment group was obviously superior to that of the control group (the CHI2 test showed P < 0.01). CONCLUSIONS: The comprehensive therapy of acupuncture-moxibustion and Chinese Tuina can give marked therapeutic effects for treatment of insomnia due to deficiency of both the heart and spleen.     

Survey and practice of reporting quality of randomized controlled clinical trials on traditional Chinese medicine

Evidence obtained from randomized controlled trials （RCTs） has been generally accepted as the gold standard in the evaluation of clinical effectiveness. Readers need to understand the trial design, implementation, results, analysis and interpretation, so as to fully Jnderstand the results of RCTs. Thus, the investigators of RCTs have to report these items in a complete, accurate and clear manner. Since 1998, we have conducted several evaluations on the reporting quality of RCTs published in Chinese journals on traditional Chinese medicine （TCM） and results have shown that there is an urgent need for higher quality RCTs on TCM.