观察福建地区亲权鉴定中常用STR基因座突变现象，分析福建汉族人群遗传突变率和一些常用位点的突变情况。在3702例亲权关系鉴定的案例中，观察到79例发生基因突变， D8S1179、D21S11、D7S820等15个位点发生突变。

The present thesis investigates the common STR gene mutation phenomenon in paternity testing ca -ses in Fujian Province .It also describes the feature of genetic mutation and mutation of some common locus in Fu-jian Han population .A total of 3702 paternity testing cases were screened , 79 cases out of which mutated gene and locus mutations were observed in 15 locus, such as D8S1179 loci, D21S11 loci and D7S820 loci.

应用荧光标记微卫星技术对凡纳滨对虾(Litopenaeus vannamei)家系进行亲权鉴定。挑选14个多态信息含量较高的微卫星位点,以人工选育建立的凡纳滨对虾5个全同胞家系为试验材料,采用Cervus 3.0进行亲权分析,并根据家系内个体间的遗传距离进行UPGMA聚类分析。结果表明,14个微卫星位点的平均等位基因数为6,平均多态信息含量为0.6896,平均期望杂合度为0.7309,平均观测杂合度为0.7661,第一亲本、第二亲本和双亲的累计排除率分别为0.99721733、0.99996559和0.99999997;进一步模拟分析表明,要达到亲权鉴定的要求,在双亲性别已知时至少需要5个微卫星位点,双亲性别未知时至少需要6个微卫星位点;模拟分析及试验验证所选用的14个微卫星位点最多可以鉴定1 954个已知性别的亲本或1 203个未知性别的亲本。所选用的14个微卫星标记可在生产及科研试验中用于获取凡纳滨对虾系谱信息。

Fourteen microsatellite loci with high polymorphism were selected for parentage assignment in five full-sib families of selected white shrimp (Litopenaeus vannamei)by Cervus 3.0.The UPGMA dendrogram of the five families was constructed according to the genetic distance among 87 individuals.The results showed that the aver-age number of alleles per locus,mean polymorphism information content (PIC ),mean observed heterozygosity, and mean expected heterozygosity were 6,0.6896,0.7309 and 0.7661,respectively.The combined exclusion probability of the first parent (CEP-1P),the second parent (CEP-2P)and a parent pair (CEP-PP)were 0.99721733,0.99996559 and 0.99999997,respectively.Further simulation based on allele frequencies suggested that at least five microsatellite loci were needed to obtain accurate results of paternity test when the sex of both par-ents were known,and at least six microsatellite loci when the sex of both parents were unknown.The simulation analysis and experimental verifi

目的探讨利用血浆中游离DNA进行短串联重复序列(short tandem repeat,STR)分型检测,解决法医学个体识别和亲权鉴定问题的可行性.方法采集36例无关健康个体EDTA-Na2抗凝血样,分离血浆,采用经典酚-氯仿法分别处理血浆和血细胞,对提取的DNA进行15个STR基因座常规PCR扩增和荧光标记复合扩增,采用聚丙烯酰胺凝胶电泳和毛细管电泳检测2种STR分型方法进行检测.结果常规PCR扩增银染检测和荧光标记复合扩增毛细管电泳检测两种STR分型方法的结果表明,同一个体的血浆游离DNA和血细胞DNA STR分型一致,且分型效果接近.结论血浆游离DNA可作为一种有效的生物学样本进行STR分型检测,应用于法医个体识别和亲权鉴定.

Objective The purpose of this study was to investigate the feasibility of short tandem repeat(STR) genotyping of cell free DNA in plasma for individual identification and paternity testing. Methods EDTA-Na2 DNA anti-coagulant blood samples were collected from 36 unrelated healthy volunteers,and both DNA in leukocytes and cell free DNA in plasma were extracted respectively using phenol-chloroform method. Target DNA in blood cells and plasma were amplified using regular STR typing and fluorescent multiplex STR assay separately,accordingly,the PCR products were analyzed by polyacrylamide gel electrophoresis and capillary electrophoresis. Results Using either normal PCR-STR or fluorescent multiplex STR assay,the consistent STR genotyping results were detected with similar efficiency for cell DNA and plasma DNA samples from the same individual. Conclusion Cell free DNA in plasma samples can be used as useful biological samples for STR genotyping,which can be applied to individual identifica

目的 对亲权鉴定中TH01基因座丢失现象进行分析,以确定基因型.方法 应用两套短串联重复序列基因座分型系统对TH01基因座异常分型进行重复验证,并设计TH01单基因座引物进行基因分型,产物经克隆测序分析.结果 在TH01基因座检出稀有等位基因5.2,该稀有基因型在PowerPlex 21分型系统中无法检出,呈现基因座丢失现象,而在Identifiler分型系统中可以准确分型.结论 基因变异可导致稀有等位基因的出现以及基因座丢失现象的产生,严重影响鉴定结果的准确判断,实验室应具备多种检测手段对基因座丢失现象进行分析,以避免错判发生.

Objective To analyze allele dropout at TH01 locus in paternity testing in order to determine the accurate genotype.Methods To use a two STR loci genotyping system to verify an abnormal genotype for the TH01 locus with PCR using specific primers,cloning and DNA sequencing.Results A rare allele at TH01 locus named 5.2,which was undetectable with PowerPlex 21 system,was detected with an Identifiler system.Conclusion Genetic variations may result in rare alleles and loci loss.To avoid misjudgment,laboratories shall have a variety of methods for detecting loci loss.

目的调查福建福州地区汉族群体遗传15个STR基因座多态性参数，同时评估AmpFlmSTR IdentifilerTM体系应用于该地区汉族人群进行法医学个体识别及亲子鉴定的价值。方法应用AmpFlmSTR IdentifilerTM体系荧光标记复合扩增系统检测350名福建福州地区汉族无关个体15个STR基因座的多态性，统计计算群体遗传学参数。结果15个STR基因座的基因型分布均符合Hardy—Weinberg平衡（P〉0．05），发现4个稀有等位基因。15个STR遗传标记均具有高度多态性，杂合度0．12～0．405，匹配概率0．032～0．225，个体识别力0．775～0．968，多态性信息含量0．55—0．86，非父排除率0．285～0．761。结论15个STR基因座在福建福州地区有较高的多态性。通过这份样本实验和等位基因频率总结，得到了福建福州人群更多法医学亲权鉴定和个人识别等位基因多样性的客观数据。

Objective To investigate the genetic polymorphism and its Forensic application of 15 STR loci from AmpFlmSTR IdentifilerTM system in personal identification and paternity testing in Han race population in Fuzhou Fujian. Methods Allele frequencies for 15 STR loci found in AmpFlmSTR IdentifilerTM kit were determined in a sample of 350 unrelated Chinese individuals in Fuzhou Fujian.Population genetics parameter for Forensic using were calculated. Results No deviations of the observed allele frequency from Hardy-Weinberg equilibrium expectations were found for Chi-square test (P>0.05).4 off ladder alleles (at 15 STR loci) were found.All 15 loci in AmpFlmSTR IdentifilerTM system show highly polymorphic, Observed heterozygosity(Ho) varies between 0.12and 0.405, matching probability between 0.032 and 0.225, power of discrimination between 0.775and 0.968, polymorphic information content (PIC) varies between 0.55 and 0.86, power of exclution between 0.285 and 0.761. Conclusion All 15 loci in Am