Bone marrow transplant relapse with loss of an allele

BACKGROUND: Detection of the extent of chimerism after transplantation is an important method for monitoring the engraftment of donor stem cells or diagnosing relapse. METHODS: The AmpFlSTR Identifiler amplification kit (Applied Biosystem, CA) was used to perform STR-PCR for the study of engraftment. RESULTS: At 6 months post-transplantation, the peripheral blood genotype shows a mixture of donor and recipient alleles, consistent with disease relapse. Interestingly, the D18S51 locus shows 2 donor alleles and only 1 recipient allele, the other recipient allele is missing. To further confirm chromosome loss, we used the D18S53 and D18S1129 in the ABI PRISM Linkage Mapping Sets. The D18S53 locus showed the recipient allele (179 bp) and shared allele (171 bp). Interestingly, the D18S1129 locus showed almost only 1 recipient allele (243 bp); the other recipient allele and shared allele (251 bp) is missing. CONCLUSION: The case illustrates that chromosome loss in tumor cells during the course of disease may cause corresponding loss of an STR locus. This circumstance is a potential source of error in the interpretation of engraftment analysis, especially if only one informative allele is used to monitor engraftment.     

适合移植后嵌合物定量分析的信息STR位点谱的建立及其应用

本研究选取8个STR位点作为嵌合物定量分析的信息STR位点谱,评估其作为异基因造血干细胞移植（HSCT）后移植物嵌合状态的定量监控指标的作用。采集15对移植供受者血样,提取DNA,分别合成标记D3S3045、D4S2366、D4S2639、D5S818、D13S317、D18S1002、D20S481、D22S689的引物,建立PCR扩增体系,在ABI3100仪上检测这些位点的扩增片段．筛选得到理想的信息位点;制备梯度供者／受者DNA混合品和移植后不同日期采集的标本,进行信息位点的检测;获取峰高或峰面积进行移植嵌舍率的计算。结果显示,根据梯度混合DNA的结果获得标准曲线,计算得到的嵌合率和配制浓度中的嵌合比例基本一致;用峰高和峰面积同时计算,两者基本一致;成功获得了15例移植后病人的嵌舍状态变化数据,并帮助诊断了1例复发病人。结论：本研究建立的信息STR位点谱及检测方法,可以较准确地定量监控嵌合状态,成功用于临床干细胞移植工作,与商品化试剂相比,更便宜,在使用上更灵活。     

Feasibility of a cost-effective approach to evaluate short tandem repeat markers suitable for chimerism follow-up.

BACKGROUND: Precise chimerism monitoring is important for the prediction of the success of allogeneic bone marrow transplantation (BMT). Most of the current procedures employed for chimerism follow-up with short tandem repeat (STR) markers are either time-consuming, labor-intensive, or use expensive assays, making it burdensome to perform large-scale studies of transplanted patients. AIM: To set-up a simple nonradioactive method to investigate a set of STR markers that could be used in the evaluation of chimerism status after allogeneic BMT. METHOD: Six dinucleotide STRs (D2S123, D5S107, CRTL1, D7S500, D11S1356, and TP53) were analyzed by touchdown (TD)-PCR followed by medium size non-denaturing polyacrylamide gel electrophoresis and silver staining. The sensitivity of the approach was evaluated by dilution competition assays. Peripheral blood samples were taken from a group of 50 healthy Argentinean donors, two transplanted patients, and their respective bone marrow donors. Buccal mucosa samples were also obtained from the BMT recipients. RESULTS: Four markers, D2S123, D7S500, D11S1356, and TP53, presented the highest heterozygosities (0.67-0.88) under our experimental system. A sensitivity of 0.8-1.6% for chimerism detection was consistently found for the different STR. The usefulness of these STR in chimerism analysis was illustrated with the screening of related siblings analyzing two transplanted patients with persistent mixed chimerism, which were previously studied by fluorescence in situ hybridization (FISH). Similar proportions of mixed chimerism were obtained with STR analysis compared with those estimated by FISH. DISCUSSION: To our knowledge, this was the first study of mixed chimerism using TD-PCR to achieve a highly specific STR amplification. This approach allows simple and accurate chimerism quantification because it avoids slippage of Taq polymerase on repeat stretches and prevents the differential amplification of the shorter allele. STR heterozygosities and the high level of sensitivity of this method demonstrated that this approach is not only very informative in this population, but is also rapid (taking less than 14 hours) and cost-efficient. CONCLUSION: The data confirms that this method is a useful tool applicable to routine large-scale STR genotyping and mixed chimerism analysis in low-complexity laboratories worldwide.     

检测STR多态位点作为非性别依赖胎儿标记的探讨

本研究探讨检测孕妇血浆中游离胎儿DNA短串联重复序列（short tandem repeat,STR）多态位点作为内对照进行遗传病产前基因诊断的可行性。用QIAamp DNA Kit抽提孕妇血浆DNA,应用AmpFlSTR profiler试剂盒扩增9个（D3S1358,VWA,FGA,D5S818,D13S317,D7S820,D8S1179,D21S11,D18S51）具有高度多态性的STR位点,以多重荧光PCR方法对不同孕期的36份孕妇血浆标本中胎儿DNA进行STR等位基因扩增,同时扩增孕妇及丈夫外周血来源DNA的STR位点。PCR产物经ABI Prism 377序列分析仪电泳后,用基因扫描软件进行分析,以在孕妇血浆中胎儿DNA检出父源性STR等位基因来确认胎儿DNA存在。结果表明：其中孕早期4份（4/6）、孕中期19份（19/20）、孕晚期9份（9/10）样本中检出胎儿父源性等位基因,即胎儿DNA。4份样本未检到胎儿DNA。结论：应用多重荧光PCR方法对孕妇血浆中胎儿DNA进行STR多态位点的复合扩增,可获得男性及女性胎儿性别DNA信息,作为非性别依赖胎儿标记,从而用于无创伤性产前诊断。     

A dispermic chimera was identified in a healthy man with mixed field agglutination reaction in ABO blood grouping and mosaic 46, XY/46, XX karyotype

BackgroundChimerism is the presence of two or more genetically distinct cell populations in one organism. Here, we reported the identification of dispermic chimerism in a 25-year-old male.MethodsBlood grouping was performed with standard gel centrifugation test cards. ABO and HLA-A, -B, -C, -DRB1 and -DQB1 loci genotyping was determined with PCR sequence-based typing. A quantitative analysis of dual red cells populations was measured by flow cytometer. The karyotype was analyzed by G-banded chromosomes. Short tandem repeat (STR) analysis was performed on blood, buccal mucosal and hair shafts samples.ResultsA mixed-field agglutination with anti-B antibody was observed with gel centrifugation tests, which showed a double populations of O and B groups RBCs. Two groups RBCs were also observed by flow cytometer with nearly 90% O group cells and 10% B group cells. The normal O01, O02, B101 alleles were identified in DNA sample of the proband. STR analysis revealed three alleles for D8S1179, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, TPOX and D18S51 loci. HLA-DRB1 and -DQB1 loci had three alleles and a karyotypic mosaic was found with 60% 46, XY and 40% 46, XX karyotype in the proband. In all studies, the third allele was attributable to a dual paternal contribution.ConclusionA individual with dispermic chimerism was identified, which would generate by fertilization of an oocyte and the corresponding second polar body by two different sperms.     

微卫星DNA与慢性阻塞性肺疾病易感性的研究

目的 探讨微卫星DNA与慢性阻塞性肺疾病（COPD）易感性的关系.方法 将64例COPD患者作为COPD组,以100例健康者作为对照组.采用聚合酶链反应（PCR）-短串联重复序列（STR）复合扩增技术对受检者的D18S51、D8S1179、D21S11、D7S820、CSF1PO、D3S1358、D5S818、D13S317、D16S539、D2S1338、D19S433、VWA、D12S391、D6S1043基因位点的遗传多态性进行分析.结果 COPD组患者D18S51-19、D7S820-9及D6S1043-17的阳性率分别为18.75%、25.00%及20.31%,均高于对照组,差异有统计学意义（P＜0.05）.两组其他等位基因检出率的差异无统计学意义（P〉0.05）.结论 D18S51-19、D7S820-9及D6S1043-17基因位点附近可能存在COPD的易感基因.     

广东汉族人群D18S51基因座等位基因分型现象分析

目的分析广东汉族人群D18S51基因座等位基因的特殊分型现象。方法采用Chelex-100法提取DNA,采用Powerplex■21体系对广东汉族9 419例研究对象进行PCR复合扩增,采用毛细管电泳分析STR基因座的等位基因分型,采用Identifiler^TM体系验证其特殊分型。结果发现D18S51基因座存在三带型等位基因和off-ladder(OL)等位基因2种特殊分型,基因型频率分别为0.010 6%和0.021 2%。OL等位基因命名为28,由母亲遗传给孩子。不同检测体系证实了特殊分型发生的真实性。结论对于STR基因座的特殊分型,应采用不同试剂盒验证,正确命名OL等位基因及计算三带型等位基因的亲权指数。     

广东省佛山地区汉族人群15个STR基因座的遗传多态性

目的对广东省佛山地区汉族人群无血缘关系的个体的15个STR基因座（D8S1179、D21S11、D7S820、CSFIPO、D3S1358、D5S818、D13S317、D16S539、D2S1338、D19S433、vWA、D12S391、D18S51、D6S1043、FGA）的遗传多态性进行研究。方法采用Chelex-100法应用荧光标记复合扩增系统（AmpFISTR Sinofiler）和ABI 3100遗传分析仪对250例广东省佛山地区汉族无血缘关系的个体血样进行DNA多态性分析,并统计各基因座的群体遗传学参数。结果在佛山地区汉族人群中,15个STR基因座的基因型分布经x2检验符合Hard-Weinberg平衡（P〉0.05）。杂合度（H）值在0.727～0.880之间,匹配概率（pM）值在0.033～0.130之间,三联体非父排除率（PE）值在0.471～0.754之间,个体识别能力（PD）值在0.870～0.967之间,多态性信息含量（PIC）值在0.68～0.86之间;15个基因座累计个人识别概率（TPD）值为0.999999999999999999245。结论 15个STR基因座在广东省佛山地区汉族人群中有较高的多态性,AmpFISTR Sinofiler复合扩增系统对佛山汉族人群的身份识别和亲权鉴定以及DNA数据库建立具有较高的应用价值。     

STR-PCR分析嵌合体在同种异基因造血干细胞移植中的应用

利用荧光标记的多重PCR扩增短串联重复序列（STR-PCR）结合毛细管电泳检测供者细胞嵌合率（DC）,以探讨该方法的连续检测对异基因造血干细胞移植（allo-HSCT）后转归的预警作用,采集27例清髓性外周血干细胞移植患者移植前、移植后不同时段的外周血或骨髓,DNA样本用Profiler Plus和Cofiler Plus商品化试剂盒扩增后,用ABI310遗传分析仪进行毛细管电泳,确定基因位点及峰面积,根据基因型的差异选择嵌合率计算公式。结果表明：两种试剂盒测得的DC嵌合率一致;在27对中能区别出供受差别的STR位点,Profiler Plus为6.3（4-9）个,Cofiler Plus为4.9（2-6）个。26例患者均在移植后28天出现供者细胞,1例患者未出现供者细胞。14例患者DC100%,均获得持久植入,至今仍无白血病生存;另有9例患者出现不稳定混合嵌合（MC）状态（DC为0%-90.2%）,其中5例为血液学复发。27例病人中有6例死亡。上述5例复发患者均在出现临床症状前发生DC量下降;供者细胞完全嵌合组移植物抗宿主病（GVHD）的发生率高于MC组。结论：动态检测DC可用于移植动力学研究,对移植物早期植入或被排斥、疾病复发以及GVHD的发生均有预警作用,对早期实施临床干预治疗有重要的指导意义。     

MiniSTR技术应用于孕妇血浆中胎儿游离DNA检测的研究

目的研究利用母血中胎儿游离DNA检测STR的方法。方法采集9名11—27孕周的孕妇抗凝血样并分离出血桨,提取血浆总DNA,利用ABI MiniFilerTM系统复合扩增D13S317、D7S820、D2S1338、D21S11、D16S539、D18S51、CSFIPO、FGA等8个常染色体miniSTR基因座和性别Amelogenin基因座,扩增产物经ABI 3100型基因测序仪作基因扫描检测,用GeneMapper ID 3.2软件分析结果。结果9例孕妇血浆样本中,均检出了父源性胎儿STR等位基因,D13S317等8个常染色体STR基因座中,平均检出胎儿特异等位基因3.1个/例。在性别Amelogenin基因座,Y等位基因检出的案例有5例,并且按ABI MiniFilerTM试剂盒的扩增条件,Amelogenin Y等位基因的荧光信号峰高均>50 RFU,平均占Amelogenin X等位基因峰高的8.45%;未检出Amelogenin Y等位基因的有4例,性别Amelogenin基因座的结果与出生后证实的胎儿性别相一致。结论MiniSTR技术适合于孕妇血浆中胎儿游离DNA的检测,在产前分子基因诊断中具有广泛的应用前景。     

Evaluation of chimerism in DNA samples by PCR amplification of D1S80 with detection by capillary electrophoresis.

BACKGROUND: Analysis of the relative amounts of donor and recipient DNA in bone marrow after bone marrow transplantation is frequently used to determine the status of the transplant. We studied the performance of an assay to quantify chimerism based on amplification of the D1S80 variable number tandem repeat marker by PCR with detection of PCR products by capillary electrophoresis (CE). METHODS AND RESULTS: Samples from potential bone marrow donors and recipients were analyzed separately and in mixtures to simulate various degrees of chimerism from 10% to 90% and subjected to PCR/CE analysis. There was excellent agreement between the measured and known relative proportions of DNA components in chimeric samples. The lower limit of sensitivity for detection of chimerism was 1%; between-runs coefficients of variation were <5%. CONCLUSIONS: Amplification of the D1S80 minisatellite by PCR with CE detection is a reliable method for determination of the relative contribution of different DNAs in mixed samples. This method is fast, quantitative, and extremely reproducible.     

嵌合体的动态定量检测在异基因造血干细胞移植中的应用

目的　建立荧光标记的多重PCR扩增短串联重复序列 (STR PCR)结合毛细管电泳 ,定量检测供体细胞 (DC)嵌合率的方法 ,并探讨该方法的连续定量检测对异基因造血干细胞移植 (allo HSCT)后转归的预警作用。方法　采集 31例接受骨髓移植 (BMT)或非清髓外周血干细胞移植 (NST)患者移植前、移植后不同时段的外周血或骨髓。DNA样本用ProfilerPlus商品化试剂盒扩增后 ,用ABI 310遗传分析仪进行毛细管电泳 ,确定基因位点及峰面积 ,根据供受体基因型的差异选择嵌合率计算公式。结果　 31例患者中 15例 (48.4 % )为性别相合移植 ,只能通过STR PCR进行嵌合体的定量分析 ;性别不合移植患者用STR PCR和荧光原位杂交两种方法定量测得的DC嵌合率一致 ;31对供受体中能区别出供受差别的STR位点有 6 .7(2～ 10 )个 ,所有患者均在移植后 7天 ( 7天 )出现供体来源的细胞 ,BMT组 7天、 14天和 1个月DC中位数均明显低于NST组 ,而在移植中后期无显著性差异。 2 1天时BMT和NST患者均达稳定嵌合 ,DC在 92 %以上 ;中位随访 17(3.5～ 2 9.0 )个月 ,2 6例患者DC≥90 % ,均获得持久植入 ,至今均为无白血病生存。另有 5例患者出现不稳定混合嵌合 (MC)状态 (DC为2 7.3%～ 6 2 .7% ) ,其中 4例复发 ,1例出现移植物被排斥。上述 5例患者均     

中国宁夏回族人群15个人类短串联重复序列位点的遗传多态性研究

目的研究宁夏回族人群15个人类短串联重复序列位点(STR)D3S1358、THO1、D21S11、D18S51、vWA、CSF1PO、D8S1179、TPOX、FGA、D5S818、D13S317、D7S820、D16S539、D19S433、D2S1338的遗传多态性。方法通过STR复合扩增、基因扫描、基因分型调查了102名回族无关个体15个STR位点等位基因分布情况。结果15个STR位点均符合Hardy-W e inberg平衡,共检出150个STR等位基因,其频率分布在0.004 9~0.553 9之间,杂合度(H)为0.625 5~0.865 4,个体识别力(DP)为0.834 7~0.960 6,非父排除率(EPP)为0.381 2~0.720 4,多态信息含量(PIC)为0.572 2~0.845 6。结论此研究为进一步研究中国回族STR遗传结构奠定了基础,在人类学、法医学等领域也有重要的应用价值。     

Dispermic chimerism identified during blood group determination and HLA typing

BACKGROUND: Chimerism is the presence of two or more genetically distinct cell populations in one organism. STUDY DESIGN AND METHODS: We report the identification of dispermic chimerism in a 19-year-old female volunteer blood donor. During routine ABO blood grouping strong reactions of the blood donors red blood cells (RBCs) with anti-A reagents and mixed-field reactions with anti-B reagents were observed, while serum-testing showed the absence of anti-A and anti-B antibodies. AB0 blood group genotyping, HLA-typing and microsatellite analysis were performed using blood-samples, buccal mucosa and fibroblasts of the blood-donor and blood-samples of her parents. RESULTS: AB0 blood group genotyping showed three ABO blood group alleles (0(1), A(2) and B) in the DNA-samples of the blood-donor. The evidence of chimerism was supported by the detection of three alleles for the HLA-A and HLA-DRB1 loci. Microsatellite analysis with ten markers revealed three alleles for loci D7S821 and D19S412. All studies carried out, the third allele was always of paternal origin. CONCLISION: The results suggested a case of a human dispermic chimerism. Our proposed explanation for the development of chimerism in the reported case is the fertilization of an oocyte and the corresponding second polar body by two different sperms.     

Comparison of allelic ratios from paired blood and paraffin-embedded normal tissue for use in a polymerase chain reaction to assess loss of heterozygosity.

BACKGROUND: One method to assess loss of heterozygosity (LOH) of various genes is the amplification of DNA from neoplastic tissue by using microsatellite markers. LOH can best be considered on a quantitative basis as a comparison of allelic ratios of neoplastic tissue to that of the normal control. We will illustrate through quantitative methods the importance of using the appropriate controls when determining allelic loss. METHODS AND RESULTS: DNA extracted from 28 paired blood and formalin-fixed, paraffin-embedded normal mucosal tissue was amplified using the DP1 microsatellite marker, consisting of a variable number of CA repeats. This marker is located within the D5S346 (DP1) region on chromosome 5 and is linked to the adenomatous polyposis coli gene. Allelic ratios were calculated after scanning autoradiographs on a densitometer. Ratio values approaching 1 were observed when the two alleles were close in molecular weight, whereas ratios less than 1 were detected when the two alleles had very different molecular weights. This discrepancy was more pronounced in paraffin-embedded tissue than with blood samples. CONCLUSION: For LOH amplification assays, it is best to use normal control samples that are of the same tissue source as the neoplastic sample being analyzed. When assessing LOH in neoplastic tissue, a quantitative value rather than visual assessment of the alleles should be considered. The values may be normalized by dividing the ratio of the two tumor alleles by the ratio of the two normal alleles.     

Validation of a "new" short tandem repeat (STR) fluorescent multiplex system and report of population genetic data

The Humantype Chimera PCR Amplification Kit contains 12 polymorphic loci (ACTBP2 (= SE33), D18S51, D4S2366, D6S474, D8S1132, D12S391, D2S1360, D3S1744, D5S2500, D7S1517, D10S2325, D21S2055), of which the latter 10 loci have not been used extensively for human identity testing. The sex determinant locus amelogenin is also included in the kit. Amplification was successful on a variety of thermal cyclers and the amplicons could be analyzed on both the ABI PRISM 310 and 3100 Genetic Analyzers. Complete genotyping results from single source samples were possible between 0.25 and 2 ng of DNA template. Heterozygote imbalance (< 60% peak height balance) caused by stochastic effects was observed at a rate of around 5%. No deviations from the Hardy-Weinberg equilibrium were observed. Thus, there were no detectable significant deviations from the expected genetic independence of alleles.     

用荧光标记短串连重复复合扩增技术监测骨髓移植存活

目的探讨荧光标记短串联重复(STR)复合扩增技术监测骨髓移植存活的价值,为观测骨髓移植疗效提供可靠方法。方法用荧光标记引物对D12S391、D18S865、D20S161这3个STR位点进行PCR复合扩增,用ABI310遗传分析仪对扩增后产物进行分离和分型,并对56例移植后病人做移植物存活鉴定检测。结果有52例移植后病人的3个STR位点的分型完全表现供者源性,与受者移植前不同;4例表现为供/受体干细胞混合嵌合状态。结论荧光标记STR复合扩增体系特异性强,成本低,个体识别力高,检测灵敏、快速、简便,结合临床判断可作为骨髓移植效果评定的有力指标。     

Real-time biallelic polymorphism-polymerase chain reaction for chimerism monitoring of hematopoietic stem cell transplantation relapsed patients

BackgroundAn accurate analysis of chimerism kinetics permits early detection of hematopoietic stem cell transplantation (HSCT) in patients with high risks of graft-versus-host disease or those liable to relapse. Although short tandem repeats-PCR (STR-PCR) is the golden standard for quantitative chimerism analysis in most of the clinical laboratories, it has a relatively low sensitivity of 5% and the detection of low percentage in mixed chimerism is usually delayed. In this study, we developed a real-time PCR for chimerism analysis based on the informative biallelic polymorphisms (BP).MethodsThe allele frequencies of 19 selective biallelic polymorphic markers were analyzed using the genomic DNA from 100 healthy Taiwanese volunteers. The informative biallelic polymorphic markers with high discrimination power in the Taiwanese population were identified. The TaqMan probe-based real-time BP-PCR for amplification of the informative loci was designed and the detection sensitivity was determined. Clinical application of real-time BP-PCR in chimerism monitoring was evaluated and was compared with the conventional STR-PCR by analyzing the DNA samples obtained at different time points post-HSCT from 4 relapsed and 10 non-relapsed patients.ResultsAllele distribution analysis revealed that the loci of S01a, S03, S04a, S05b, S06, S07b, S08b, S09b, S10b and S11a had a relatively high discrimination power and were the informative BP for chimerism monitoring in the Taiwanese population. Real-time BP-PCRs for these 10 BP loci were set up with the detection sensitivity equivalent to 0.003–0.006%. Real-time BP-PCR of the 4 HSCT patients revealed the presence of recipient-specific DNA at early time point than STR-PCR for 3 of the patients, whereas real-time BP-PCR was as effective as STR-PCR in uncovering the sign of relapse for one of the patients. In addition, the baseline value for the patients with no sign of relapse was 0.127 ± 0.193% of recipient DNA.ConclusionWe conclude that real-time BP-PCR is a sensitive and reliable method for chimerism monitoring and is superior to the STR-PCR in identifying patients who are at high risk for relapse after transplantation.     

Effective molecular RHD typing strategy for blood donations

BACKGROUND: More than 50 weak D alleles and numerous partial D alleles have been described to date that can be identified by molecular methods as polymerase chain reaction (PCR) and DNA sequencing of the RHD gene. A real time-based RHD typing scheme was developed and tested during an 8-month period. STUDY DESIGN AND METHODS: A total of 53,347 blood donors and patients were tested with standardized immunohematologic methods. A total of 201 DNA samples with weak D reactions underwent molecular characterization by weak D real-time PCR, exon-screening real-time PCR, and nucleotide sequencing of RHD Exons 1 through 10. A total of 2,427 samples with D- phenotype were tested for the presence of RHD markers. RESULTS: Molecular typing of 201 samples with weak D expression revealed 15 different known aberrant alleles as well as one new weak D type dubbed weak D Type 49. Approximately 60 percent of the alleles were determined as weak D Types 1 through 3 and detected by only one amplification run. Weak D Type 1 represented the most frequent allele (n = 72). Three samples with D- phenotype showed amplification of RHD-specific markers. Sequence-based typing (SBT) of these samples revealed a DEL allele, RHD(IVS3+1G>A), in two samples and one weak D Type 4.3. CONCLUSIONS: The presented scheme for RHD genotyping of weak D red blood cell units was reliable for detection of aberrant alleles. Testing of D- blood samples as quality control seems to overcome limitations of standard serology by detection of samples with weak D or DEL phenotype.     

中国辽宁锡伯族群体3个短串联重复位点的遗传多态性分析

背景:对常染色体STR基因座的多态性的研究可为法医学亲权鉴定提供基础数据.目的:探索辽宁锡伯族D16S539,THO1,D13S317 3个常染色体基因座的遗传多态性,建立锡伯族群体的遗传学基础数据.方法:采集辽宁省沈阳市新城子区黄家乡锡伯族中小学的150名中小学生口腔黏膜细胞,Chelex 100法提取DNA,进行荧光标记PCR扩增,产物在Li-COR 4300基因分析仪上进行电泳,E-seq分析软件计算扩增产物片段相对大小,进行基因型分型.调查辽宁地区锡伯族群体 3个 STR基因座等位基因频率,进行遗传多态性分析.结果与结论:辽宁锡伯族群体中3个STR基因座具有遗传多态性,其基因型分布符合Hardy-Weinberg平衡定律.辽宁锡伯族群体中3个STR基因座的杂合度分布在0.769~0.810;个人识别力分布在0.824~0.929,累积个人识别能力为0.999;多态信息量分布在 0.650~0.790;非父排除率分布在0.565~0.790,累积非父排除率为0.979.说明辽宁锡伯族群体3个常染色体STR基因座有较高的非父排除率和个体识别能力,可为法医学亲子鉴定和个体识别及移植配型等遗传学研究提供依据.