6个X-STR基因座的连锁不平衡和单倍型分析

X染色体遗传标记具有特殊的遗传特点,使其成为亲权鉴定重要的辅助遗传标记[1-2],尤其是在祖母-孙女等亲权关系的鉴定。部分紧密连锁的X染色体短串联重复序列（X,X-STR）呈连锁遗传;因此XSTR检验时,既要考虑基因座间的连锁关系,也要考虑不同等位基因间的连锁不平衡状态。本研究分析Xq21、26区6个X-STR基因座（DXS10101、HPRTB、DXS10103、DXS6799、DXS6789、DXS6801）的连锁不平衡状态及其单倍型分布,为法医学应用提供基础。     

24个X-STR及7个Y-STR基因座复合扩增体系建立及法庭科学有效性验证

目的建立24个X-STR基因座及7个Y-STR基因座的复合扩增体系,进行24个X-STR基因座的遗传多态性调查,并评价该体系的法医学应用价值。方法采用六色荧光标记技术,对24个X-STR基因座(DXS6803,DXS10159,DXS10146,DXS7132,DXS10075,DXS8378,DXS7424,DXS101,DXS6795,HUMARA,DXS10074,DXS6801,DXS6789,DXS10135,GATA144D04,DXS7423,DXS10101,HPRTB,DXS10148,GATA165B12,DXS10103,DXS8377,DXS6797,DXS6810)进行复合扩增和毛细管电泳检测;调查山东汉族1057名无关男性个体24个X-STR基因座的遗传多态性,并对系统性能进行评价。结果本文建立的复合扩增体系中的24个X-STR基因座,在1057名个体中共检出1057种单倍型。方法特异性好,分型结果准确稳定,灵敏度达0.0625ng,实际案例常见生物检材的检验结果良好。结论该复合扩增检测体系可以用于实际案例检验,弥补商品化X-STR基因座复合扩增检测体系的不足,联合应用加入的Y-STR基因座适用于混合斑的鉴别。     

新疆汉族和维吾尔族群体5个X-STR基因座的遗传多态性

近年来X染色体STR(X-STR)已得到法医工作者的青睐,与常染色体STR联合应用于法医学实践[1-5].X-STR与常染色体STR相比有其独特的特征[6],遗传过程中母亲的X染色体可以遗传给女儿和儿子,而父亲的X染色体只能遗传给女儿.由于单个X-STR提供的信息有限,因此有必要寻找更多多态性高的X-STR基因座并建立群体遗传学资料[7-8].本研究应用二色荧光标记5个X-STR基因座(DXS6803、DXS981、DXS6809、DXS6789和DXS7132)复合扩增体系,调查新疆汉族和维吾尔族群体多态性,比较其差异,获得2个群体的遗传学数据.为建立X-STR基因座群体遗传学资料和建立X-STR数据库奠定基础.     

浙江汉族人群12个X-STR基因座遗传多态性调查

目的调查12个X染色体STR基因座在浙江汉族人群的遗传多态性,为法医学应用提供基础数据。方法应用ZJGA-X12荧光标记复合扩增系统,对浙江汉族468名无关男性个体与449名无关女性个体进行DXS7133、DXS8378、DXS981、DXS7424、DXS6789、DXS10159、GATA165B12、DXS101、DXS7423、GA-TA31E08、DXS10164、DXS10162这12个X-STR基因座的复合扩增,用ABI3130XL型基因分析仪对扩增产物进行检测,并统计这12个X-STR基因座的群体遗传学参数。结果获得12个X-STR基因座的等位基因频率分布,分别检出8、7、13、12、11、8、7、16、6、8、9、11个等位基因,获得男性样本DXS10159-DXS10162-DXS10164与DXS101-DXS7424两组连锁基因座单倍型119、62种;分别统计了12个X-STR基因座的GD、DP、MEC等法医遗传学参数。结论 12个X-STR基因座具有较强个体识别能力,可应用于法庭科学中的个体识别与亲权鉴定。     

山东地区汉族人群15个X-STR基因座的遗传多态性

目的研究山东地区汉族人群15个X-STR基因座的遗传多态性,建立法医学应用数据库。方法采用Primer Premier 5.0软件设计多重PCR引物,用4色荧光(FAM、VIC、NED、TET)进行标记,建立多重PCR体系,对山东地区无关汉族人群481例个体(女性295例,男性186例)的15个X染色体上筛选的STR基因座(DXS10011、DXS101、GATA165B12、DXS6795、DXS6800、DXS6801、DXS6803、DXS7132、DXS7133、DXS7423、DXS7424、DXS8377、DXS8378、DXS9898和HPRTB)进行检测。结果所检测的15个X-STR基因座中,GATA165B12、DXS6800、DXS6803、DXS7133与DXS7423在中国山东汉族人群中具有中度多态性,其余10个基因座都具有高度多态性(PIC0.5,H0.5)。群体中男性样本之间没有检测到共享单倍型。结论构建的荧光标记复合扩增体系为建立中国山东汉族人群X-STR基因座群体遗传学数据库及其法医学应用提供了有效的手段。     

Mentype~ Argus X-8试剂盒在亲权鉴定中的应用价值

目的 验证Mentype Argus X-8试剂盒在中国人群中的应用价值.积累该试剂盒中所包含的8个X-STR基因座在中国人群中的遗传学数据.方法 应用Mentype Argus X-8试剂盒对华东地区177名汉族无关个体的血样以及104例二联体亲权鉴定案例进行X-STR分型.统计分析试剂盒中所包含的8个X-STR基因座的频率分布及遗传多态性信息.结果 8个X-STR基因座在中国人群中的多态性信息量在0.4454-0.9187.其中以DXS10135和DXS10101的多态信息含量最为丰富,在亲权鉴定案例中的排除率亦最高.除DXS7132基因座外,其余7个基因座在男性及女性群体中的分布差异无统计学意义.另外,中国人群中检测到一些新的等位基因:DXSl0074(等位基因15.3)、DXS10101(等住基因36)和DXS10134(等位基因37.3). 结论 Mentype Argus X-8试剂盒所包含的8个基因座具有高度多态性,在特殊亲权案件的鉴定中具有重要的应用价值.     

16个X-STR基因座的连锁不平衡检验和突变率调查CSCD

目的检测X染色体上16个STR基因座的连锁不平衡情况,并对其遗传稳定性进行调查。方法从华东汉族群体选取女性无关个体500名、家系885个,提取血样DNA,利用自主研发的IDtyper X-16试剂盒对16个X-STR基因座进行多重PCR扩增和毛细管电泳分型,使用Power Marker v3.25软件对基因座进行连锁不平衡检验,并分析各个基因座的突变率。结果 16个X-STR基因座彼此之间不存在连锁不平衡现象;有10个基因座检见突变,其中DXS6809和DXS7132的突变率均高达0.004 8。结论对于IDtyper X-16试剂盒中的16个X-STR基因座,在亲权鉴定中应用时可运用乘积原理计算似然率,但若遇到不符合遗传规律的情形(尤其是DXS6809、DXS7132基因座),应考虑存在突变的可能。     

山西汉族群体DXS6804和DXS6800遗传多态性

X染色体STR在一些缺失亲代的姐妹亲权鉴定案件中具有一些常染色体遗传标记所没有的优点。本文报道DXS6804和DXS6800两个X-STR基因座的遗传多态性,旨在为法医学应用提供基本数据。     

16个X-STR基因座在河南汉族人群中的法医学应用评估

目的调查16个X-STR基因座在河南汉族人群中的遗传学数据,评估其法医学应用价值。方法应用Goldeneye~(TM)DNA身份鉴定系统17X试剂盒,对河南地区326名汉族无关个体DNA进行PCR扩增,3130xl型遗传分析仪电泳分析,Gene Mapper~ID-X软件分析等位基因片段大小。统计分析16个X-STR基因座的频率数据和群体遗传学参数,并与其他地区已有人群数据进行比较。结果在所检测的16个X-STR基因座中,DXS6800具有中度多态性,其余15个基因座均具有高度多态性。这16个X-STR基因座在女性群体的累积个人识别率为0.999 999 999 999 992,在男性群体的累积个人识别率为0.999 999 996 577 712,在三联体中的累积非父排除率为0.999 999 971,在二联体中的累积非父排除率为0.999 992 574。结论这16个X-STR基因座达到了法医物证学应用要求,尤其对特殊的亲权鉴定案件具有重要的应用价值。     

山西汉族X-STR基因座DXS9902、DXS7132的遗传多态性

X染色体STR基因座由于其独特的遗传方式,在法医学鉴定的一些特殊案件中表现出了常染色体遗传标记无法比拟的优势,已有多个X染色体的STR基因座被应用于法医学鉴定。本研究通过对山西汉族人群DXS9902和DXS7132两个X-STR基因座及单倍型遗传多态性进行调查,为法医学个体识别、亲子鉴定及遗传学研究等提供了基础数据。     

云南怒族X染色体5个STR基因座遗传多态性

目的以云南怒族无关个体为研究对象,调查怒族群体DXS6804、DXS6799、DXS8378、DXS7130、DXS7132基因座的基因频率及基因型频率分布,建立群体遗传数据库。方法用聚合酶链反应(PCR)、变性聚丙烯酰胺凝胶电泳结合银染的方法,检测100名云南怒族个体X染色体上5个STR基因座的重复序列长度变化。结果云南怒族群体5个STR基因座具有遗传多态性,χ2检验表明多态性分布符合Hardy-Weinberg平衡定律。结论云南怒族群体DXS6804、DXS6799、DXS8378、DXS7130和DXS7132基因座,可用于法医学个体识别、亲子鉴定等研究。     

Investigator Argus X-12试剂盒在华东汉族人群中的法医学应用评估

目的 调查Investigator Argus X-12试剂盒中所包含的12个X-STR基因座在华东汉族人群中的遗传学数据,考察其法医学应用价值.方法 应用Investigator Argus X-12试剂盒对华东地区309名汉族无关个体进行X-STR基因座分型检测,统计分析12个X-STR基因座的频率数据、群体遗传学...     

A X-chromosome STR hexaplex as a powerful tool in deficiency paternity cases

The X-chromosome short tandem repeat (STR) markers have been described as very adequate tools for solving deficiency paternity cases and kinship tests when women are involved. In the absence of the alleged father, presumed paternal relationship can be more efficiently investigated by using a set of six to ten X-STR markers compared to fifteen autosomal STR. For this study, we compared the usefulness of a X-STR hexaplex developed in our laboratory (DXS7133, DXS7424, DXS8378, DXS6807, DXS7423 and DXS8377) and the commercial kit Identifiler in solving deficiency paternities. We have worked on distinct groups of caseworks involving daughters, their mothers and presumed paternal grandmothers or putative half sisters and their respective mothers. The PCR products were separated by capillary electrophoresis and detected in an ABI Prism 3100. In the majority of the caseworks (>90%), the likelihood ratio (LR) obtained by using the X-STR hexaplex was higher than the LR value observed when the Identifiler kit was used for genotyping. The combination of the two STR typing systems was able to solve all the cases.     

Polymorphism of four X-chromosomal STR loci in Belarusians and Slovaks

We have investigated four X-chromosomal STR loci (a tetranucleotide repeat marker HPRTB, DXS7423 and trinucleotide repeat systems DXS101, DXS8377) in population samples of unrelated Belarusian and Slovak males (N = 180 and 116, respectively).Markers were amplified in a multiplex PCR reaction with primers labeled with fluorescent dyes 5-FAM and 5-JOE (dye set F). The separation and detection of PCR products were performed by capillary electrophoresis on a 3130 Genetic Analyzer (Applied Biosystems), using positive controls (K562 and NA9947A) and the GeneScan-500 ROX internal lane standard. Allele designation was based on comparison with the constructed allelic ladder. We performed statistical analysis estimating power of discrimination for males (PD_male). Our data was compared with European populations from Poland and Germany. The obtained data are useful in forensic practice and they contribute to creation of national X-STR databases in Belarus and Slovakia.     

The polymorphisms of 12 X-STR loci in six ethnic populations in China

To explore the genetic polymorphisms of 12 X-STR loci for Guangdong Han population and other five minor ethnic populations (Tibetan, Mongolian, Korean, Uighur and Hui) in China, 1298 samples from unrelated individuals of these 6 ethnic populations were amplified with Investigator™ Argus X-12 multiplex PCR system. 238 alleles were observed totally, which included 66 off-ladder alleles. All the loci showed no difference in sex-related allele frequency. The combined discrimination power (CDP) was ranged from 0.999999996 to 0.999999999 in males for these 6 populations and the CDP value in females was all reached 0.999999999. The combined mean exclusion chance (CMEC) was ranged from 0.999998336 to 0.999999926 in duo paternity cases and 0.999999987 to 0.999999999 in trio paternity cases in 6 populations. All of the 12 loci were in accordance with Hardy–Weinberg equilibrium after Bonferroni's correction. Linkage disequilibrium was observed for DXS10103–DXS10101 pair in 6 populations. Significant differences between all pairs of populations were observed at 2–11 loci respectively. The phylogenetic tree consisted of two main branches for these 6 populations, which was consistent with the geographic and historic distributions.     

Polymorphism of eight X-chromosomal STRs in a Japanese population

Eight X-chromosomal short tandem repeat (X-STR) markers were analyzed in 258 unrelated Japanese (144 males and 114 females) using Mentype^® Argus X-8 PCR Amplification Kit (Biotype AG) which contains DXS7132, DXS7423, DXS8378, DXS10074, DXS10101, DXS10134, DXS10135 and HPRTB. The DXS10135 locus proved to be highly polymorphic marker (PIC: 0.945) and the DXS7423 showed the lowest value (PIC: 0.453). The exact test for genotype distribution showed no significant deviation from the Hardy-Weinberg equilibrium.     

Genetic data of 10 X-STRs in a population sample from Lima,Perú

Genetic population data for 10 X-STR (DXS6789, DXS9902, DXS7132, GATA31E08, DXS7133, DXS9898, DXS8378, DXS6809, DXS7423 and GATA172D05) were obtained from Lima population. The present study results support the usefulness of these markers in kinship investigation and also in population genetics studies.     

12个mini-X-STR和Amel基因座荧光标记复合扩增体系的初步研究

目的研究建立12个mini-X-STR和Amel基因座复合扩增体系。方法选择DXS101、DXS10159、DXS10162、DXS10164、DXS6789、DXS7133、DXS7423、DXS7424、DXS8378、DXS981、GATA165B12和GA-TA31E08共12个X-STR与Amelogenin基因座,自行设计引物,分别采用FAM、HEX、Tamra、ROX四色荧光标记5′端,并进行必要的修饰,按照合适的引物浓度进行混合。对97个血痕样本进行复合扩增,并用ABI3130XL进行电泳和分型。结果所建立的荧光标记复合扩增体系能够得到清晰、明确的分型图谱,灵敏度达50pg,稳定性、重复性与平衡性较佳。结论本研究建立的12个mini-X-STR和Amel基因座荧光标记复合扩增体系统检验方法简单,灵敏度高,适合实际办案的需要。