kinship

亲属关系
  • 文章类型: Journal Article
    背景:内蒙古绒山羊(IMCG),以其卓越的羊绒品质而闻名,是中国本土山羊品种,经过长时间的自然和人工选择而发展起来。然而,最近,由于引入世界性山羊品种和缺乏适当的品种保护系统,IMCG的遗传资源受到了重大威胁。
    结果:为了评估IMCG的保护效果并有效保存和利用纯种种质资源,这项研究分析了遗传多样性,亲属关系,家庭结构,并利用来自225个随机选择的个体的重新测序数据对IMCG进行近亲繁殖,这些个体使用Plink(v.1.90)进行分析,GCTA(v.1.94.1),和R(v.4.2.1)软件。通过质量控制,从225名个体获得的34,248,064个SNP位点中总共筛选出12,700,178个高质量SNP。平均次要等位基因频率(MAF),多态信息含量(PIC),香农信息指数(SHI)分别为0.253、0.284和0.530。平均观察杂合度(Ho)和平均期望杂合度(He)分别为0.355和0.351。通过状态距离矩阵和基因组关系矩阵对身份的分析表明,大多数个体的遗传距离和遗传关系都很远,近交系数低。家庭结构分析确定了23只公羊中的10个家庭。在225个个体中总共鉴定了14,109个纯合性(ROH),平均ROH长度为1014.547kb。平均近亲繁殖系数,根据ROH计算,总人口为0.026,特别是23只公羊中的0.027,表明保守人口中近亲繁殖的水平较低。
    结论:IMCG表现出中等多态性和低水平的近亲繁殖发生在有限数量的个体中。同时,有必要防止血统的流失,以保证IMCGs种质资源的永存。
    BACKGROUND: Inner Mongolia cashmere goat (IMCG), renowned for its superior cashmere quality, is a Chinese indigenous goat breed that has been developed through natural and artificial selection over a long period. However, recently, the genetic resources of IMCGs have been significantly threatened by the introduction of cosmopolitan goat breeds and the absence of adequate breed protection systems.
    RESULTS: In order to assess the conservation effectiveness of IMCGs and efficiently preserve and utilize the purebred germplasm resources, this study analyzed the genetic diversity, kinship, family structure, and inbreeding of IMCGs utilizing resequencing data from 225 randomly selected individuals analyzed using the Plink (v.1.90), GCTA (v.1.94.1), and R (v.4.2.1) software. A total of 12,700,178 high-quality SNPs were selected through quality control from 34,248,064 SNP sites obtained from 225 individuals. The average minor allele frequency (MAF), polymorphic information content (PIC), and Shannon information index (SHI) were 0.253, 0.284, and 0.530, respectively. The average observed heterozygosity (Ho) and the average expected heterozygosity (He) were 0.355 and 0.351, respectively. The analysis of the identity by state distance matrix and genomic relationship matrix has shown that most individuals\' genetic distance and genetic relationship are far away, and the inbreeding coefficient is low. The family structure analysis identified 10 families among the 23 rams. A total of 14,109 runs of homozygosity (ROH) were identified in the 225 individuals, with an average ROH length of 1014.547 kb. The average inbreeding coefficient, calculated from ROH, was 0.026 for the overall population and 0.027 specifically among the 23 rams, indicating a low level of inbreeding within the conserved population.
    CONCLUSIONS: The IMCGs exhibited moderate polymorphism and a low level of kinship with inbreeding occurring among a limited number of individuals. Simultaneously, it is necessary to prevent the loss of bloodline to guarantee the perpetuation of the IMCGs\' germplasm resources.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    亲属关系推断一直是法医遗传学中的一个主要问题,当没有先验假设并且多个个体之间的关系未知时,它仍有待解决。在这项研究中,我们使用大规模平行测序对46份谱系样本中的91个微单倍型进行了基因分型,并通过计算似然比(LR)推断了它们的相关性.根据模拟和真实数据,在存在和不存在相关性假设的情况下,采用不同的治疗方法.通过基于真实谱系样本计算谱系可能性来重建多个个体的谱系。结果表明,91MHs可以将二级亲属与无关个体区分开来。并且需要更高的多态性位点来区分二度或更远的亲戚与其他程度的关系,但是可以通过将搜索的可疑关系扩展到具有较低LR值的其他关系来获得正确的分类。如果他们密切相关,则可以成功重建具有未知关系的多个个体。我们的研究为没有先验假设的亲属关系推断提供了解决方案,并探讨了当多个个体的关系未知时进行谱系重建的可能性。
    Kinship inference has been a major issue in forensic genetics, and it remains to be solved when there is no prior hypothesis and the relationships between multiple individuals are unknown. In this study, we genotyped 91 microhaplotypes from 46 pedigree samples using massive parallel sequencing and inferred their relatedness by calculating the likelihood ratio (LR). Based on simulated and real data, different treatments were applied in the presence and absence of relatedness assumptions. The pedigree of multiple individuals was reconstructed by calculating pedigree likelihoods based on real pedigree samples. The results showed that the 91 MHs could discriminate pairs of second-degree relatives from unrelated individuals. And more highly polymorphic loci were needed to discriminate the pairs of second-degree or more distant relative from other degrees of relationship, but correct classification could be obtained by expanding the suspected relationship searched to other relationships with lower LR values. Multiple individuals with unknown relationships can be successfully reconstructed if they are closely related. Our study provides a solution for kinship inference when there are no prior assumptions, and explores the possibility of pedigree reconstruction when the relationships of multiple individuals are unknown.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    DNA混合物是法医遗传学中常见的样本类型,并且我们通常假设在计算似然比(LR)时对混合物的贡献是不相关的。然而,涉及与相关贡献者混合的场景,比如在家庭谋杀或乱伦案件中,也可以遇到。与不相关贡献者的混合物相比,混合物中的亲缘关系将为推断贡献者数量(NOC)和构建概率基因分型模型带来额外的挑战.为了评估潜在的亲属关系对感兴趣的人(POI)的个人身份的影响,我们模拟了包含无关或相关贡献者(父母-子女,兄弟姐妹,和叔叔-侄子)以不同的混合比(对于2P:1:1、4:1、9:1和19:1;对于3P:1:1:1、2:1:1、5:4:1和10:5:1),并在MGI平台上使用MGIEasy签名鉴定文库制备试剂盒进行大规模平行测序(MPS)。此外,还对具有无关和相关贡献者的混合物进行了计算机模拟。在这项研究中,我们评估了1):MPS性能;2)多种遗传标记对确定混合物中相关贡献者的存在并推断NOC的影响;3)基于计算机混合谱的MAC(最大等位基因计数)和TAC(总等位基因计数)的概率分布;4)LR值的趋势,考虑了与相关和无关贡献者的混合物中的亲缘关系;5)LR值与基于长度和序列的STR基因型的趋势。结果表明,多种数量和类型的遗传标记对混合物中的亲缘关系和NOC推断有积极影响。POI的LR值强烈依赖于混合比。非亲属关系假设和正确亲属关系假设基本上不会影响主要POI的个体识别;正确的亲属关系假设产生了更保守的LR值;不正确的亲属关系假设并不一定导致POI个体识别的失败。然而,值得注意的是,这些考虑因素可能会导致次要贡献者的识别结果不确定。与基于长度的STR基因分型相比,使用基于序列的STR基因型增加了POI的个体识别能力,同时使用EuroForMix提高混合比推断的准确性。总之,MGIEasy签名识别库准备套件展示了强大的个人识别能力,这是一个可行的MPS小组,用于法医DNA混合物解释,是否涉及无关或相关的贡献者。
    DNA mixtures are a common sample type in forensic genetics, and we typically assume that contributors to the mixture are unrelated when calculating the likelihood ratio (LR). However, scenarios involving mixtures with related contributors, such as in family murder or incest cases, can also be encountered. Compared to the mixtures with unrelated contributors, the kinship within the mixture would bring additional challenges for the inference of the number of contributors (NOC) and the construction of probabilistic genotyping models. To evaluate the influence of potential kinship on the individual identification of the person of interest (POI), we conducted simulations of two-person (2 P) and three-person (3 P) DNA mixtures containing unrelated or related contributors (parent-child, full-sibling, and uncle-nephew) at different mixing ratios (for 2 P: 1:1, 4:1, 9:1, and 19:1; for 3 P: 1:1:1, 2:1:1, 5:4:1, and 10:5:1), and performed massively parallel sequencing (MPS) using MGIEasy Signature Identification Library Prep Kit on MGI platform. In addition, in silico simulations of mixtures with unrelated and related contributors were also performed. In this study, we evaluated 1): the MPS performance; 2) the influence of multiple genetic markers on determining the presence of related contributors and inferring the NOC within the mixture; 3) the probability distribution of MAC (maximum allele count) and TAC (total allele count) based on in silico mixture profiles; 4) trends in LR values with and without considering kinship in mixtures with related and unrelated contributors; 5) trends in LR values with length- and sequence-based STR genotypes. Results indicated that multiple numbers and types of genetic markers positively influenced kinship and NOC inference in a mixture. The LR values of POI were strongly dependent on the mixing ratio. Non- and correct-kinship hypotheses essentially did not affect the individual identification of the major POI; the correct kinship hypothesis yielded more conservative LR values; the incorrect kinship hypothesis did not necessarily lead to the failure of POI individual identification. However, it is noteworthy that these considerations could lead to uncertain outcomes in the identification of minor contributors. Compared to length-based STR genotyping, using sequence-based STR genotype increases the individual identification power of the POI, concurrently improving the accuracy of mixing ratio inference using EuroForMix. In conclusion, the MGIEasy Signature Identification Library Prep kit demonstrated robust individual identification power, which is a viable MPS panel for forensic DNA mixture interpretations, whether involving unrelated or related contributors.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    由于其多样化和独特的形态,对Peristediidae家族的系统修订仍然是一个悬而未决的问题。尽管使用线粒体基因组研究来全面了解鱼类的系统发育关系很受欢迎,需要包括周类鱼类的遗传数据。因此,本研究利用线粒体基因组分析的方法,探讨小附子科的线粒体基因组特征和家族内系统进化关系。因此,本研究旨在通过线粒体基因组分析来研究小附子科的系统发育关系。四逆境科(Peristedionliorhynchus,Satyrichthyswelchi,SatyrichthysRieffeli,研究了在东海收集的Scalicusamiscus)。4种鱼类的线粒体基因序列长度为16,533bp,16,526bp,16,527bp,和16,526个基点,分别。它们具有相同的线粒体结构,均由37个基因和一个控制区组成。大多数PCG使用ATG作为起始密码子,少数人使用GTG作为起始密码子。出现不完全终止密码子(TA/T)。来自四个物种的13个PCGs的AT-偏斜和GC-偏斜值均为负,GC-偏斜幅度大于AT-偏斜幅度。所有D臂病例均在tRNA-Ser(GCT)中发现。Ka/Ks比率分析表明13个PCG正在进行纯化选择。基于12个PCG(不包括ND6)序列,使用贝叶斯推理(BI)和最大似然(ML)方法构建系统发育树,进一步补充了对科鱼类的科学分类。根据分歧时间的结果,这四种鱼类在新生代早期有明显的差异,这表明当时的地质事件引起了物种分化和进化的高潮。
    The systematic revision of the family Peristediidae remains an unresolved issue due to their diverse and unique morphology. Despite the popularity of using mitochondrial genome research to comprehensively understand phylogenetic relationships in fish, genetic data for peristediid fish need to be included. Therefore, this study aims to investigate the mitochondrial genomic characteristics and intra-family phylogenetic relationships of Peristediidae by utilizing mitochondrial genome analysis. Therefore, this study aims to investigate the phylogenetic relationship of Peristediidae by utilizing mitochondrial genome analysis. The mitochondrial genome of four species of Peristediidae (Peristedion liorhynchus, Satyrichthys welchi, Satyrichthys rieffeli, and Scalicus amiscus) collected in the East China Sea was studied. The mitochondrial gene sequence lengths of four fish species were 16,533 bp, 16,526 bp, 16,527 bp, and 16,526 bp, respectively. They had the same mitochondrial structure and were all composed of 37 genes and one control region. Most PCGs used ATG as the start codon, and a few used GTG as the start codon. An incomplete stop codon (TA/T) occurred. The AT-skew and GC-skew values of 13 PCGs from four species were negative, and the GC-skew amplitude was greater than that of AT-skew. All cases of D-arm were found in tRNA-Ser (GCT). The Ka/Ks ratio analysis indicated that 13 PCGs were suffering purifying selection. Based on 12 PCGs (excluding ND6) sequences, a phylogenetic tree was constructed using Bayesian inference (BI) and maximum likelihood (ML) methods, providing a further supplement to the scientific classification of Peristediidae fish. According to the results of divergence time, the four species of fish had apparent divergence in the Early Cenozoic, which indicates that the geological events at that time caused the climax of species divergence and evolution.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    谱系似然比(LR)可用于确定法医亲属关系测试中的亲属关系。LR可以通过分析短串联重复序列(STR)和单核苷酸多态性(SNP)基因座的DNA数据来获得。随着生物技术的进步,越来越多的遗传标记已经被识别,从而扩大亲属关系检验的谱系范围。此外,一些基因座在物理上彼此接近,基因座之间的遗传连锁是不可避免的。LRs可以通过考虑联系或忽略联系来计算(LRlinkage和LRignore,分别)。GeneVisa是一款用于亲属关系测试的软件(www.genesia.net),并采用Lander-Green算法处理遗传连锁。在这里,我们使用软件GeneVisa的模拟程序来研究遗传连锁对1度的影响,二级,和三度亲属关系测试。我们使用该软件通过使用欧洲人群的等位基因频率和遗传距离数据,基于商业试剂盒中的43个STR和134个SNP来模拟LRlinkage和LRignore值。通过将LRlinkage值与LRignore值进行比较,研究了连锁对常规病例的LR分布和LR的影响。我们的结果表明,对LR分布的连锁效应很小,但对常规病例LRs的影响可能很大。此外,结果表明,遗传标记对亲属关系测试的判别能力可以通过考虑连锁来提高。
    The pedigree likelihood ratio (LR) can be used for determining kinship in the forensic kinship testing. LR can be obtained by analyzing the DNA data of Short tandem repeat (STR) and single nucleotide polymorphism (SNP) loci. With the advancement of biotechnology, increasing number of genetic markers have been identified, thereby expanding the pedigree range of kinship testing. Moreover, some of the loci are physically closer to each other and genetic linkage between loci is inevitable. LRs can be calculated by accounting for linkage or ignoring linkage (LRlinkage and LRignore, respectively). GeneVisa is a software for kinship testing (www.genevisa.net) and adopts the Lander-Green algorithm to deal with genetic linkage. Herein, we used the simulation program of the software GeneVisa to investigate the effects of genetic linkage on 1st-degree, 2nd-degree, and 3rd-degree kinship testing. We used this software to simulate LRlinkage and LRignore values based on 43 STRs and 134 SNPs in commercial kits by using the allele frequency rate and genetic distance data of the European population. The effects of linkage on LR distribution and LRs of routine cases were investigated by comparing the LRlinkage values with the LRignore values. Our results revealed that the linkage effect on LR distributions is small, but the effect on LRs of routine cases may be large. Moreover, the results indicated that the discriminatory power of genetic markers for kinship testing can be improved by accounting for linkage.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    OBJECTIVE: To investigate the technical performance of IDentifier DNA typing kit (YanHuang34) and evaluate its forensic application value.
    METHODS: Following the Criterion of Forensic Science Human Fluorescence STR Multiplex Amplification Reagent (GB/T 37226-2018), IDentifier DNA typing kit (YanHuang34) was verified in 11 aspects of species specificity, veracity, sensibility, adaptability, inhibitor tolerance, consistency, balance, reaction condition verification, mixed samples, stability and inter batch consistency. The system efficiency of IDentifier DNA typing kit (YanHuang34) was compared with the PowerPlex® Fusion 6C System, VersaPlex® 27PY System and VeriFilerTM Plus PCR Amplification Kit. The IDentifier DNA typing kit (YanHuang34) was used to detect the swabs of biological samples in daily cases and the STR performances were observed.
    RESULTS: IDentifier DNA typing kit (YanHuang34) had good species specificity, veracity, adaptability, inhibitor tolerance and balance. The sensibility was up to 0.062 5 ng. It was able to detect different types of samples, degraded samples and inhibitor mixed samples. Complete DNA typing could be obtained for samples with the mixture ratio less than 4∶1. The system efficiency of IDentifier DNA typing kit (YanHuang34) was very high, with TDP up to 1-1.08×10-37, CPEtrio and CPEduo up to 1-5.47×10-14 and 1-6.43×10-9, respectively. For the touched biological samples in actual cases, the effective detection rate was 21.05%. The system efficiency of kinship, single parent and full sibling identifications was effectively improved.
    CONCLUSIONS: The IDentifier DNA typing kit (YanHuang34) is adaptive to the GB/T 37226-2018 requirements. It can be used for individual identification and paternity identification, and is suitable for application in the field of forensic science.
    目的: 测试IDentifier DNA分型盒(炎黄34)的技术性能指标,评估其法医学应用价值。方法: 根据《法庭科学人类荧光标记STR复合扩增检测试剂质量基本要求》(GB/T 37226—2018),从种属特异性、分型准确性、灵敏度、适应性、耐受性、一致性、均衡性、反应条件验证、混合样本、稳定性、批间差11个方面对IDentifier DNA分型盒(炎黄34)进行测试。比较IDentifier DNA分型盒(炎黄34)与PowerPlex® Fusion 6C系统、VersaPlex® 27PY系统、VeriFilerTM Plus PCR扩增试剂盒的系统效能。使用IDentifier DNA分型盒(炎黄34)检测日常案件中的拭子类生物检材,观察其STR检验结果。结果: IDentifier DNA分型盒(炎黄34)具有良好的种属特异性、分型准确性、适应性、耐受性和均衡性,灵敏度可达0.062 5 ng,能检测案件中不同类型的检材、降解检材及混有抑制剂的检材,对混合比例为4∶1以内的样本均能获得完整分型。该试剂盒的系统效能非常高,TDP可达1-1.08×10-37,CPEtrio和CPEduo分别可达1-5.47×10-14和1-6.43×10-9。针对案件中的接触类生物检材,其有效检出率可达21.05%。针对亲缘关系鉴定,单亲鉴定和全同胞鉴定的系统效能均得到了有效提高。结论: IDentifier DNA分型盒(炎黄34)的上述性能指标符合要求,可用于个体识别及亲权鉴定,适合在法庭科学领域应用。.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: English Abstract
    目的:评价脉冲场凝胶电泳(PFGE)三种分子分型方法的相关性,重复基因外回文(REP)-PCR和超细菌重复基因间共识(ERIC)-PCR,并探索菌株之间的遗传关系,结合血清型分析,进一步了解辽宁省副溶血性弧菌的分布和流行趋势。
    方法:血清分型,PFGE,REP-PCR,对2018年辽宁省150株VP分离株进行ERIC-PCR分子分型和聚类分析。
    结果:118个分离株可分为14个血清型,32个分离株无法分类。主要血清型为O3、O1和O2。PFGE的分辨率(DI)为0.969,REP-PCR的分辨率(DI)为0.948,ERIC-PCR的分辨率(DI)为0.927。血清型O3组菌株与O1组菌株的分子类型高度相似。
    结论:2018年,辽宁省临床VP分离株流行血清型仍为O3:K6,食品VP分离株流行血清型仍为O2。PFGE的结果,REP-PCR,ERIC-PCR分型方法是一致的,PFGE分型法的分辩率和重现性均优于其他两种分型法。血清型O3组与O1组密切相关。
    OBJECTIVE: To evaluate the correlation among the three molecular typing method of pulsed field gel electrophoresis(PFGE), repetitive extragenic palindromic(REP)-PCR and en-terobacterial repetitive intergenic consensus(ERIC)-PCR, and to explore the genetic relationship among strains, and to further understand the distribution and epidemic trend of Vibrio parahaemolyticus in Liaoning Province by combining Serotype analysis.
    METHODS: Serum typing, PFGE, REP-PCR, and ERIC-PCR molecular typing and cluster analysis were performed on 150 VP isolates from Liaoning Province in 2018.
    RESULTS: 118 isolates could be divided into 14 Serotype, and 32 isolates could not be classified. The main serotypes were O3, O1 and O2. The resolution(DI) of PFGE is 0.969, the resolution(DI) of REP-PCR is 0.948, and the resolution(DI) of ERIC-PCR is 0.927. The Serotype O3 group strains are highly similar to the molecular types of O1 group strains.
    CONCLUSIONS: In 2018, the epidemic Serotype of clinical VP isolates in Liaoning Province is still O3: K6, and the epidemic serotype of food VP isolates is still O2. The result of PFGE, REP-PCR, and ERIC-PCR typing method are consistent, and the resolution and reproducibility of PFGE typing method are superior to the other two method. The Serotype O3 group is closely related to O1 group.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    城市化的快速推进带动了物质生活水平的提高,它也带来了快速的社会变革和加剧的竞争。在这种以高度竞争和强大压力为特征的“内进”环境中,城市居民往往会陷入“精神疲惫”的状态。\"焦虑,抑郁症,睡眠障碍,和其他精神疾病已经严重威胁到中国城市的公共健康。社会关系的支持对于提高居民的主观幸福感(SWB)和促进他们的心理健康至关重要,特别是在中国高度语境化的集体主义文化中。
    根据中国“差异序列”模式的社会结构,本文基于车队模型构建了社会关系与SWB关系的理论框架,并利用CGSS2018数据验证了理论框架的适用性。
    亲属关系和友谊与SWB呈正相关,它们的交互效应显著为负。邻域和SWB之间没有必要的相关性。不同年龄组的社会关系与SWB之间的关系是异质的。此外,相对收入和社会阶层的调节作用显著为负。
    亲属关系和友谊是中国城市居民\'SWB车队,这两个因素具有明显的替代效应。该社区已退出中国城市居民的车队轨道,这可能与中国住房制度改革造成的邻里冷漠有关。从生命历程的角度来看,中青年群体的SWB车队由亲情和友谊组成,而老年人的包括亲属关系和邻里关系。此外,对于生活在社会最底层的穷人来说,亲属关系的支持是社会资本最重要的来源。这些发现为社会关系与中国城市居民福利之间的关系提供了新的见解。
    UNASSIGNED: While the rapid advancement of urbanization has driven the improvement of material living standards, it has also brought about rapid social changes and intensified competition. In this \"involutive\" environment characterized by highly competitive and strong pressure, urban residents tend to fall into a state of \"mental exhaustion.\" Anxiety, depression, sleep disorders, and other mental illnesses have seriously threatened public health in Chinese cities. Support from social relations is crucial for enhancing residents\' subjective well-being (SWB) and promoting their mental health, especially in China\'s highly contextualized collectivist culture.
    UNASSIGNED: According to the social structure of China\'s \"difference sequence pattern,\" this paper constructs a theoretical framework of the relationship between social relations and SWB based on the convoy model and uses CGSS2018 data to verify the applicability of the theoretical framework.
    UNASSIGNED: Kinship and friendship positively relate to SWB, and their interaction effect is significantly negative. There is no necessary correlation between neighborhood and SWB. The relationship between social relations and SWB of different age groups is heterogeneous. In addition, the moderating effects of relative income and social class are significantly negative.
    UNASSIGNED: Kinship and friendship are Chinese urban residents\' SWB convoys, and these two factors have an obvious substitution effect. The neighborhood has withdrawn from the convoy orbit of Chinese urban residents\' SWB, which may be related to neighborhood indifference caused by China\'s housing system reform. From the life course perspective, the SWB convoys of young and middle-aged groups consist of kinship and friendship, while those of elderly people include kinship and neighborhood. In addition, for poor individuals living at the bottom of society, support from kinship is the most important source of social capital. These findings provide new insights into the relationship between social relations and the welfare of Chinese urban residents.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    OBJECTIVE: To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.
    METHODS: Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed.
    RESULTS: Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6.
    CONCLUSIONS: Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.
    目的: 研究中国汉族家系中Y-STR基因座容差规律,为SNP系谱推断与家系排查联用工作提供家系选择依据。方法: 选取3个遗传关系清晰的汉族家系,利用YFiler Platinum PCR扩增试剂盒,得到所采男性样本35个Y-STR基因座分型数据,统计分析Y-STR单倍型在世代遗传中的变化及1~7级亲缘关系中的容差。结果: 各家系突变基因座及突变次数有差异,Y-STR突变具有家系特异性,66.03%的突变发生在快、高速突变基因座。1~7级亲缘对在35个Y-STR基因座上容差在0~5个,最远6步长;在中、慢速突变基因座上容差在0~2个,最远3步长;在快、高速突变基因座上容差在0~3个,最远6步长。结论: 联合应用SNP系谱推断技术与Y-STR家系排查,0容差及多容差均需考虑。可优先筛查在全部35个Y-STR基因座上0~3个容差且在中、慢速基因座上0~1个容差的家系。差异数符合条件时,步长较远的家系应谨慎排除。同时,应谨慎增加快速突变基因座。.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    OBJECTIVE: To establish an analytical method for half sibling testing involving common three relatives\' participation.
    METHODS: Based on the half sibling testing scenarios with the known biological mother, grandfather or uncle, and two unidentified controversial half siblings participating, two opposing hypotheses were set. Lineage reconstruction according to Mendel\'s law of heredity was carried out, and the calculation formula of the half sibling kinship index was derived. Verification of actual cases was carried out and the results were compared with duo half sibling testing.
    RESULTS: In the scenarios of the known biological mother, grandfather and uncle participating in half sibling testing, the kinship calculation formulae of 54, 91 and 99 genotype combinations for kinship index calculation were deduced respectively. The actual cases showed higher kinship indexes in trio half sibling testing compared with duo half sibling testing.
    CONCLUSIONS: It is beneficial to obtain more genetic information for family reconstruction and improvement of the strength of genetic evidence for half sibling testing by adding known relatives.
    目的: 建立常见的三个体参与进行半同胞关系鉴定的分析方法。方法: 针对已知关系的母亲、爷爷或叔叔和两个有争议的半同胞参与的鉴定场景,分别设定两个对立假设,按照孟德尔遗传定律进行家系重建,推导半同胞亲缘关系指数计算公式。通过实际案件进行验证,并与两个体配对半同胞关系鉴定比较。结果: 在母亲、爷爷和叔叔分别参与的三个体半同胞鉴定场景,分别推算得到54、91及99种基因型组合的亲缘关系指数计算公式。实际案例分析结果显示,与两个体配对半同胞鉴定相比,三个体参与半同胞鉴定的亲缘关系指数均增大。结论: 增加已知亲属参与半同胞关系鉴定有利于获得更多的遗传信息进行家系重建,提高半同胞关系鉴定的遗传证据强度。.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号