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身高作为一项重要的人体测量学特征,不仅有助于认识其他人类学特征和遗传风险因素,也是法医DNA表型研究的重要内容。对于身高的准确推断可以更完整地提供嫌疑人的表型信息,为案件侦破提供帮助。近年分子生物学技术和生物信息学快速发展,身高相关的遗传学研究也取得一定研究进展。本文主要从遗传变异和表观遗传两方面阐述身高推断的研究进展,并对今后研究方向进行展望。 相似文献
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《法医学杂志》2019,(5)
人体外部可见特征(externally visible characteristic,EVC)的分子鉴识,也被称为法医DNA表型(forensic DNA phenotyping,FDP)推断。在常规调查无法确定罪犯身份、DNA数据库未成功比对时,可作为"分子目击证人",通过从犯罪现场留下的生物检材或未知名尸体中获取DNA,推断其外部可见表型特征,以协助侦破案件。近年来,筛选不同EVC相关分子标记的研究多有报道,一部分EVC的推断已经具有一定的准确性,如发色和虹膜颜色。随着人体外部表型特征分子遗传学基础研究的持续深入,以及分子生物学技术的不断创新,将促进人体表型特征DNA分子鉴识的飞速发展。 相似文献
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法医SNP系谱推断技术是利用基因组中的高密度SNP数据,基于血缘同源片段长度分析等算法,推断远亲缘关系的一种新型侦查技术手段。与传统STR亲缘关系鉴定方法相比,法医SNP系谱推断技术可以分析更远的亲缘关系,且可以在社会公共DNA数据库中进行家族关系搜索,应用场景更为广阔,包括犯罪嫌疑人查找、受害者的身源鉴定、失踪人口寻找等。本文就法医SNP系谱推断技术的遗传学原理、高密度SNP分型技术、常用的推断算法以及在低质量DNA中的应用等方面的研究进展进行阐述,以期为该技术应用时选择合适的检测技术和亲缘关系分析算法提供思路。 相似文献
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目的根据已知的HIrisPlex-S色素推断SNP复合检测体系,在中国人群中进行色素表型推断及体系的适用性研究。方法基于SNaPshot平台,构建包含2个复合扩增检测体系的41重SNP色素特征推断体系41-Plex。使用来自中国7个不同地域人群的200个无关个体DNA样本进行体系的准确性测试。通过人工表型分类读取眼睛及头发颜色;通过色素测量仪检测皮肤颜色,并计算个体类型角(individual typology angle,ITA)的数值对肤色进行分类。随后,使用在线推断模型(https://HIrisPlex.erasmusmc.nl/)进行每个样本的色素表型推断并计算准确率和受试者工作特征曲线下面积(the area under the receiver characteristic operating curve,AUC),根据对实验室参与者实际肤色表型的视觉认知,对手臂和脸颊ITA肤色分类标准进行了不同的调整并分别计算AUC值。结果该体系对棕色眼睛颜色推断准确率为97%,对黑色头发颜色推断准确率为100%。在尝试多种肤色分类方法后,得到相对较高的AUC值为:白肤色0.831、中间肤色0.661、深肤色0.641和较黑-黑肤色0.768。结论41-Plex色素推断体系可初步应用于中国人群色素表型推断及疑难案件样本检验中,为案件提供侦查线索。 相似文献
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目的根据报道的547个欧洲人群身高相关SNP位点构建中国汉族男性身高预测模型,评估此模型预测身高的准确性。方法采用Affymetrix SNP Array 6.0芯片和Hi Seq 4000测序平台对59例山东汉族男性样本进行DNA分型检测,并将这547个身高相关SNP位点作为预测因子,采用加权等位基因求和(weight allele sums,WAS)的计算方法建立预测模型。通过受试者工作特征曲线及曲线下面积(area under curve,AUC)对身高预测模型的准确性进行分析。结果样本全基因组关联分析未发现身高显著相关SNP位点。本研究用WAS法构建身高预测模型,获得的AUC值为0.67(95%置信区间为0.53~0.90)。结论用547个SNP位点的WAS模型预测山东汉族男性群体身高具有参考价值,但预测模型准确度的进一步提升需要通过筛选更多具有人群特异性的身高相关SNP位点来实现。 相似文献
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精神分裂症患者的暴力攻击行为发生率高于一般人群,暴力攻击行为在某些方面具有显著的遗传倾向性,与精神分裂症患者暴力攻击行为研究最多的是儿茶酚氧位甲基转移酶(catechol-O-methyltrans-ferase , COMT )基因。本文从COMT Val158Met 和COMT Ala72Ser 的SNP 多态性、COMT 基因单倍型、COMT基因启动子区DNA甲基化等方面对COMT基因变异与精神分裂症患者暴力攻击行为的相关性研究进行综述,并提出精神分裂症患者暴力攻击行为的遗传学研究方向。 相似文献
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Antoinette A. Westen Anuska S. Matai Jeroen F.J. Laros Hugo C. Meiland Mandy Jasper Wiljo J.F. de Leeuw Peter de Knijff Titia Sijen 《Forensic Science International: Genetics Supplement Series》2009,3(4):233-241
For the analysis of degraded DNA in disaster victim identification (DVI) and criminal investigations, single nucleotide polymorphisms (SNPs) have been recognized as promising markers mainly because they can be analyzed in short sized amplicons. Most SNPs are bi-allelic and are thereby ineffective to detect mixtures, which may lead to incorrect genotyping. We developed an algorithm to find non-binary (i.e. tri-allelic or tetra-allelic) SNPs in the NCBI dbSNP database. We selected 31 potential tri-allelic SNPs with a minor allele frequency of at least 10%. The tri-allelic nature was confirmed for 15 SNPs residing on 14 different chromosomes. Multiplex SNaPshot™ assays were developed, and the allele frequencies of 16 SNPs were determined among 153 Dutch and 111 Netherlands Antilles reference samples. Using these multiplex SNP assays, the presence of a mixture of two DNA samples in a ratio up to 1:8 could be recognized reliably. Furthermore, we compared the genotyping efficiency of the tri-allelic SNP markers and short tandem repeat (STR) markers by analyzing artificially degraded DNA and DNA from 30 approximately 500-year-old bone and molar samples. In both types of degraded DNA samples, the larger sized STR amplicons failed to amplify whereas the tri-allelic SNP markers still provided valuable information. In conclusion, tri-allelic SNP markers are suited for the analysis of degraded DNA and enable the detection of a second DNA source in a sample. 相似文献
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DNA甲基化在组织/体液来源鉴定中的研究进展 总被引:1,自引:1,他引:0
对可疑生物样本的组织/体液进行来源鉴别是重建犯罪现场、推断犯罪性质等侦查活动中极为重要的一环。对表观遗传学理论的研究证明运用基因组中存在的组织特异性DNA甲基化差异位点(t DMRs)可以对组织/体液进行来源鉴别。本文旨在通过对近年来DNA甲基化在法医学领域用于鉴定人体组织/体液来源方面的研究成果进行阐述,试图用所得到的信息来分析DNA甲基化作为一种组织/体液鉴定遗传学标记的可能性、优劣点及其应用价值和发展前景,以期能为法医工作者的相关研究及实践提供参考。 相似文献
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错配引物诱导酶切技术检测GC多态性 总被引:1,自引:0,他引:1
目的探讨建立检测GC点突变rs7041的引物错配诱导酶切技术(mismatch primer-induced RFLP,MPIR)及应用价值。方法针对GC基因点突变(NCBI Reference SNP ID:rs7401),设计错配引物进行PCR扩增,引物错配碱基结合GC点突变诱导XhoI酶切,产生GC-rs7041片断长度多态性,并调查183例温州汉族无关群体GC-rs7401多态性。结果引物错配诱导酶切技术对GC-rs7041亚型的3种基因型分型明确。温州地区汉族人群GC-rs7041 T/G基因频率分别为0.787和0.213,基因型频率分别为T/T0.685、T/G 0.284和G/G 0.071,Ho(0.284)、He(0.337)、PIC(0.279)、DP(0.502)、PE(0.140),基因型分布符合Hardy-Weinberg平衡。结论成功建立引物错配诱导酶切技术检测GC-rs7041单核苷酸多态性,该位点多态性有实际应用价值。 相似文献
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Gulden Onur Kondakci Ozlem Bulbul M. Saqib Shahzad Erdal Polat Huseyin Cakan Havva Altuncul Gonul Filoglu 《Forensic Science International: Genetics Supplement Series》2009,2(1):178-179
Importance of forensic entomology becomes inevitable when come across some incident where corpse is unidentifiable and lot of maggots or other insects are present. The most common application of forensic entomology is to use insects for the identification of specimens or human remains. DNA analysis recovered from a larva's gut contents can be used to identify a missing body. The obtained human STR and SNP profile support the association of a maggot to a specific patients or corpse. Main aim of this research was the identification of human DNA from gut contents of third instar maggots (larvae of Lucilia sericata) placed on diabetic patient's wounds for treatment purpose. Maggots (8–15) were taken from each diabetic patients (no. of the patients 8) and DNA was extracted from the gut contents manually by using Qiagen tissue protocol. Agarose gel electrophoresis was performed and the total size of DNA was seen using UV transilluminator. PCR amplification, STRs and SNPs profiling was then performed using PCR 9700 and AmpFLSTR Identifiler and SnaPshot Multiplex Kit (Applied Biosystems) respectively. The results were analyzed on ABI 310. SNP profiles were good and identifiable compared to the STRs where amplification was poor and the peaks were low. This may be the fact of the enzymatic activity present in the gut of the larvae which cause tremendous reduction in DNA size and thus yield. The results of this study reveals that it is possible to obtain a complete human profile using STRs and SNPs even if DNA is recovered from gut contents of maggots. 相似文献
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法医DNA分型经历了三代遗传标记的研究,短串联重复序列(short tandem repeat,STR)作为比较成熟的工具已被广泛运用于法医生物学鉴定中。进一步对人类基因组的探索,先后发现了单核苷酸多态性(single nucleotide polymorphism,SNP)、插入/缺失(Insertion/Deletion,InDel)等一系列遗传标记,而其中InDel作为新型的遗传标记,基本兼具各类遗传标记的优点,受到包括医学分子生物学和法医生物学在内各领域的广泛关注。本文就InDel的研究历史与相应的成果进行简单总结与回顾,以时间轴与研究目的为主要的分类指标,重点关注以多个InDel联合作为遗传标记的多重扩增系统(常染色体或X染色体)在法医生物学及人类学研究中的进展,并对今后该领域研究的方向与暨待解决的问题进行了综述。 相似文献
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In the field of forensic DNA typing, the analysis of Short Tandem Repeats (STRs) can fail in cases of degraded DNA. The typing of coding region Single Nucleotide Polymorphisms (SNPs) of the mitochondrial genome provides an approach to acquire additional information. In the examined case of aggravated theft, both suspects could be excluded of having left the analyzed hair on the crime scene by SNP typing. This conclusion was not possible subsequent to STR typing. SNP typing of the trace on the torch light left on the crime scene increased the likelihood for suspect no. 2 to be the origin of this trace. This finding was already indicated by STR analysis. Suspect no. 1 was excluded for being the origin of this trace by SNP typing which was also indicated by STR analysis. A limiting factor for the analysis of SNPs is the maternal inheritance of mitochondrial DNA. Individualisation is not possible. In conclusion, it can be said that in the case of traces which cause problems with conventional STR typing the supplementary analysis of coding region SNPs from the mitochondrial genome is very reasonable and greatly contributes to the refinement of analysis methods in the field of forensic genetics. 相似文献