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Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2023.230409
飞 翔 王, 广 友 朱
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引用次数: 0
Application Progress of Objective Audiological Detection Techniques in Forensic Clinical Medicine. 客观听力学检测技术在法医临床医学中的应用进展。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2023.230406
Fei Fan, Juan Wu, Zhen-Hua Deng

The qualitative, quantitative, and localization analysis of hearing loss is one of the important contents of forensic clinical research and identification. Pure-tone audiometry is the "gold standard" for hearing loss assessment, but it is affected by the subjective cooperation of the assessed person. Due to the complexity of the auditory pathway and the diversity of hearing loss, the assessment of hearing loss requires the combination of various subjective and objective audiometric techniques, along with comprehensive evaluation based on the case situation, clinical symptoms, and other examinations to ensure the scientificity, accuracy and reliability of forensic hearing impairment assessment. Objective audiometry includes acoustic impedance, otoacoustic emission, and various auditory evoked potentials. The frequency-specific auditory brainstem response (ABR), 40 Hz auditory event related potential, and auditory steady-state response are commonly used for objective hearing threshold assessment. The combined application of acoustic impedance, otoacoustic emission and ABR can be used to locate hearing loss and determine whether it is located in the middle ear, cochlea, or posterior cochlea. This article reviews the application value of objective audiometry techniques in hearing threshold assessment and hearing loss localization, aiming to provide reference for forensic identification of hearing loss.

听力损失的定性、定量和定位分析是法医临床研究和鉴定的重要内容之一。纯音测听是听力损失评估的“金标准”,但它受到被评估者主观配合的影响。由于听觉通路的复杂性和听力损失的多样性,听力损失的评估需要结合各种主观和客观测听技术,并根据病例情况、临床症状和其他检查进行综合评估,以确保科学性,法医听力损害评估的准确性和可靠性。目的测听包括声阻抗、耳声发射和各种听觉诱发电位。频率特异性听觉脑干反应(ABR)、40Hz听觉事件相关电位和听觉稳态反应通常用于客观的听力阈值评估。声阻抗、耳声发射和ABR的联合应用可用于定位听力损失,并确定其是否位于中耳、耳蜗或后耳蜗。本文综述了客观测听技术在听力阈值评估和听力损失定位中的应用价值,旨在为听力损失的法医鉴定提供参考。
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引用次数: 0
Legal Theories, Disability Models and Principles of Disability Assessment. 残疾评估的法律理论、残疾模式和原则。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2023.230307
Xu Wang

In the personal injury compensation system, the protection and relief of the injured people's rights to life, rights to health, and body rights are generally based on the results of disability assessment. Over the years, with the increased number of personal injury compensation cases, the practice of disability assessment have been greatly developed, and the development of disability assessment standards tends to be mature. However, the lack of basic theories for disability assessment has seriously affected the construction and unification of standards. Starting from the tort legal system of personal injury compensation, this article systematically analyzes the legal theories of disability assessment, and holds that the loss of labor ability is the legal basis for disability assessment in China, and the essence of disability assessment should be understood as the quantitative assessment of an individual's permanent loss of labor ability. This article combines the international disability assessment models and the primary concepts of American Medical Association's Guides to the Evaluation of Permanent Impairment to refine the basic concepts of disability assessment in China, such as impairment, disability, handicap, disabled people and self-care ability, etc. At the same time, it sorts out the critical issues of identification time, promotion principles and compound calculation of multiple injuries in disability assessment. It is expected to be beneficial to the theory and practice of disability assessment in personal injury compensation.

在人身伤害赔偿制度中,对受伤人员的生命权、健康权和身体权的保护和救济通常基于残疾评估的结果。多年来,随着人身伤害赔偿案件的增多,残疾评估的实践得到了极大的发展,残疾评估标准的制定趋于成熟。然而,由于缺乏残疾评估的基本理论,严重影响了标准的构建和统一。本文从人身损害赔偿侵权法律制度入手,系统分析了伤残评估的法律理论,认为丧失劳动能力是我国伤残评估的法定依据,伤残评估的实质应理解为对个人永久丧失劳动能力的定量评估。本文结合国际残疾评估模型和美国医学会《永久性损伤评估指南》的基本概念,提炼了我国残疾评估的基本概念:损伤、残疾、残障、残疾人和自我护理能力等,对伤残评定中的鉴定时间、晋升原则、多发伤复合计算等关键问题进行了梳理。希望对伤残评估在人身损害赔偿中的理论和实践有所裨益。
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引用次数: 0
The Value of VR-PVEP in Objective Evaluation of Monocular Refractive Visual Impairment. VR-PVEP在客观评价单眼屈光性视力损害中的价值。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2022.220610
Hong-Xia Hao, Jie-Min Chen, Rong-Rong Wang, Xiao-Ying Yu, Meng Wang, Zhi-Lu Zhou, Yan-Liang Sheng, Wen-Tao Xia

Objectives: To study the virtual reality-pattern visual evoked potential (VR-PVEP) P100 waveform characteristics of monocular visual impairment with different impaired degrees under simultaneous binocular perception and monocular stimulations.

Methods: A total of 55 young volunteers with normal vision (using decimal recording method, far vision ≥0.8 and near vision ≥0.5) were selected to simulate three groups of monocular refractive visual impairment by interpolation method. The sum of near and far vision ≤0.2 was Group A, the severe visual impairment group; the sum of near and far vision <0.8 was Group B, the moderate visual impairment group; and the sum of near and far vision ≥0.8 was Group C, the mild visual impairment group. The volunteers' binocular normal visions were set as the control group. The VR-PVEP P100 peak times measured by simultaneous binocular perception and monocular stimulation were compared at four spatial frequencies 16×16, 24×24, 32×32 and 64×64.

Results: In Group A, the differences between P100 peak times of simulant visual impairment eyes and simultaneous binocular perception at 24×24, 32×32 and 64×64 spatial frequencies were statistically significant (P<0.05); and the P100 peak time of normal vision eyes at 64×64 spatial frequency was significantly different from the simulant visual impairment eyes (P<0.05). In Group B, the differences between P100 peak times of simulant visual impairment eyes and simultaneous binocular perception at 16×16, 24×24 and 64×64 spatial frequencies were statistically significant (P<0.05); and the P100 peak time of normal vision eyes at 64×64 spatial frequency was significantly different from the simulant visual impairment eyes (P<0.05). In Group C, there was no significant difference between P100 peak times of simulant visual impairment eyes and simultaneous binocular perception at all spatial frequencies (P>0.05). There was no significant difference in the P100 peak times measured at all spatial frequencies between simulant visual impairment eyes and simultaneous binocular perception in the control group (P>0.05).

Conclusions: VR-PVEP can be used for visual acuity evaluation of patients with severe and moderate monocular visual impairment, which can reflect the visual impairment degree caused by ametropia. VR-PVEP has application value in the objective evaluation of visual function and forensic clinical identification.

目的:研究在双眼感知和单眼刺激下不同程度单眼视觉损伤的虚拟现实模式视觉诱发电位(VR-PVEP)P100波形特征。方法:选择55名视力正常(采用十进制记录法,远视≥0.8,近视≥0.5)的青年志愿者,采用插值法模拟三组单眼屈光性视力障碍。近视和远视之和≤0.2为A组,为严重视力损害组;结果:A组24×,32×32和64×64空间频率具有统计学意义(PPPPP>0.05)。对照组模拟视力受损眼在所有空间频率下测得的P100峰值时间与同时双眼感知无显著差异(P>0.05)。结论:VR-PVEP可用于重度和中度单眼患者的视力评估视觉损伤,可以反映屈光不正引起的视觉损伤程度。VR-PVEP在客观评价视觉功能和法医临床鉴定方面具有应用价值。
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引用次数: 0
Objective Assessment of Visual Field Defects Caused by Optic Chiasm and Its Posterior Visual Pathway Injury. 目的评价视交叉及其后视觉通路损伤引起的视野缺损。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2023.230309
Jian Xiang, Xu Wang, Li-Li Yu, Kang-Jia Jin, Ying-Kai Yang

Objectives: To investigate the characteristics and objective assessment method of visual field defects caused by optic chiasm and its posterior visual pathway injury.

Methods: Typical cases of visual field defects caused by injuries to the optic chiasm, optic tracts, optic radiations, and visual cortex were selected. Visual field examinations, visual evoked potential (VEP) and multifocal visual evolved potential (mfVEP) measurements, craniocerebral CT/MRI, and retinal optical coherence tomography (OCT) were performed, respectively, and the aforementioned visual electrophysiological and neuroimaging indicators were analyzed comprehensively.

Results: The electrophysiological manifestations of visual field defects caused by optic chiasm injuries were bitemporal hemianopsia mfVEP abnormalities. The visual field defects caused by optic tract, optic radiation, and visual cortex injuries were all manifested homonymous hemianopsia mfVEP abnormalities contralateral to the lesion. Mild relative afferent pupil disorder (RAPD) and characteristic optic nerve atrophy were observed in hemianopsia patients with optic tract injuries, but not in patients with optic radiation or visual cortex injuries. Neuroimaging could provide morphological evidence of damages to the optic chiasm and its posterior visual pathway.

Conclusions: Visual field defects caused by optic chiasm, optic tract, optic radiation, and visual cortex injuries have their respective characteristics. The combined application of mfVEP and static visual field measurements, in combination with neuroimaging, can maximize the assessment of the location and degree of visual pathway damage, providing an effective scheme for the identification of such injuries.

目的:探讨视交叉及其后视觉通路损伤引起的视野缺损的特点及客观评价方法。方法:选择典型的视交叉、视束、视辐射和视皮层损伤引起的视野缺损病例。分别进行视野检查、视觉诱发电位(VEP)和多焦视觉进化电位(mfVEP)测量、颅脑CT/MRI和视网膜光学相干断层扫描(OCT),并对上述视觉电生理和神经影像学指标进行综合分析。结果:视交叉损伤引起的视野缺损的电生理表现为双颞侧偏盲mfVEP异常。视束、视辐射和视皮层损伤引起的视野缺损均表现为病变对侧的同侧偏盲mfVEP异常。在视束损伤的偏盲患者中观察到轻度相对传入瞳孔障碍(RAPD)和特征性视神经萎缩,但在视辐射或视皮层损伤的患者中没有观察到。神经影像学可以提供视交叉及其后视觉通路损伤的形态学证据。结论:视交叉、视束、视辐射和视皮层损伤引起的视野缺损各有特点。mfVEP和静态视野测量的结合应用,再加上神经成像,可以最大限度地评估视觉通路损伤的位置和程度,为识别此类损伤提供有效的方案。
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引用次数: 0
[Death of brain stem hemorrhage after trauma in patients with hepatolenticular degeneration: A case report]. [肝豆状核变性患者外伤后脑干出血死亡一例报告]。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2022.420409
泽 伟 姚, 自 发 贾, 铭 菲 韦, 俊 展 史, 凡 李
雷某,男,32岁,被人殴打后昏迷,次日入某市第一人民医院就诊。监控视频资料显示,雷某被踢中枕部后立即昏迷,顶部和枕部受到多次打击。病史资料反映:患者1 d前被他人打伤,伤及头部致昏迷,无恶心、呕吐、抽搐以及大小便失禁,具体昏迷时间不详,清醒后自觉头痛、头晕,遂入院就诊。急诊CT提示脑干出血。既往确诊肝豆状核变性8年,治疗效果不明确,除言语不利外无其他症状。诊断:脑干出血,肝豆状核变性。入院后3 d进行凝血功能检查:凝血酶原时间16.40 s↑(参考值11.00~13.00 s),凝血酶时间18.70 s↑(参考值16.00~18.00 s);肝功能检查:丙氨酸转氨酶38 U/L(参考值0~40 U/L),天冬氨酸转氨酶69 U/L↑(参考值0~40 U/L),白蛋白28.50 g/L↓(参考值35.00~51.00 g/L)。住院期间予止血、抗感染、降颅压等对症治疗,后出现意识不清、肺部感染无法控制、凝血异常、肠麻痹、低蛋白血症、水电解质紊乱等。入院后47 d行肝功能检查:丙氨酸转氨酶44 U/L↑,天冬氨酸转氨酶57 U/L↑,白蛋白27.00 g/L↓,总胆红素98.40 µmol/L↑(参考值5.13~22.24 μmol/L),纤维蛋白原0.48 g/L↓(参考值2.00~4.00 g/L)。入院后48 d心搏骤停死亡。.
{"title":"[Death of brain stem hemorrhage after trauma in patients with hepatolenticular degeneration: A case report].","authors":"泽 伟 姚,&nbsp;自 发 贾,&nbsp;铭 菲 韦,&nbsp;俊 展 史,&nbsp;凡 李","doi":"10.12116/j.issn.1004-5619.2022.420409","DOIUrl":"10.12116/j.issn.1004-5619.2022.420409","url":null,"abstract":"雷某,男,32岁,被人殴打后昏迷,次日入某市第一人民医院就诊。监控视频资料显示,雷某被踢中枕部后立即昏迷,顶部和枕部受到多次打击。病史资料反映:患者1 d前被他人打伤,伤及头部致昏迷,无恶心、呕吐、抽搐以及大小便失禁,具体昏迷时间不详,清醒后自觉头痛、头晕,遂入院就诊。急诊CT提示脑干出血。既往确诊肝豆状核变性8年,治疗效果不明确,除言语不利外无其他症状。诊断:脑干出血,肝豆状核变性。入院后3 d进行凝血功能检查:凝血酶原时间16.40 s↑(参考值11.00~13.00 s),凝血酶时间18.70 s↑(参考值16.00~18.00 s);肝功能检查:丙氨酸转氨酶38 U/L(参考值0~40 U/L),天冬氨酸转氨酶69 U/L↑(参考值0~40 U/L),白蛋白28.50 g/L↓(参考值35.00~51.00 g/L)。住院期间予止血、抗感染、降颅压等对症治疗,后出现意识不清、肺部感染无法控制、凝血异常、肠麻痹、低蛋白血症、水电解质紊乱等。入院后47 d行肝功能检查:丙氨酸转氨酶44 U/L↑,天冬氨酸转氨酶57 U/L↑,白蛋白27.00 g/L↓,总胆红素98.40 µmol/L↑(参考值5.13~22.24 μmol/L),纤维蛋白原0.48 g/L↓(参考值2.00~4.00 g/L)。入院后48 d心搏骤停死亡。.","PeriodicalId":12317,"journal":{"name":"法医学杂志","volume":"39 4","pages":"419-421"},"PeriodicalIF":0.0,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49676125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Detection of fluoroacetic acid using liquid chromatography-tandem mass spectrometry: A case report]. [用液相色谱-串联质谱法检测氟乙酸:一例报告]。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2021.311102
爱 英 宋, 翌 博 赵, 利 君 杨
某年11月,李甲(男,5岁)和李乙(男,3个月)被母亲张某杀害。经调查,嫌疑人张某患有严重的产后抑郁症,将购买的“溴鼠灵”(玫红色液体,原装于黄色药瓶中)加入瓶装饮料中,骗其子李甲喝下,并用被子捂住其子李乙的口鼻。事后张某服用“溴鼠灵”,出现严重的呕吐症状。3人被家人发现后送医院抢救,李甲和李乙送到医院时均已死亡,张某经抢救后病情稳定。.
{"title":"[Detection of fluoroacetic acid using liquid chromatography-tandem mass spectrometry: A case report].","authors":"爱 英 宋,&nbsp;翌 博 赵,&nbsp;利 君 杨","doi":"10.12116/j.issn.1004-5619.2021.311102","DOIUrl":"10.12116/j.issn.1004-5619.2021.311102","url":null,"abstract":"某年11月,李甲(男,5岁)和李乙(男,3个月)被母亲张某杀害。经调查,嫌疑人张某患有严重的产后抑郁症,将购买的“溴鼠灵”(玫红色液体,原装于黄色药瓶中)加入瓶装饮料中,骗其子李甲喝下,并用被子捂住其子李乙的口鼻。事后张某服用“溴鼠灵”,出现严重的呕吐症状。3人被家人发现后送医院抢救,李甲和李乙送到医院时均已死亡,张某经抢救后病情稳定。.","PeriodicalId":12317,"journal":{"name":"法医学杂志","volume":"39 4","pages":"428-430"},"PeriodicalIF":0.0,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49676127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metabonomics Analysis of Brain Stem Tissue in Rats with Primary Brain Stem Injury Caused Death. 原发性脑干损伤致死大鼠脑干组织的代谢组学分析。
Q3 Medicine Pub Date : 2023-08-25 DOI: 10.12116/j.issn.1004-5619.2022.420510
Qin Su, Qian-Ling Chen, Wei-Bin Wu, Qing-Qing Xiang, Cheng-Liang Yang, Dong-Fang Qiao, Zhi-Gang Li

Objectives: To explore the potential biomarkers for the diagnosis of primary brain stem injury (PBSI) by using metabonomics method to observe the changes of metabolites in rats with PBSI caused death.

Methods: PBSI, non-brain stem brain injury and decapitation rat models were established, and metabolic maps of brain stem were obtained by LC-MS metabonomics method and annotated to the HMDB database. Partial least square-discriminant analysis (PLS-DA) and random forest methods were used to screen potential biomarkers associated with PBSI diagnosis.

Results: Eighty-six potential metabolic markers associated with PBSI were screened by PLS-DA. They were modeled and predicted by random forest algorithm with an accuracy rate of 83.3%. The 818 metabolic markers annotated to HMDB database were used for random forest modeling and prediction, and the accuracy rate was 88.9%. According to the importance in the identification of cause of death, the most important metabolic markers that were significantly up-regulated in PBSI group were HMDB0038126 (genipinic acid, GA), HMDB0013272 (N-lauroylglycine), HMDB0005199 [(R)-salsolinol] and HMDB0013645 (N,N-dimethylsphingosine).

Conclusions: GA, N-lauroylglycine, (R)-salsolinol and N,N-dimethylsphingosine are expected to be important metabolite indicators in the diagnosis of PBSI caused death, thus providing clues for forensic medicine practice.

目的:应用代谢组学方法观察原发性脑干损伤死亡大鼠代谢产物的变化,探讨诊断原发性脑损伤的潜在生物标志物。方法:建立PBSI、非脑干脑损伤和斩首大鼠模型,采用LC-MS代谢组学方法获得脑干代谢图谱,并在HMDB数据库中进行注释。偏最小二乘判别分析(PLS-DA)和随机森林方法用于筛选与PBSI诊断相关的潜在生物标志物。结果:PLS-DA筛选出86个与PBSI相关的潜在代谢标志物。采用随机森林算法对其进行建模和预测,准确率为83.3%。HMDB数据库中注释的818个代谢标志物用于随机森林建模和预测的准确率为88.9%。根据其在死因识别中的重要性,在PBSI组中显著上调的最重要的代谢标志物是HMDB0038126(genipinic acid,GA)、HMDB0013272(N-月桂酰甘氨酸)、HMDB 0005199[(R)-沙索醇]和HMDB0013645(N,N-二甲基鞘氨醇),从而为法医学实践提供线索。
{"title":"Metabonomics Analysis of Brain Stem Tissue in Rats with Primary Brain Stem Injury Caused Death.","authors":"Qin Su,&nbsp;Qian-Ling Chen,&nbsp;Wei-Bin Wu,&nbsp;Qing-Qing Xiang,&nbsp;Cheng-Liang Yang,&nbsp;Dong-Fang Qiao,&nbsp;Zhi-Gang Li","doi":"10.12116/j.issn.1004-5619.2022.420510","DOIUrl":"10.12116/j.issn.1004-5619.2022.420510","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the potential biomarkers for the diagnosis of primary brain stem injury (PBSI) by using metabonomics method to observe the changes of metabolites in rats with PBSI caused death.</p><p><strong>Methods: </strong>PBSI, non-brain stem brain injury and decapitation rat models were established, and metabolic maps of brain stem were obtained by LC-MS metabonomics method and annotated to the HMDB database. Partial least square-discriminant analysis (PLS-DA) and random forest methods were used to screen potential biomarkers associated with PBSI diagnosis.</p><p><strong>Results: </strong>Eighty-six potential metabolic markers associated with PBSI were screened by PLS-DA. They were modeled and predicted by random forest algorithm with an accuracy rate of 83.3%. The 818 metabolic markers annotated to HMDB database were used for random forest modeling and prediction, and the accuracy rate was 88.9%. According to the importance in the identification of cause of death, the most important metabolic markers that were significantly up-regulated in PBSI group were HMDB0038126 (genipinic acid, GA), HMDB0013272 (<i>N</i>-lauroylglycine), HMDB0005199 [(<i>R</i>)-salsolinol] and HMDB0013645 (<i>N</i>,<i>N</i>-dimethylsphingosine).</p><p><strong>Conclusions: </strong>GA, <i>N</i>-lauroylglycine, (<i>R</i>)-salsolinol and <i>N</i>,<i>N</i>-dimethylsphingosine are expected to be important metabolite indicators in the diagnosis of PBSI caused death, thus providing clues for forensic medicine practice.</p>","PeriodicalId":12317,"journal":{"name":"法医学杂志","volume":"39 4","pages":"373-381"},"PeriodicalIF":0.0,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49676133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Application of Microhaplotypes in Sibling Kinship Testing. 微单倍型在兄弟亲缘关系检测中的应用。
Q3 Medicine Pub Date : 2023-06-25 DOI: 10.12116/j.issn.1004-5619.2023.530101
Xuan Tang, Dan Wen, Chu-Dong Wang, Ru-Yi Xu, Hong-Tao Jia, Jie-Nan Li, Bai-Yi-la Zhalaga

Objectives: To investigate the efficacy of different numbers of microhaplotype (MH) loci and the introduction of different reference samples on the identification of full sibling, half sibling and differentiation between full sibling and half sibling kinships, and to explore the effect of changing mutation rate on sibling testing.

Methods: First, a family map involving three generations was established, and four full sibling identification models, five half sibling identification models and five models distinguishing full and half siblings were constructed for different reference samples introduced. Based on the results of the previous study, two sets of nonbinary SNP-MH containing 34 and 54 loci were selected. Based on the above MH loci, 100 000 pairs of full sibling vs. unrelated individuals, 100 000 pairs of half sibling vs. unrelated individuals and 100 000 pairs of full sibling vs. half sibling were simulated based on the corresponding sibling kinship testing models, and the efficacy of each sibling kinship testing model was analyzed by the likelihood ratio algorithm under different thresholds. The mutant rate of 54 MH loci was changed to analyze the effect of mutation rate on sibling identification.

Results: In the same relationship testing model, the systematic efficacy of sibling testing was positively correlated with the number of MH loci detected. With the same number of MH loci, the efficacy of full sibling testing was better than that of uncle or grandfather when the reference sample introduced was a full sibling of A, but there was no significant difference in the identification efficacy of the four reference samples introduced for full sibling and half sibling differentiation testing. In addition, the mutation rate had a slight effect on the efficacy of sibling kinship testing.

Conclusions: Increasing the number of MH loci and introducing reference samples of known relatives can increase the efficacy of full sibling testing, half sibling testing, and differentiation between full and half sibling kinships. The level of mutation rate in sibling testing by likelihood ratio method has a slight but insignificant effect on the efficacy.

目的:探讨不同数量的微单倍型(MH)位点和不同参考样本的引入对全同胞、半同胞和半同胞亲属关系的鉴别效果,并探讨突变率的变化对同胞检测的影响。方法:首先建立三代家族图谱,针对引入的不同参考样本构建4个全同胞识别模型、5个半同胞识别模型和5个全同胞和半同胞识别模型。在前人研究的基础上,选择了两组包含34个位点和54个位点的非二元SNP-MH。基于上述MH位点,分别对10万对全同胞同胞与无亲缘关系个体、10万对半同胞同胞与无亲缘关系个体、10万对全同胞同胞与半同胞同胞的亲属关系检测模型进行模拟,并采用不同阈值下的似然比算法对各手足亲属关系检测模型的有效性进行分析。改变54个MH位点的突变率,分析突变率对兄弟姐妹鉴定的影响。结果:在相同的关系检验模型中,兄弟姐妹检验的系统有效性与MH位点的检测数量呈正相关。在相同MH位点数的情况下,当引入的参考样本为a的全兄弟姐妹时,全兄弟姐妹鉴定的效果优于舅舅或祖父鉴定,但在全兄弟姐妹和半兄弟姐妹分化鉴定中,引入的4个参考样本的鉴定效果无显著差异。此外,突变率对兄弟姐妹亲属关系检测的效果有轻微影响。结论:增加MH基因座数量,引入已知亲属的参考样本,可提高全兄弟姐妹检测、半兄弟姐妹检测、全兄弟姐妹与半兄弟姐妹亲属关系鉴别的有效性。似然比法兄弟姐妹检测的突变率水平对疗效影响不大,但不显著。
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引用次数: 0
Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference. 家族Y-STR单倍型错配耐受性在家谱推断中的应用。
Q3 Medicine Pub Date : 2023-06-25 DOI: 10.12116/j.issn.1004-5619.2022.520602
Meng-Jie Tong, Ke Zhang, Cai-Xia Li, Guang-Feng Zhang, Wen-Jie Zhang, Lan Yang, Qing-Tang Hou, Jing Liu

Objectives: 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:研究中国汉族男性家系Y-STR基因座的错配耐受性分布,为家谱推断和家系调查提供指导。方法:选择3个亲缘关系明确的汉族世系。使用YFiler Platinum PCR扩增试剂盒获得男性样本35个Y-STR基因座的分型数据。统计分析Y-STR单倍型世代遗传变异和1 ~ 7个亲缘关系水平的错配耐受性。结果:Y-STR突变具有家族特异性,在不同谱系中具有不同的突变位点和突变数量。66.03%的突变发生在快速和快速突变位点上。在1 ~ 7亲缘关系水平上,35个Y-STR基因座的错配耐受性数量在0 ~ 5之间,最大步长为6。在中、慢突变位点上,错配容忍度为0 ~ 2,最大步长为3;在快速和快速突变位点上,错配耐受性的数量为0 ~ 3,最大步长为6。结论:结合SNP家谱推断和Y-STR谱系调查,需要考虑0和多重错配耐受性。所有35个Y-STR基因座的错配容忍度均为0-3,中速和慢速基因座的错配容忍度均为0-1的家族血统可优先筛选。当容忍错配的数目符合条件时,应小心地排除长步长的家族血统。同时,添加快速突变位点也要谨慎处理。
{"title":"Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference.","authors":"Meng-Jie Tong,&nbsp;Ke Zhang,&nbsp;Cai-Xia Li,&nbsp;Guang-Feng Zhang,&nbsp;Wen-Jie Zhang,&nbsp;Lan Yang,&nbsp;Qing-Tang Hou,&nbsp;Jing Liu","doi":"10.12116/j.issn.1004-5619.2022.520602","DOIUrl":"https://doi.org/10.12116/j.issn.1004-5619.2022.520602","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":12317,"journal":{"name":"法医学杂志","volume":"39 3","pages":"296-304"},"PeriodicalIF":0.0,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9908668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
法医学杂志
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