亲权鉴定若干问题综述

对亲权鉴定中遗传标记的研究历史及现状进行了综述，并对国际法医遗传学会亲子鉴定委员会关于DNA生物计算的建议进行了解读。     

Perspective on the use of investigative genetic genealogy in Brazil

Since 2018, investigative genetic genealogy (IGG) has been used as a novel technology to solve cold cases. But IGG presents several ethical issues regarding privacy and regulation. IGG has never been used in Brazil although the number of direct-to-consumer (DTC) ancestry tests has been increasing and its users use open platforms in which IGG can be applied, such as GEDMatch, being susceptible to the same ethical problems as in those countries where IGG is being applied. We conducted an online survey with 166 clients of DTC ancestry tests (DTC) and 35 Brazilian CODIS Administrators (ADM) to evaluate their knowledge about the forensic application of genetic genealogy, their opinion about it, and a possible application in Brazil. Both groups support using IGG in violent crimes and missing persons (58.5% of DTC and 34.3% of ADM) but also showed concerns about the legislation and ethical issues (78.9–55.4% DTC and 97–65% ADM). Furthermore, 20% of ADM were against the use of this technique compared to the DTC (4%), probably due to the lack of knowledge of the methodology, its scope, and limitations. These results show the need to broaden the discussion on the IGG in various sectors of society.     

Significant association of TH01 allele 9.3 and SIDS

Sudden infant death syndrome (SIDS) constitutes a considerable percentage of infant death of unknown etiology. Individual catecholamine response variation is suspected to play a role in SIDS. TH01 is a tetrameric short tandem repeat marker in the tyrosine hydroxylase gene, which regulates gene expression and catecholamine production with allele 9.3 exerting a particularly strong effect on noradrenaline production. We investigated in an age-controlled study the TH01 allele frequencies in 127 cases of SIDS and 406 control cases to assess whether in SIDS cases a distinct TH01 allele distribution could be determined as has been reported by a previous study. We found that genotypes containing one or two 9.3 alleles were significantly more frequent in SIDS patients (58.2%) than in control subjects (48.4%, p=0.038), whereas all other alleles were more frequent in the control subjects. Our findings support the notion that there exists a significant association between TH01 gene configuration and SIDS.     

岫岩满族9个STR基因座遗传多态性

目的用复合荧光扩增体系调查辽宁鞍山岫岩满族无关个体D6S1043、D7S3048、D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470和GATA198B05等9个STR基因座的遗传多态性。方法用本实验室构建的9个常染色体STR基因座荧光复合扩增体系,对辽宁鞍山岫岩满族252个无关个体的DNA进行PCR扩增,3130型基因分析仪电泳检测扩增产物及等位基因分型标准物,GeneMapper誖3.2分析软件中导入本体系Panel和Bin,对电泳结果进行分析,按照重复序列重复次数命名等位基因,使用Power-StatsV12和GENEPOP软件进行统计学分析。结果 9个STR基因座在辽宁鞍山岫岩满族基因型频率分布均符合Hardy-Weinberg平衡(P﹥0.05),多态性信息含量在0.750～0.860之间,杂合度在0.794～0.881之间,个体识别力在0.918～0.968之间,非父排除概率在0.587～0.757之间,累积非父排除率为0.999 96,累积个体识别能力为0.999 999 999 999 1。结论这9个非CODIS系统STR基因座在鞍山岫岩满族群体中等...     

Evaluation of 96 SNPs in 14 populations for worldwide individual identification

Great advances have been made recently in searching for individual identification single-nucleotide polymorphisms (IISNPs or IDSNPs). Such SNPs as suggested by SNPforID scientists and by Pakstis et al., are promising, although they were selected from older or smaller databases rather than the most recent database. Here, we describe a new computational strategy for developing IDSNPs based on HapMap. We searched through HapMap r27 for SNPs having minor allele frequencies ≥0.30 in all its 11 populations and found more than 1881 qualified SNPs. We examined 96 of them with 183 DNA samples from three Chinese populations using Illumina arrays. The average allele frequency for these 96 SNPs among the three populations was 0.495/0.505, the average number of identical SNP genotypes shared by two individuals among the 14 populations (three Chinese and 11 HapMap) was 37.9, and the random matching probability for two unrelated Hans to match in all 96 genotypes was 9.793 × 10(-39). Thus, most of these 96 SNPs are universally applicable.     

STR melting curve analysis as a genetic screening tool for crime scene samples

In this proof-of-concept study, high-resolution melt curve (HRMC) analysis was investigated as a postquantification screening tool to discriminate human CSF1PO and THO1 genotypes amplified with mini-STR primers in the presence of SYBR Green or LCGreen Plus dyes. A total of 12 CSF1PO and 11 HUMTHO1 genotypes were analyzed on the LightScanner HR96 and LS-32 systems and were correctly differentiated based upon their respective melt profiles. Short STR amplicon melt curves were affected by repeat number, and single-source and mixed DNA samples were additionally differentiated by the formation of heteroduplexes. Melting curves were shown to be unique and reproducible from DNA quantities ranging from 20 to 0.4 ng and distinguished identical from nonidentical genotypes from DNA derived from different biological fluids and compromised samples. Thus, a method is described which can assess both the quantity and the possible probative value of samples without full genotyping.     

6个Y-STR荧光复合扩增系统的建立及应用

目的建立6个Y-STR荧光复合扩增体系,评价其法医学应用价值。方法设计DYS444,GATA-A7.2,GATA-A10,DYS390,GATA-A7.1,DYS443荧光复合扩增引物,扩增总体积20μL,内含模板DNA0.5～10ng,PCR产物用3130遗传分析仪电泳,GenemapperID v 3.2分析结果,根据等位基因标准命名各等位基因,并评价该系统的特异性、准确性、均衡性、灵敏度及对混合血样的分析能力。结果当dNTP、Mg2+分别为200μmol/L、1.5mmol/L时扩增效果最佳,0.5～10ngDNA模板量均能获得较好的扩增效果,各基因座分型结果清晰,扩增均衡,特异性强,重现性好,基本满足实际应用的性能要求。对湖北汉族群体进行遗传学调查,结果GD值0.580 3～0.722 3,共检出158种单倍型,其多样性为0.995 8。结论本文6个Y-STR扩增系统分型可靠,配合常用Y-STR分型试剂盒,可进一步提高个体识别能力。     

常染色体STR和X染色体STR联合应用于姑侄和叔侄关系鉴定

目的通过对常染色体STR和X染色体STR基因座进行分型检验,探讨姑侄、叔侄关系的鉴定策略。方法提取案例中被检女孩和另外3名个体（女性2名,疑为被检女孩的姑姑;男性1名,疑为被检女孩的叔父）的血样DNA,采用Goldeneye 20A系统和AGCU 21＋1系统分别进行常染色体STR基因座的复合PCR扩增,用Mentype○RArgus X-12试剂盒和本室自主研制的16重X染色体STR扩增体系分别进行X染色体STR基因座的复合PCR扩增,用3130 XL遗传分析仪进行毛细管电泳和基因型分析。结果依据常染色体STR基因型结果及姑侄、叔侄关系指数计算结果,不排除2名被检姑姑和与被检女性存在姑侄关系;不排除被检叔叔和与被检女性存在叔侄关系,X染色体STR分型结果支持此鉴定意见。结论对于姑侄、叔侄关系鉴定案例,X染色体STR基因座是常染色体STR基因座的良好补充,两者联合运用可获得可靠的鉴定意见。     

论我国遗传资源区域性补偿法律制度的构建

随着生物技术的迅猛发展,遗传资源的价值越来越突显出来。我国是世界上遗传资源最为丰富的国家之一,辽阔的地域、复杂的自然环境造就了极为丰富的动植物和微生物物种。目前我国的立法和国际公约、条约都未就遗传资源的具体保护模式作出明确的规定。根据遗传资源公共性、区域性的特点,我国应该建立一套以国家享有遗传资源经济主权为基础的区域性补偿与惠益分享制度,这样有利于鼓励遗传资源所在地区群众对遗传资源保护的积极性,有利于遗传资源的国际保护,也有利于西部等落后地区经济、社会的发展。     

建立绿色会计核算体系初探

目前我国正处在经济高速增长期,年GDP增长率9%-11%,同时又造成了严重的环境污染,土地大规模沙化,空气质量下降,长江、黄河等七大水系都遭受到了前所未有的污染。因此,对环境破坏进行成因分析,建立绿色会计体系,计价、计量自然环境,才能达到遏制环境污染的目的。