Allele frequencies of nine STR loci—D16S539, D7S820, D13S317, CSF1PO, TPOX, TH01, F13A01, FESFPS and vWA—in the population from Alagoas, northeastern Brazil

The polymorphism of nine STR loci has been studied in a sample of 598 individuals from the population of Alagoas, Northeastern Brazil. Determination of the allele frequencies as well as of several commonly used statistics in forensic and paternity testing were defined. The most polymorphic loci were TH01 and D7S317. The exact test demonstrated that the nine loci analyzed in the population have no deviation from Hardy–Weinberg equilibrium (P>0.05).     

22号染色体4个STR基因座的遗传多态性及连锁关系

目的 研究22号染色体上4个STR在中国成都汉族群体的分布,开发新的STR应用于法医学应用。方法 103份汉族无血缘关系的个体血样,及10个三代家系采自成都。用PCR技术分别对4个STR基因座进行扩增,所有基因座均采用非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳进行分型,银染。应用Linkage软件包的CILINK软件对4个基因座进行连锁分析。结果 通过4个STR的群体遗传学分析,D22S686、D22S533、D22S685和D22S445的个人识别率分别为0.875、0.913、0.923和0.84,它们的非父排除率分别为0.522、0.538、0.624和0.490。在家系调查中,发现D22S685存在一例突变。结论 这4个STR具有很好的多态性,可作为法医学个人识别和亲权鉴定新的候选遗传标记。     

广东广西地区5个群体9个STR基因座的频率调查

目的 调查广东汉族、广西汉族、广西侗族、广西壮族、广西苗族5个群体9个STR基因座多态性,探讨其在法医学检验中的应用价值。方法 应用AmpFISTR Profiler PlusTM荧光标记复合扩增系统,对广东广西5个群体4个民族的1191个无关个体的血样DNA进行9个STR基因座的复合扩增;用ABI 3100遗传分析仪对扩增产物进行分型,统计9个STR基因座的群体遗传学参数。结果 9个STR基因座在广东广西地区5个群体中的累积偶合率为1.51×10-11～8.08×10-11,累积非父排除率为0.99981—0.99990。,结论 该9个STR基因座可满足汉族、壮族、侗族、苗族群体法医学的个体识别及亲权鉴定的需要。     

Start-up of the criminal genetic database in Mendoza,Argentina

The usefulness of DNA databases is widely known and demonstrated. After the successful experiences of the UK and the USA the creation of databases increased rapidly around the world. In Latin America the implementation was slower and more problematic, with Chile and Uruguay being the first to implement them. In Argentina the problems were greater and more persistent.Although the lack of legislation or applicable laws is a generalized problem, the most difficult one to overcome was the lack of decision, interest and resources by those responsible at an institutional level.In 2016, Mendoza province modified its database law by creating the “Registro Provincial de Huellas Genéticas Digitalizadas” which allowed the process of construction and consolidation to begin. From January 2017 all prisoners, convicted and imputed of all types of crimes began to be sampled. This made the database to grow rapidly, reaching 13.821 samples in that year.During 2018, in addition to the daily imputed individuals, we began with the sampling from all the Mendoza Police Department, including the Scientific Police that deals with the crime scene. At present the database has a total of 40.652 individuals.In August 2018, the FBI's CODIS system was installed, and later the data loading process began. In 12 months we have reached 87 match or hits of which 46 correspond to sexual assault, 17 to robbery, 16 to homicides and the rest to other cases. Given that within the sexual abuse cases we were able to identify several serial sexual offenders, the 87 hits allowed clarifying 174 criminal cases.These results reaffirm the potential of the databases and gives a light of hope for victims of crime.In this work we present the advances and challenges that we faced in a chronological order.     

Population genetics of 25 Y-STR loci in Chinese Han population from Liaoning Province,Northeast China

In this study, we investigated the genetic characteristics of 25 Y-chromosomal short tandem repeat loci in 305 unrelated Chinese Han male individuals from Liaoning Province, using AmpFISTR® Yfiler® Plus amplification kit. A total of 293 different haplotypes were observed at the 25 Y-STR loci; among them, 281 were unique and 12 were occurred twice. The overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. The gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Population relationships between our data and other published populations were measured by Rst and visualized in two multi-dimensional scaling plots. The results showed that the 25 Y-STR loci in Liaoning Han population are valuable for forensic application and human genetics.     

基因决定论的伦理审视

基因决定论认为,基因决定有机个体性状,基因变异是疾病的根源,基因又是人类社会文化进化的决定力量。但基因决定论以线性因果模型说明整体与部分关系,对人类基因变异进行简化处理,将基因变异简化为对正常基因的偏离,并用简化的个体DNA序列来界定复杂的生物物种,从而构成了基因决定论的伦理困惑。从整体性出发,基因非决定论不再视基因为孤立单位,而将其置于非线性的"基因群"网络之中,通过基因与基因、基因与环境的相互作用来理解基因的多重功能。     

Genetic variation of high-altitude Ecuadorian population using autosomal STR markers

Fifteen autosomal STRs were analyze in order to elucidate the differences between low and high land Ecuadorian population. Seven Ecuadorian geographic areas (Tisaleo-Mocha, Cañar, Quito, Rocafuerte, Santa Rosa, Guayaquil and Lago Agrio) from different altitude were selected for the study. After the analysis, little genetic distances were observed between all cities, the more distant cities (F_ST = 0.02354) were Rocafuerte at an elevation of 17 m.a.s.l. and Quito at 2850 m.a.s.l. and the similar cities (F_ST = 0.00033) were Rocafuerte (17 m.a.s.l.) and Santa Rosa (10 m.a.s.l). In conclusion, there is not a great genetic distance in the 15 STRs reported in high and low land Ecuadorian population, therefore previously reported frequencies could been used in identification and paternity cases under analysis.     

Bioinformatics and genetic privacy: The impact of the Personal Data Protection Act 2010

Bioinformatics refers to the practise of creation and management of genetic data using computational and statistical techniques. In Malaysia, data obtained from genomic studies, particularly for the purpose of disease identification produces a tremendous amount of information related to molecular biology. These data are created from DNA samples obtained from diagnostic and research purposes in genomic research institutes in Malaysia. As these data are processed, stored, managed and profiled using computer applications, an issue arises as to whether the principles of personal data privacy would be applicable to these activities. This paper commences with an illustration of the salient features of the Personal Data Protection Act 2010. The second part analyses the impact of the newly passed Personal Data Protection Act 2010 on the collection of DNA sample, the processing of data obtained from it and the profiling of such data. The third part of the paper considers whether the various personal data protection principles are applicable to the act of DNA profiling and the creation of bioinformatics.     

Probabilistic expert systems for handling artifacts in complex DNA mixtures

This paper presents a coherent probabilistic framework for taking account of allelic dropout, stutter bands and silent alleles when interpreting STR DNA profiles from a mixture sample using peak size information arising from a PCR analysis. This information can be exploited for evaluating the evidential strength for a hypothesis that DNA from a particular person is present in the mixture. It extends an earlier Bayesian network approach that ignored such artifacts. We illustrate the use of the extended network on a published casework example.     

Allele frequencies for nine STR loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) in the Italian population

Genotype and allele frequencies for STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 were investigated in 289 unrelated Italian Caucasian individuals from the North and South regions. After co-amplification by polymerase chain reaction, automatic DNA profiling of these nine STR loci was performed by ABI PRISM((R)) 310 DNA Genetic Analyzer. For each locus, statistical parameters for forensic and paternity purposes were then calculated; the combined power of discrimination and the combined power of exclusion of all nine loci were 0.9999999999917 and 0.99992 for the Northern population and 0.9999999999921 and 0.99991 for the Southern population.