Stain analysis using oligonucleotide probes specific for simple repetitive DNA sequences

The use of oligonucleotide fingerprinting is evaluated in practical forensic work, using both artificially and systematically produced stains as well as actual case work material. The probes (CAC5/(GTG)5 are superior because of their individualizing potential in comparatively fresh specimens with little DNA degradation, whereas (GACA)4, still produces substantial information when high molecular weight DNA is lacking. The overall limitations and the advantages of this technology are discussed in detail and compared to the classical minisatellite probes.     

Comparison of fingernail striation patterns in identical twins.

The fingernail ridge patterns of a pair of identical twins were compared to each other, their parents, and an unrelated subject. The patterns of the twins' nails showed regions of strong similarity but were distinguishable from one another. Fewer similarities were found when comparing the nails to those of the parents and the unrelated control. The twins were shown to be monozygotic by means of DNA profiling. This therefore represents the first demonstration of unique fingernail ridge patterns in subjects shown conclusively to be identical twins. When the fingernail ridge patterns were examined with a scanning electron microscope, the backscattered electron (BEI) images were found to have superior contrast when compared to the secondary electron (SEI) images.     

同卵双生子外周血DNA甲基化谱的差异

目的通过比较不同个体外周血DNA甲基化谱的差异,评估DNA甲基化在同卵双生子个体甄别中的应用价值。方法在知情同意基础上获得22对同卵双生子外周血样。抽提基因组DNA后进行重亚硫酸盐转化．采用Illuraina公司的人27k甲基化微珠芯片检测基因组27578个CpG位点的甲基化程度（启值）。依据常染色体CpG位点的序值,采用欧氏距离计算方法计算同卵双生子间以及同性男ll的无关个体间的表观遗传距离。比较同卵双生子对与无关个体对两组不同人群间的表观遗传距离差异。结果同卵双生子对人群以及无关个体对人群中的男性个体对与女性个体对的表观遗传距离差异均无统计学意义（P值分别为0．0695和0．4825）。同卵双生子对的表观遗传距离显著低于无关个体对人群（中位数：6．02νs7．20,P=0．0002）．但两组人群的表观遗传距离均显著大于4．00（P〈0．0001）。结论同卵双生子间的外周血DNA甲基化谱差异显著．DNA甲基化是进行同卵双生子个体甄别的有效生物学标记。     

Oligonucleotide fingerprinting using (GTG)5 and (GACA)4 probes for the differentiation of body fragments

For the detection of postmortem stability of DNA and for the identification of parts of dead bodies of unknown origin the oligonucleotide probes (GTG)5 and (GACA)4 can be used. (GTG)5 is a highly discriminating probe which allows to differentiate in the 4 to 25 kilobase range of DNA fragments. DNA fingerprints obtained by (GACA)4 show useful results especially in the short fragment range. The (GACA)4 probe can therefore be used to analyze partially degraded DNA.     

Polymorphism of the third component (C3) of complement and of Transferrin (Tf) in Belgium.

The phenotypes of C3 and of Tf were determined in 818 and 576, respectively, unrelated individuals living in Liege. The gene frequencies observed are: (formula: see text) The application to disputed paternity cases and to the study of twins is discussed.     

IBD法在堂表亲缘关系鉴定中的应用

目的使用血缘一致性(identity by descent,IBD)法计算堂表亲缘关系的堂表关系指数(first cousin index,FCI)和累积堂表关系指数(combined first cousin index,CFCI),为IBD法鉴定两个个体是否具有堂表亲缘关系提供科学手段。方法取124对堂表兄弟姐妹和186对无亲缘关系个体的口腔拭子,检验每人18个常染色体STR基因座的等位基因,用IBD法计算堂表对和无关个体对的FCI和CFCI,并用判别分析的方法对两组样本的FCI和CFCI计算结果进行分析。结果 CFCI在堂表对和无关个体对中的频率分布呈偏正态分布,前者的平均值和标准差为11.864和21.678,后者为0.605和0.988,两者具有显著差异。以CFCI/(CFCI+1)≥0.6为标准,堂表对和无关个体对判别准确率为88.387%;依据各常STR基因座的FCI计算结果建立判别方程,多元判别方程和多元逐步判别方程的判别准确率分别为92.258%和91.935%。结论用IBD法和依据IBD建立的判别分析法可以用于堂表亲缘关系的筛选。     

SIBLING INTERACTION AND SELFREPORTED DELINQUENT BEHAVIOR: A STUDY OF 265 TWIN PAIRS*

The relationship between the quality of twins’mutual attachment and delinquency is examined in a study of 265 twin pairs. It is predicted that twins with stronger mutual attachments will have lower rates of delinquent behavior. Contrary to this prediction, twins’mutual attachment (that is, the frequency with which the twins saw each other in teenage activities) is found to be unrelated to delinquent behavior. The twins often cooperated, however, in their delinquent acts: 61 % of the girls and 79% of the boys reported committing one or more delinquent acts with their twins. In accord with social control theory, social bonds (normlessness, perceived parental acceptance-rejection, and value placed on academic achievement) are strongly associated with delinquent behavior. Except for male DZ twins, however, these same variables are only weakly associated with twins’mutual attachments. A behavioral genetic analysis of the social bonds indicate both genetic and specific environmental components to their variation but fail to show evidence of a shared environmental component. Implications of these findings are discussed.     

应用HID Ion GeneStudioTM S5测序系统探讨毛干样本线粒体DNA异质性

目的应用HID Ion GeneStudio^TM S5测序系统对毛干样本线粒体全基因组分型结果的异质性进行探讨。方法采集8名无关个体的口腔拭子、血液及同一个体不同部位毛干样本,使用Precision ID mtDNA Whole Genome Panel对线粒体全基因组进行扩增,应用HID Ion GeneStudio^TM S5测序系统对线粒体全基因组进行分析检测。结果2名个体的颞部毛干样本线粒体DNA出现异质性,其余6名无关个体的口腔拭子、血液及不同部位毛干样本的线粒体全基因组分型结果均一致。8名无关个体共观察到119个碱基变异,个体的变异位点数目分别为29、40、38、35、13、36、40和35。结论应用HID Ion GeneStudio^TM S5测序系统可全面了解序列多态性。     

Population data of nine STR loci,D3S1358, vWA,FGA, TH01, TPOX,CSF1PO,D5S818, D13S317 and D7S820, in Bangladeshis and Indonesians

Allele frequencies of nine short tandem repeat (STR) loci, D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317 and D7S820, were determined for 127 unrelated Bangladeshi individuals and 105 unrelated Indonesian individuals using the AmpFLSTR Profiler Kit. The genotype frequency distributions of the nine STR loci were in the Hardy-Weinberg equilibrium for both populations.     

Genetic data on eight STRs (D5S818, D7S820, F13B,LPL, TH01, TPOX,VWA31, CSF1PO) from a Colombian population

Allele frequencies for eight short tandem repeats (STRs) (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31 and CSF1PO) were estimated from a sample of 155 unrelated individuals living in different departments of the southwest of Colombia, Caquetá, Cauca, Huila, Nari?o, Putumayo and Cauca Valley.     

济南汉族群体5个Y-SNP位点的多态性分析

目的 探讨济南汉族群体5个Y-SNP位点的多态性并评价其在法医学中的应用.方法 采用片段长度差异等位基因特异性PCR(fragment length difference allele specific PCR,FLDAS-PCR)对济南汉族群体共103名男性无关个体5个Y-SNP标记(M89、M9、M122、M134...     

Phencyclidine: a 5-year retrospective review from the New York City Medical Examiner's Office

We report here a 5-year retrospective review of autopsy cases from the New York City Medical Examiner's Office that demonstrated phencyclidine (PCP) in the blood. There were a total of 138 cases. There were 52 deaths because of mixed drug intoxication: the blood PCP concentrations in these cases ranged from <1 to 598 ng/mL. There were 80 violent deaths in which PCP was quantified in the blood but was unrelated to the cause of death. There were five nonviolent deaths in which PCP exclusively was detected. In four of these, there were preexisting medical conditions that could also have contributed to death. In these, the highest PCP concentration was 361.3 ng/mL, a concentration lower than seven of the individuals in our violent death category. This suggests that lower concentrations may be fatal with comorbid conditions.     

Polymorphisms of eight STR loci in Chinese and African (Xhosa)populations

Allele frequencies for eight short tandem repeal loci (D16S539, D7S820, D13S317, D5S818, CSF1PO, TPOX, TH01 and vWA) were obtained from samples of 100 Chinese and 96 African (Xhosa) unrelated individuals.     

Hypervariable regions of DNA for parentage testing and individual identification

Four kinds of DNA probes that recognize hypervariable regions (HVR) were studied for parentage testing and individual identification. Allele frequencies and their confidence intervals among unrelated Japanese individuals were obtained. Codominant segregation of the polymorphism was confirmed in family studies. Two a priori probabilities were calculated for each HVR locus: the exclusion probabilities for an alleged father/mother/child trio and for an alleged parent/child duo, and the probabilities of matching of genotypes of two unrelated individuals or two siblings. The ease of availability of the probes and their highly discriminating polymorphic patterns mean they could be very useful for forensic purposes.     

STR data (AmpFlSTR profiler plus) from north Portugal

Allele frequencies for the nine STRs included in the AmpFlSTR Profiler Plus kit (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) were estimated from a sample of 365-427 unrelated individuals born in north Portugal.     

STR data (AmpFlSTR Profiler Plus and GenePrint CTTv) from Mozambique

Allele frequencies for twelve STRs included in the AmpFlSTR Profiler Plus kit (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) and GenePrint CTTv kit (VWA, TH01, TPO and CSF1PO) were estimated from a sample of 110 unrelated individuals from Mozambique.     

STR data for 09 autosomal STR markers from Rio Grande do Sul (southern Brazil)

Allele frequencies for 09 STR autosomal loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA and VWA) included in the AmpFlSTR Profiler Plus were obtained from a sample of unrelated individuals from Rio Grande do Sul (southern Brazil).     

Genetic data of 9 STR loci from Henan Province (central China)

Allele frequencies of the nine short tandem repeats (STR) loci D8S1179, D21S11, D18S51, D5S818, D3S1358, D7S820, vWA, FGA (AmpFlSTR Profiler Plus) were determined in a population sample of unrelated individuals living in central China.     

中国5个民族mtDNA(CA)n重复的多态性

目的 探讨中国维族、汉族、黎族、瑶族、藏族mtDNA 514-523位置(CA)n重复遗传多态性。方法应用自行设计的引物对维族、汉族、黎族、瑶族各100名无关个体及42名藏族无关个体进行直接测序。结果 维族人群发现5种等位基因,黎族4种,瑶族3种,而汉族、藏族只观察到两种等位基因。结论 五个民族间mtDNA(CA)_n重复次数存在差异,与国外其他人群相比也有差异。     

华东地区汉族人群D2S1399和D5S2500基因座的遗传多态性研究

目的研究D2S1399和D5S2500基因座在中国华东地区汉族群体遗传多态性。方法应用PCR、聚丙烯酰胺垂直电泳及银染技术检测D2S1399和D5S2500基因座的遗传多态性。结果D2S1399和D5S2500基因座在中国华东汉族群体分别检出11个和9个等位基因,其观察杂合度(Ho)分别为0.745和0.807,多态信息含量(PIC)分别为0.850和0.750,个体识别能力(DP)分别为0.958和0.917,非父排除率(PE)分别为0.554和0.643。结论D2S1399和D5S2500两个基因座是高度多态性STR基因座,在法医学中有重要应用价值。