Abstract：
:We report a simultaneous study of the VWA STR locus by the Perkin-Elmer Profiler Plus kit and the Promega GenePrint CTTv kit in a population sample from North Portugal and in 418 meiosis from family material and paternity cases. PCR amplification and genotyping were performed according to the manufacturer's instructions using ABI 377 or ABI 310 automatic sequencers. Biological kinship in family material and paternity cases was validated by the use of the STR loci D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA, CSF1PO, TH01 and TPOX. Out of 434 unrelated individuals we found 4 inconsistencies between the genotypes obtained using each kit. No exclusions were found in the meiotic analyses. In all cases, these inconsistencies were due to an annealing failure of the Perkin-Elmer forward primer resulting in false homozygotes. Sequencing analysis revealed an A-to-T substitution at position 1631 (GenBank sequence M25858), 52 bases upstream of the first TCTA motif of the repeat region. An estimate of the null allele frequency (s) in this study is thus obtainable from the expression s = 4/(2 x 434) = 0.46%. The relatively high frequency of these discrepancies in our population demonstrates the need for caution when comparing genotype or gene frequency estimates made from amplicons produced by different primers, when evaluating apparent exclusions in paternity testing and when searching for a match between individual genetic profiles in forensic databases. Our findings are also compared with those previously reported.
journal_name
Int J Legal Medjournal_title
International journal of legal medicineauthors
Alves C,Amorim A,Gusmão L,Pereira Ldoi
10.1007/s004140100215subject
Has Abstractpub_date
2001-10-01 00:00:00pages
97-9issue
2eissn
0937-9827issn
1437-1596journal_volume
115pub_type
杂志文章abstract：:Speckle interferometry is a non-destructive measurement technique using a laser. The principles of the method are described. Human hyoid bones (n = 10) were investigated. Loads were applied to individual points on the anterior surface of the body of hyoid bones. All hyoid bones showed an asymmetric displacement. The d...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01225233
更新日期：1993-01-01 00:00:00
abstract：:The sudden infant death syndrome (SIDS) is at present based on unknown pathogenetical mechanisms but in industrial nations is the most common cause of death in infancy after the perinatal period. Studies of a large number of adrenal glands in this syndrome have not been reported. Therefore, we evaluated 146 SIDS cases...
journal_title：International journal of legal medicine
pub_type： 杂志文章,多中心研究
doi：10.1007/BF01225413
更新日期：1994-01-01 00:00:00
abstract：:In order to increase the validity of age estimation in adolescents and young adults when there is no legitimation for X-ray examinations, it seems desirable to be able to assess the mineralization of third molars using X-ray-free imaging procedures. In the present study, the mineralization stages of lower third molars...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-015-1238-7
更新日期：2015-11-01 00:00:00
abstract：:DXS8378, DXS7132, HPRTB, and DXS7423 microsatellite markers located in four different X-chromosomal linkage groups were studied in the Hungarian population. After genotyping unrelated men (219) and women (165), forensic efficiency parameters showing that the four X-linked short tandem repeats are informative for foren...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-005-0051-0
更新日期：2007-01-01 00:00:00
abstract：:Human fingertip microflora is transferred to touched objects and may provide forensically relevant information on individual hosts, such as on geographic origins, if endogenous microbial skin species/strains would be retrievable from physical fingerprints and would carry geographically restricted DNA diversity. We tes...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-009-0352-9
更新日期：2010-09-01 00:00:00
abstract：:A population study in a sample of 211 unrelated individuals from 2 cities in North and Central Italy was carried out to investigate the short tandem repeat (STR) system HUMVWA31. Separation of PCR- amplified DNA fragments was performed by high-resolution horizontal denaturing polyacrylamide gel electrophoresis (PAGE) ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01428399
更新日期：1995-01-01 00:00:00
abstract：:In this casuistry, two accidents from Germany and Switzerland are presented that happened during the shot of recoilless anti-tank weapons. In both cases, the injuries led to the death of two soldiers: A 22-year-old soldier in Germany was struck by the counter mass of a so-called Davis gun which had been fired by a com...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-020-02301-4
更新日期：2020-11-01 00:00:00
abstract：:A nucleotide polymorphism of C or T was detected at position 465 in the sex-determining region Y (SRY) gene. To evaluate the utility of this dimorphism in human population studies, the frequency and the frequency of the haplotype combined with the two polymorphic loci YAP and M9 were examined in a total of 130 unrelat...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004149900111
更新日期：2001-01-01 00:00:00
abstract：:Allele frequencies for four short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 8 alleles were identified for D3S1358 (n=201), 10 alleles for D8S1179 (n=198), 13 alleles for D18S51 (n=197) and 11 alleles for D19S253 (n=201). No deviation fro...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050205
更新日期：1998-01-01 00:00:00
abstract：:Allele frequencies at the short tandem repeat (STR) loci HumACTBP2 and HumVWA were determined in 118 unrelated individuals from Northern Italy (Milan area). For locus HumACTBP2 (SE33) a total of 39 alleles was observed. Furthermore, two interalleles (N18m+N19m) and one allele (> N35) were found which were not observed...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050090
更新日期：1997-01-01 00:00:00
abstract：:Article 25 of the Charter of Fundamental Rights of the European Union (adopted in Nice on 7 December 2000) recognizes and respects the rights of older people to lead a life of dignity and independence and to participate in social and cultural life. It also highlights the importance of prevention and recognition of eld...
journal_title：International journal of legal medicine
pub_type： 杂志文章,实务指引
doi：10.1007/s00414-018-1880-y
更新日期：2019-01-01 00:00:00
abstract：:In the present study, blood samples of 984 unrelated Han individuals were collected from Dongfang, Southern China, after informed consent. A total of 29 Y-chromosomal short tandem repeat (Y-STR) were analyzed, including DYF387S1, DYS19, DYS385ab, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS43...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-018-1899-0
更新日期：2019-07-01 00:00:00
abstract：:Anthropologists are constantly seeking to improve methods for age estimation in the human skeleton. A new method was introduced about a decade ago that assesses the morphological changes that take place in the acetabulum as an individual ages. The pelvis is usually well preserved in forensic cases, which makes this me...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-015-1299-7
更新日期：2016-05-01 00:00:00
abstract：:Due to the requirement to minimise exposure to radiation, it is desirable to develop non-ionising imaging procedures for the analysis of skeletal maturation for forensic age diagnostics in living individuals. The present pilot study analyses the applicability of ultrasound examinations for the evaluation of apophyseal...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-011-0554-9
更新日期：2011-03-01 00:00:00
abstract：BACKGROUND:As sex estimation is an important step to delineate the biological profile, the development of tools employing anatomical structures which may maintain their integrity even after extreme events, such as the maxillary sinus, become useful for forensic identification. Thus, the aim in the present study was to ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-018-1869-6
更新日期：2019-07-01 00:00:00
abstract：:The smoking cessation agent varenicline acts as a partial agonist on α(4)β(2) nicotinic acetylcholine receptors. Although debated, several reports have linked varenicline therapy to an increased risk of suicidal thoughts and/or suicide. In addition, several non-fatal overdose cases have been reported. In this report, ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-012-0695-5
更新日期：2013-01-01 00:00:00
abstract：:Sudden infant death syndrome (SIDS) is a multifactorial syndrome and assumingly, among other mechanisms, a deficit in respiratory control leads to a failure of arousal and autoresuscitation when the child is challenged by a stressful homeostatic event, e.g., hypoxia. We hypothesize that genetic polymorphisms involved ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-015-1232-0
更新日期：2015-09-01 00:00:00
abstract：:Postmortem MRI (PMMR) examinations are seldom performed in legal medicine due to long examination times, unfamiliarity with the technique, and high costs. Furthermore, it is difficult to obtain access to an MRI device used for patients in clinical settings to image an entire human body. An alternative is available: ex...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-1058-1
更新日期：2015-05-01 00:00:00
abstract：:Isopropyl alcohol, or propan-2-ol (IPA), is found in numerous chemicals including alcohol-based hand rubs whose use has been recently widely extended to the general population since the onset of the COVID-19 pandemic. This widespread of IPA use could potentially, but not necessarily, be responsible for an increase in ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-020-02444-4
更新日期：2021-01-01 00:00:00
abstract：:Suppose that part of the prosecution's evidence in some crime case is analysis of a blood stain, and that the traits E discovered in the stain suggest multiple donors. Then the prosecution will probably allege some specific inculpatory hypothesis H0 about the sources of the stain, and P (E [symbol: see text] H0) can b...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01225523
更新日期：1996-01-01 00:00:00
abstract：:In the last decade, increasing knowledge of epigenetics has led to the development of DNA methylation-based models to predict age, which have shown high predictive accuracy. However, despite the value of teeth as forensic samples, few studies have focused on this source of DNA. This study used bisulfite pyrosequencing...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-019-02242-7
更新日期：2020-03-01 00:00:00
abstract：:We investigated the polymorphism of five X-chromosomal short tandem repeat markers (ChrX STRs) loci (DXS7132, DXS981, DXS6803, DXS6809, and DXS6789) and their value for forensic applications. A fluorescent multiplex polymerase chain reaction (PCR) for amplifying five ChrX STRs loci in the same PCR reaction was set up....
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-008-0223-9
更新日期：2008-05-01 00:00:00
abstract：:To examine the prevalence of hepatitis G virus (HGV) and hepatitis C virus (HCV) infections in deceased injection drug users and for comparison of the detection rates of HGV and HCV RNA in liver tissue with detection rates in postmortem serum samples, RT-PCR was performed in 50 drug abuse-related fatalities. HGV RNA w...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050195
更新日期：1998-01-01 00:00:00
abstract：:When preparing forensic age estimates for living subjects over 18 years of age, it is crucial to evaluate the stage of ossification of the medial clavicular epiphysis. The establishment of radiation-free imaging techniques for assessment of clavicular ossification would be desirable in order to reduce the radiation ex...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-007-0220-4
更新日期：2008-03-01 00:00:00
abstract：:In kinship analysis, large data sets with estimated haplotype frequencies for marker clusters are very important for the likelihood calculation. Practical use of the X-STRs demonstrated that in some complex kinship cases, the marker set of the Investigator Argus X-12 kit can be insufficient. This study aimed to extend...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-020-02306-z
更新日期：2020-11-01 00:00:00
abstract：:This study reports mtDNA polymorphisms in both hypervariable segments HV1 and HV2 of the non coding D-loop region from 60 unrelated Koreans. In contrast to two previous Korean data base studies, mtDNA was extracted separately from pulp tissue and root dentin of teeth obtained from dentists. Dentin turned out to be a r...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050177
更新日期：1998-01-01 00:00:00
abstract：:A study of the genetic variability in the Chueta (Majorcan Jews) and the Balearic (Majorca and Minorca Islands) populations was carried out using a multiplex system containing the nine tetrameric STRs D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. The Chueta population has remained isolated be...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004149900101
更新日期：2000-01-01 00:00:00
abstract：:Performance of PowerPlex Fusion 6C kit (PP F6C) was assessed in 374 unrelated individuals belonging to Madhya Pradesh, an Indian state. The study evaluated the forensic parameters for the loci included in PP F6C Multiplex System. The combined discrimination power (CPD) and combined exclusion power (CPE) were 1 and 0.9...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-019-02017-0
更新日期：2019-05-01 00:00:00
abstract：:Acute aortic dissection (AAD) is a clinically "silent," but emergent and life-threatening cardiovascular disease, and hereditary factors play an important etiologic role in the development of AAD. The purposes of this study are to definitize the diagnostic yield of 59 AAD patients, investigate the molecular pathologic...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-018-1890-9
更新日期：2018-09-01 00:00:00
abstract：:A case of traumatic cervical spinal cord injury due to congenital craniocervical abnormalities is described. The autopsy revealed evidence of hyperextension of the neck due to frontal impact, congenital occipitalization of the atlas accompanied by basilar invagination of the odontoid process and atlanto-axial diastasi...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01225023
更新日期：1993-01-01 00:00:00
