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1.
Arch Kriminol ; 233(3-4): 73-94, 2014.
Artículo en Alemán | MEDLINE | ID: mdl-24855736

RESUMEN

According to Naeve, forensic medicine also deals with medical topics concerning accidents associated with watercrafts. This field is not limited to the open sea but also refers to rivers and lakes. In the presented study, fatal boating accidents were investigated over a period of four decades. The majority of the victims died from hypothermia and drowning. The article points out the difficulty to prove hypothermia in cases with a short survival time. Medical expert opinions on deaths due to boating accidents must not ignore the results of the technical and nautical investigations--the more so as the hydrometeorological situation may be crucial for the outcome. Too little attention is still paid to circulatory shock occurring in connection with the pathophysiology of hypothermia and drowning, although it may have a decisive influence on the effectiveness of rescue measures. The final assessment of fatalities in users of watercrafts should always be left to experienced specialists.


Asunto(s)
Accidentes de Tránsito/legislación & jurisprudencia , Accidentes de Tránsito/mortalidad , Causas de Muerte , Recreación , Navíos/legislación & jurisprudencia , Intoxicación Alcohólica/complicaciones , Intoxicación Alcohólica/mortalidad , Autopsia , Ahogamiento/mortalidad , Testimonio de Experto/legislación & jurisprudencia , Alemania , Humanos , Hipotermia/etiología , Hipotermia/mortalidad , Factores de Riesgo , Heridas y Lesiones/etiología , Heridas y Lesiones/mortalidad
2.
Arch Kriminol ; 233(1-2): 20-40, 2014.
Artículo en Alemán | MEDLINE | ID: mdl-24683870

RESUMEN

Deaths on the water are common in the autopsy material of medicolegal institutes situated on the coast or big rivers and lakes (illustrated by the example of the Institute of Legal Medicine of Greifswald University). They mostly occur during recreational boating activities. Apart from hydro-meteorological influences, human error is the main cause of accidents. Often it is not sufficiently kept in mind whether the boat crew is fit for sailing and proper seamanship is ensured. Drowning (following initial hypothermia) is the most frequent cause of death. Medicolegal aspects are not decisive for ordering a forensic autopsy. As statistics are not compiled in a uniform way, a comparison of the data of different institutions engaged in investigating deaths at sea and during water sports activities is hardly possible, neither on a national nor an international basis--and the reconstruction of aquatic accidents is generally difficult. Fatal accidents can only be prevented by completely clarifying their causes.


Asunto(s)
Accidentes/legislación & jurisprudencia , Accidentes/mortalidad , Traumatismos en Atletas/mortalidad , Traumatismos en Atletas/patología , Ahogamiento/mortalidad , Navíos/legislación & jurisprudencia , Anciano , Autopsia , Causas de Muerte , Estudios Transversales , Ahogamiento/patología , Alemania , Humanos , Responsabilidad Legal , Masculino , Persona de Mediana Edad
3.
Forensic Sci Int ; 198(1-3): 92-6, 2010 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-20176452

RESUMEN

Fatal falls are frequent and inhomogeneous events and affect every age. The criminalistic classification can often only be done on the basis of extensive investigations and the autopsy results. We retrospectively surveyed 291 cases of fatal falls on which a post-mortem examination had been carried out in the institutes of Forensic Medicine in Bonn and Greifswald. In large part, these cases are falls from height (n=123) and ground-level falls (n=122). These are compared to fatal falls down a stairs (n=46); the analysis is confined to injuries to the cranium. In ground-level falls the injury pattern in falls under the influence of alcohol differs from that of falls with no alcohol in the case history: all injuries are seen in higher relative frequency in casualties after the consumption of alcohol. In falls from height, the previous consumption of alcohol did not influence the injury pattern; the intracranial traumas are seen in decreasing frequency with increasing heights. The aim of this retrospective analysis is to present injury patterns and influencing factors like fall heights and alcohol for the different kinds of falls on the basis of our collective and to demonstrate similarities and differences between the subgroups.


Asunto(s)
Accidentes por Caídas/mortalidad , Consumo de Bebidas Alcohólicas/epidemiología , Traumatismos Craneocerebrales/mortalidad , Adulto , Distribución por Edad , Anciano , Causas de Muerte , Traumatismos Craneocerebrales/patología , Femenino , Patologia Forense , Alemania/epidemiología , Hematoma/epidemiología , Hematoma/patología , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Distribución por Sexo , Suicidio/estadística & datos numéricos , Heridas y Lesiones/epidemiología , Heridas y Lesiones/patología
5.
Arch Kriminol ; 223(5-6): 145-63, 2009.
Artículo en Alemán | MEDLINE | ID: mdl-19579489

RESUMEN

In the years 1974 to 1990, 39 pilots died in 34 crashes of fighter planes of the National People's Army; 32 victims were examined forensically. For the present study all autopsy protocols and examination reports available in the German Federal Military Archives in Freiburg could be evaluated. Both officer cadets and experienced pilots of high military ranks were among the victims. The majority of the crashes (24 out of 34) was caused by human failure. Health problems or the use of alcohol and medications did not play a role in the aircraft accidents. All killed pilots were identified. The injury patterns after fatal ejection are different from the patterns seen after impact with a plane. Such patterns of findings are meaningful in the reconstruction of unknown sequences of events leading to the accidents and for the assessment of the pilots' capacity to act at the moment of the incident


Asunto(s)
Accidentes de Aviación/legislación & jurisprudencia , Medicina Aeroespacial , Traumatismo Múltiple/patología , Adulto , Autopsia/legislación & jurisprudencia , Causas de Muerte , Alemania , Humanos , Masculino , Adulto Joven
6.
Arch Kriminol ; 220(3-4): 65-76, 2007.
Artículo en Alemán | MEDLINE | ID: mdl-18020139

RESUMEN

Based on a literature study, several interpretations of the term "hydrocution" are presented and discussed. It is difficult to differentiate between hydrocution and atypical drowning. Therefore, the history, the pathogenetic mechanism and the autopsy findings must be considered to establish a clear diagnosis when assessing a sudden death in the water. Practicable diagnosis criteria are recommended.


Asunto(s)
Médicos Forenses/legislación & jurisprudencia , Muerte Súbita Cardíaca/etiología , Ahogamiento/etiología , Autopsia/legislación & jurisprudencia , Causas de Muerte , Muerte Súbita Cardíaca/patología , Diagnóstico Diferencial , Ahogamiento/patología , Humanos
7.
Arch Kriminol ; 219(1-2): 33-9, 2007.
Artículo en Alemán | MEDLINE | ID: mdl-17380941

RESUMEN

An investigation of strangulation tools often reveals DNA of the victim. In some cases, DNA of the suspect can also be demonstrated, even in strangulation tools with a smooth surface like cables. The authors report a case of strangulation of two victims with cable ties. In addition, several used and unused cable ties were found at the crime scene. The DNA analysis detected DNA of the victims, but also genomic and mitochondrial DNA of various other persons not knowingly involved in the crime. Experiments with unused cable ties revealed that even a single handling of a cable tie may leave DNA traces. An enquiry of the companies selling cable ties showed that the cable ties are manually handled, so that foreign DNA must always be expected.


Asunto(s)
Asfixia/patología , Dermatoglifia del ADN/legislación & jurisprudencia , Homicidio/legislación & jurisprudencia , Traumatismos del Cuello/patología , Suicidio/legislación & jurisprudencia , Adulto , Preescolar , ADN Mitocondrial/genética , Diagnóstico Diferencial , Femenino , Humanos , Repeticiones de Microsatélite/genética
8.
Forensic Sci Int ; 165(2-3): 172-7, 2007 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-16919901

RESUMEN

In forensic medicine subtle observation has often resulted in the detection of single findings which are of great significance regarding the mechanisms of development of the incidence or its vitality. Thus, empiricism is an accepted method to gain new insights. Nevertheless the value and the significance of empirically gained insights have to be proven either by retrospective or prospective analysis of important case series or by experiments. It is often a long and difficult way from observation to proof. But without a detailed and evidence-based scientific argumentation the level of empirical methods could not be exceeded.


Asunto(s)
Autopsia/métodos , Violencia , Hemorragia/patología , Humanos , Hipotermia/patología , Órbita/lesiones , Órbita/patología , Fracturas Orbitales/patología , Proyectos de Investigación , Columna Vertebral/irrigación sanguínea , Columna Vertebral/patología , Heridas no Penetrantes/patología
9.
Forensic Sci Int ; 157(2-3): 206-9, 2006 Mar 10.
Artículo en Inglés | MEDLINE | ID: mdl-15919170

RESUMEN

Ten X-chromosomal STRs from two multiplex PCR approaches (DXS9898, DXS6807, HPRTB, DXS101, and androgen receptor (ARA); DXS7133, DXS10011, DXS7424, DXS8377, and DXS8378) have been typed in a Latvian population sample.


Asunto(s)
Cromosomas Humanos X , Genética de Población , Secuencias Repetidas en Tándem , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Dermatoglifia del ADN , Femenino , Frecuencia de los Genes , Humanos , Letonia , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa
10.
Int J Legal Med ; 120(2): 61-6, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16133564

RESUMEN

DXS6797 is a complex X-chromosomal locus which contains two variable short tandem repeats (STRs) (motif ATCT) separated by 128 non-polymorphic nucleotides. The two STRs can be cleaved apart by Taq I digestion. Conventionally, DXS6797 is typed by measuring the overall amplicon length, providing only eight alleles [polymorphism information content (PIC) 0.733, mean exclusion chance (MEC) 0.712]. Separate amplification would increase the discrimination but obscure the haplotype constellation in females. Therefore, we proceed by amplifying the whole sequence containing both repeats (DXS6797 I and DXS6797 II) using a Fam-labelled forward primer and a Tamra-labelled reverse primer. We then measure the length of the entire double-labelled amplicon and a Taq-I-digested aliquot to infer, for both males and females, compound haplotypes consisting of DXS6797 I and DXS6797 II repeat length. This procedure has the potential to provide 42 DXS6797 haplotypes. If the crossover rate between both STRs is assumed to be <1.5x10(-6), DXS6797 haplotypes could be used for kinship testing like STR alleles. In our German sample (780 X chromosomes), we determined 27 haplotypes (PIC 0.842, MEC 0,834) and in 220 meioses, we found no new mutations.


Asunto(s)
Dermatoglifia del ADN/métodos , Haplotipos , Secuencias Repetidas en Tándem , Adolescente , Adulto , Cromosomas Humanos X , Cartilla de ADN , Femenino , Frecuencia de los Genes , Ligamiento Genético , Genética de Población , Alemania , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimerasa Taq/genética
11.
Forensic Sci Int ; 159(2-3): 98-103, 2006 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-16105725

RESUMEN

In a certain amount of paternity investigations, only DNA from child and alleged father is analyzed, thus increasing the possibility of false paternity inclusions. The aim of this study was to determine how many wrong paternity inclusions could be detected in a rather small geographical area comparing empirical results from 336 children and 348 men (13-15 STRs were investigated per person). This comparison between each child and all unrelated men (i.e. all putative fathers from the other cases) with an especially designed computer program resulted in 116,004 man/child pairs. Less than three excluding STRs were found in 1666 child/unrelated man pairs (1.44% of the comparisons). At least one unrelated man with only two or less STR mismatches could be determined for 322 children (95.8% of all investigated children). In 26 comparisons no STR mismatches between a child and an unrelated man were detected, thus at least one and up to three "second father(s)" under 350 men could be found for 23 children, if the mother is excluded. Paternity probabilities between 95.475% and 99.996% were calculated. Our results underline the difficulties in motherless paternity cases using only STR analysis and advise great precaution in assigning verbal predicates such as "paternity proven" in those investigations.


Asunto(s)
ADN/análisis , Paternidad , Reacción en Cadena de la Polimerasa/métodos , Secuencias Repetidas en Tándem/genética , Adulto , Niño , Reacciones Falso Negativas , Femenino , Alemania , Humanos , Masculino , Valor Predictivo de las Pruebas
12.
Forensic Sci Int ; 159(2-3): 92-7, 2006 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-16143476

RESUMEN

Nowadays, more and more paternity cases are carried out investigating only child and putative father, mostly for economical or private reasons. Usually, reliable results can be obtained and the putative father can be included or ruled out with a high certainty. Considerable problems might arise when a relative of the biological father is investigated as being the putative father. In this study, we investigated 164 persons from 27 families creating artificial deficiency cases using the AmpFlSTRIdentifiler kit, which amplifies 15 STRs simultaneously. We analyzed 93 child/biological father pairs and the corresponding uncles, respectively the brothers of the biological fathers. The average paternity probability for the biological father was 99.9699% (paternity index (PI): 3321.26); only in three cases the results were under 99.9%. In five out of 125 child/uncle pairs no STR mismatches were found and paternity probabilities between 99.9726% (PI 3652) and 99.9970% (PI 33,545) were calculated. The average number of excluding loci was 3.4, but in 31.2% of the cases only zero, one or two mismatches were found. When both putative fathers were genetically typed, the biological father usually had a statistically higher paternity probability. Nevertheless, the differences between probabilities for father and uncle were only small. These results show that a reliable investigation of deficiency cases (i.e. child and putative father) seems to be more difficult than generally assumed. Especially in cases with an unknown familiar background and/or when investigating foreigners for immigration purposes, the laboratory expert should include the mother, increase the number of investigated loci or include a second method such as RFLP-analysis, some serological systems or typing of X-chromosome specific STRs to further ascertain the results.


Asunto(s)
ADN/análisis , Familia , Paternidad , Reacción en Cadena de la Polimerasa/métodos , Secuencias Repetidas en Tándem/genética , Adulto , Niño , Reacciones Falso Negativas , Femenino , Alemania , Humanos , Masculino , Valor Predictivo de las Pruebas
13.
Forensic Sci Int ; 155(1): 71-6, 2005 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-16216714

RESUMEN

In this study we present two new pentaplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-penta-1 comprises DXS9898, DXS6807, HPRTB, DXS101, and androgen receptor (ARA); X-penta-2 consists of DXS7133, DXS10011, DXS7424, DXS8377, and DXS8378. In addition, allele frequencies for these loci in a northeast German population comprising 100 females and 105 males were shown. The applicability and usefulness of our two PCR pentaplex approaches in paternity deficiency cases is demonstrated by a combined power of discrimination (PD(c)) for both females and males with PD(c)>0.999999.


Asunto(s)
Cromosomas Humanos X , Dermatoglifia del ADN/métodos , Genética de Población , Secuencias Repetidas en Tándem , Cartilla de ADN , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Alemania , Humanos , Masculino , Reacción en Cadena de la Polimerasa/métodos
14.
Hum Pathol ; 36(9): 1003-7, 2005 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16153464

RESUMEN

The clinical presentation of myocarditis is highly variable, and histopathology is thus considered to be the cornerstone of diagnosis. We studied how accurately myocarditis was diagnosed in a series of routine autopsies and how fatal myocarditis presents clinically. All death certificates with myocarditis recorded as the underlying cause of death in Finland in 1970 to 1998 were collected retrospectively (N = 639). All cases with cardiac autopsy samples and clinical data available (n = 142; median age, 51 years) were included in this study. The cardiac samples were reexamined for the presence of myocarditis by 3 experienced independent pathologists using the Dallas criteria. The clinical data were evaluated for the presenting signs and symptoms of myocarditis. Histopathologic reanalysis showed that only 32% of the 142 subjects met the Dallas criteria for myocarditis (75% of pediatric and 28% of adult patients, P = .001). Clinicians had suspected myocarditis in only one third of the hospitalized Dallas-positive patients. Dallas-positive patients presented more often with features of myocardial infarction (26% versus 9%, P = .026) or heart failure (35% versus 10%, P = .001) than Dallas-negative subjects. The signs and symptoms of infectious disease were also more common in Dallas-positive patients (61% versus 23%, P < .001). In contrast, Dallas-negative subjects died suddenly or were found dead more frequently (68% versus 39%, P = .004). The most evident cause of death in the Dallas-negative subjects was ischemic heart disease (n = 78, 55% of all cases). Our study provides evidence that myocarditis is overdiagnosed on routine autopsies, particularly in patients who have died suddenly or are found dead. Fatal myocarditis appears to present equally often as heart failure, sudden death, or mimicking myocardial infarction.


Asunto(s)
Miocarditis/diagnóstico , Adolescente , Adulto , Anciano , Autopsia , Causas de Muerte , Niño , Preescolar , Errores Diagnósticos , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Miocarditis/patología , Estudios Retrospectivos
15.
Clin Infect Dis ; 40(5): 683-8, 2005 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-15714413

RESUMEN

BACKGROUND: Although enteroviruses and adenoviruses are considered to be the leading causes of the usually mild clinical myocarditis, little is known about the etiology of severe or fatal myocarditis. METHODS: We collected all available clinical records and myocardial autopsy samples for patients who had myocarditis recorded as the underlying cause of death in Finland during the period of 1970-1998. Findings for all available patients (20 men and 20 women; median age, 49 years) with myocarditis that fulfilled the Dallas criteria and who had sufficient data were included in the study. Twelve subjects who had died accidentally served as control subjects. Polymerase chain reaction (PCR) and in situ hybridization assays were used for detection of viral genomes (adenovirus, cytomegalovirus, enterovirus, human herpesvirus 6, influenza A and B viruses, parvovirus B19, and rhinovirus) in heart samples. RESULTS: Viral nucleic acids were found in the hearts of 17 patients (43%), including cytomegalovirus (15 patients), parvovirus B19 (4 patients), enterovirus (1 patient), and human herpesvirus 6 (1 patient). In 4 patients, cytomegalovirus DNA was found in addition to parvovirus B19 or enterovirus genomes. No adenoviruses, rhinoviruses, or influenza viruses were detected in this study of fatal myocarditis. In 67% of the patients for whom PCR was positive for cytomegalovirus, in situ hybridization revealed viral DNA in cardiomyocytes. Only 1 of these patients was immunocompromised. In the control group, only human herpesvirus 6 (1 subject) and parvovirus B19 (1 subject) DNA were detected. CONCLUSIONS: In this population-based study, cytomegalovirus was found to be the most common specific finding in immunocompetent patients with fatal myocarditis. This may have important clinical implications for the treatment of severe acute myocarditis.


Asunto(s)
Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/epidemiología , Miocarditis/complicaciones , Miocarditis/mortalidad , Adolescente , Adulto , Anciano , Autopsia , Causas de Muerte , Preescolar , Infecciones por Citomegalovirus/diagnóstico , ADN Viral/aislamiento & purificación , Femenino , Finlandia/epidemiología , Corazón/virología , Humanos , Lactante , Masculino , Persona de Mediana Edad , Miocarditis/virología , Estudios Retrospectivos
16.
Forensic Sci Int ; 145(1): 1-6, 2004 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-15374588

RESUMEN

Archival pathology specimens are nowadays a frequently used source in forensic identification or paternity testing, if no other material is available. A greater part of this archived material, however, consists of solid tumors known for aberrations in coding and non-coding regions of the genome. Therefore, alterations of short tandem repeats (STRs) used in forensic casework are also possible. In our study of 118 solid tumors, 46 lymph node metastases, and 16 distant metastases with the AmpFlSTR trade mark Profiler Plus PCR amplification kit comprising nine STR loci, we detected four kinds of changes between normal and tumor tissue: partial loss of one allele (pLOH), complete loss of one allele (LOH), occurrence of an additional allele and occurrence of a new allele instead of that found in normal tissue. Twenty-two percent of the tumor lesions displayed pLOH, but only in 14% one allele was completely lost. New alleles could be demonstrated in 18% of tumors, and in 8% the new allele in the tumor tissue replaced the one found in normal tissue. The changes were distributed over all nine STRs, but the STRs mostly affected were FGA, D3S1558, D18S51 and D21S11. The occurrence of new alleles in the tetra-nucleotide repeats correlated mainly with microsatellite instability in di-nucleotide and mono-nucleotide repeats. The occurrence of new alleles was most frequent in primary tumors of colon carcinomas and HNSCC metastases. In melanomas, only loss of alleles could be found. Our results demonstrate that the use of tumor tissue in forensic identification and paternity testing is questionable, especially if only tumors with known microsatellite instability are available.


Asunto(s)
Alelos , Desequilibrio Alélico , Neoplasias/genética , Secuencias Repetidas en Tándem , Dermatoglifia del ADN , Inestabilidad Genómica , Humanos , Reacción en Cadena de la Polimerasa
17.
Diagn Mol Pathol ; 13(1): 26-32, 2004 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15163006

RESUMEN

Mitochondrial DNA (mtDNA) mutations in coding and noncoding regions have been reported in a variety of human cancers. Despite a greater number of studies, the relationship between such alterations and nuclear microsatellite instability (nMSI) of the tumor cells remains controversial. To contribute new data to this discussion, we investigated head and neck squamous cell carcinomas (HNSCC) for mutations and mitochondrial microsatellite instability (mtMSI) in 2 parts of the mitochondrial D-loop as well as mutations in 2 mitochondrial genes and for the delta4977 mtDNA deletion. These results were compared with data of an analysis for microsatellite instability at IGFIIR, hMSH3, hMSH6, and 5 dinucleotide repeats. We found mtMSI, low nMSI, and high nMSI in 42%, 36%, and 13% of HNSCC primary tumors, respectively. A de novo delta4977 mtDNA deletion could be demonstrated in 25% of HNSCCs. A correlation between mtMSI and nMSI or between a de novo occurrence of the delta4977 mtDNA deletion and nMSI could not be detected in our HNSCC samples (P values 0.527 and 0.078, respectively). Nevertheless, the high rate of mtMSI suggests an involvement of mtDNA alterations in the tumorigenesis of this head and neck cancer and supports the proposal that this aberration may be a new tumor marker.


Asunto(s)
Carcinoma de Células Escamosas/genética , Núcleo Celular/genética , ADN Mitocondrial/genética , Neoplasias de Cabeza y Cuello/genética , Repeticiones de Microsatélite/genética , Mutación , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/patología , Secuencia de ADN Inestable/genética , Repeticiones de Dinucleótido/genética , Mutación del Sistema de Lectura/genética , Neoplasias de Cabeza y Cuello/patología , Humanos , Persona de Mediana Edad , Mutación Puntual/genética , Estudios Retrospectivos , Análisis de Secuencia de ADN , Eliminación de Secuencia/genética
18.
Arch Kriminol ; 214(5-6): 173-83, 2004.
Artículo en Alemán | MEDLINE | ID: mdl-15666973

RESUMEN

During the last few years, the number of privately ordered paternity investigations has increased considerably. Probably due to financial reasons in more and more cases only the putative father and the child are investigated. Additionally, very often only one method, such as STR analysis, is employed. This raises the question whether such a reduced analysis leads to reliable and clear results when investigating cases with related putative fathers. We investigated 165 individuals from 27 families using the AmpFlSTRIdentifiler multiplex PCR and calculated the paternity probabilities of the children to their biological fathers, uncles, grand fathers and other relatives. In more than 30% less than three exclusions between child and relative were detected. In five cases no exclusions were found between child and uncle, always leading to paternity probabilities >99.9%. These results show that the calculation of high probabilities (>99.9%) does not necessarily lead to the accurate conclusion of fatherhood. In many of our cases misleadingly the brother of the real father or another close relative would have been declared to be the biological father.


Asunto(s)
Dermatoglifia del ADN/métodos , Pruebas Genéticas/métodos , Pruebas Genéticas/estadística & datos numéricos , Modelos Genéticos , Paternidad , Reacción en Cadena de la Polimerasa/métodos , Secuencias Repetidas en Tándem/genética , Cromosomas Humanos Y/genética , Simulación por Computador , Dermatoglifia del ADN/estadística & datos numéricos , Reacciones Falso Negativas , Padre/clasificación , Padre/estadística & datos numéricos , Genotipo , Humanos , Masculino , Modelos Estadísticos , Reacción en Cadena de la Polimerasa/estadística & datos numéricos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
19.
Forensic Sci Int ; 137(2-3): 125-32, 2003 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-14609647

RESUMEN

Mitochondrial DNA sequences of the hypervariable regions HV I and HV II were analyzed in 300 unrelated individuals born and living in the northeast corner of Germany (Western Pomerania) to generate a database for forensic identification purposes in this region. Sequence polymorphism were detected using PCR and direct sequencing analysis. A total of 242 different haplotypes were found as determined by 147 variable positions. The most frequent haplotype (263G, 315.1C) was found in 10 individuals and is also the most common sequence in Europe. Three other haplotypes were shared by 5 individuals, 2 sequences by 4, 8 haplotypes by 3, 15 sequences by 2 persons, and 213 sequences were unique. The genetic diversity was estimated to be 0.99 and the probability of two random individuals showing identical mitochondrial DNA (mtDNA) haplotypes is 0.6%. A comparison with other studies from Germany showed only little differences in the distribution of haplogroups. Nevertheless, one frequent haplotype in northeast Germany (five unrelated individuals) could only rarely be found in other German and European regions. Our results may indicate that despite a high admixture proportion in the German population some regions could demonstrate certain characteristic features.


Asunto(s)
ADN Mitocondrial , Genética de Población , Polimorfismo Genético , Dermatoglifia del ADN , Alemania , Haplotipos , Humanos , Masculino , Reacción en Cadena de la Polimerasa
20.
Leg Med (Tokyo) ; 5 Suppl 1: S173-6, 2003 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12935581

RESUMEN

Over the past decade investigations of human mitochondrial DNA (mtDNA) have considerably contributed to our knowledge about human evolution and migration. The genome of the Icelandic population is of special interest since Iceland has been genetically isolated for centuries. The sequence of the hypervariable regions HVS-I and HVS-II of the mtDNA control region was generated for 100 Icelandic individuals. A total of 75 different mtDNA sequences were observed, of which 19 sequences were shared by more than one individual, 16 sequences were shared by two individuals and two sequences were shared by three individuals; the most frequent haplotype (16129 A, 16239 T, 00263 G and 00315.1 C) was found six times. Both the genetic diversity (0.9925+/-0.0031) and the average number of pairwise nucleotide differences (7.371) were comparable with most of the other European populations. However, we found a smaller number of distinct mitochondrial lineages, suggesting that founder effects and genetic drift may have exerted a visible influence on the Icelandic genetic diversity. We compared these data with 1400 other European sequences from the D-Loop-BASE database. The paper discusses the evolutionary relationship between Icelandic and Central European mtDNA under due consideration of the historical context. Finally, our study has been aimed at increasing the number of mtDNA sequences available throughout the world and contributing to human genome investigations.


Asunto(s)
ADN Mitocondrial/análisis , Variación Genética , Genética de Población , Haplotipos , Análisis de Secuencia de ADN , Dermatoglifia del ADN , Humanos , Islandia
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