RESUMO
POPULATION: One hundred and thirteen unrelated Flemish men from Belgium.
Assuntos
Cromossomos Humanos Y , Genética Populacional , Haplótipos , Sequências de Repetição em Tandem , Bélgica , Impressões Digitais de DNA , Humanos , MasculinoRESUMO
In the course of routine genotyping of forensic reference samples by multiplex PCR, an allelic drop-out due to mutations in the primer binding regions of the highly polymorphic STR marker ACTBP2 was observed in 17 samples. The variation rate was estimated to be 0.0014 (95% confidence interval: 0.0006-0.003). The most frequently found mutation was an G to A transition in the reverse primer binding region which was present in 14 out of 17 cases. To overcome the problem we have added a modified reverse primer to different multiplex kits that led to the correct genotype.
Assuntos
Impressões Digitais de DNA/métodos , Primers do DNA/genética , Perda de Heterozigosidade/genética , Sequências de Repetição em Tandem/genética , Sítios de Ligação , HumanosRESUMO
We have investigated the deposition of glycoconjugates in human brain tissue with or without brain disorders. In this review we describe the application of lectin-histochemistry techniques to forensic neuropathology. Lectin staining is able to reveal several kinds of carbohydrate-related depositions in addition to the conventional degenerative changes including senile plaques, neurofibrillary tangles and corpora amylacea. The senile plaques and neurofibrillary tangles were clearly stained by Con A, PSA and GSI lectins, the corpora amylacea which is relevant to repeated brain hypoxia and mitochondrial damage was also easily detected by these and many other kinds of lectins. Amorphous spaces were detected around blood vessels and independently from blood vessels by lectin staining in the white matter from patients with brain disorders or severe edema. The white matter lesions were not considered relevant for forensic pathology, until a large group of cerebral white matter lesions were detected in the elderly with increasing frequency by modern neuro-imaging methods. The spherical deposits were newly detected by lectin staining in the molecular layer of the dentate gyrus of the hippocampal formation chiefly from patients with schizophrenia or cognitive dysfunctions.
Assuntos
Química Encefálica , Medicina Legal/métodos , Lectinas , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Feminino , Glicoconjugados/análise , Histocitoquímica/métodos , Humanos , Indicadores e Reagentes , Masculino , Neurônios/química , Coloração e Rotulagem/métodosAssuntos
Mutação , Pancreatite/genética , Tripsina , Tripsinogênio/genética , Adolescente , Adulto , Idade de Início , Criança , Doença Crônica , Humanos , Pancreatite/epidemiologiaRESUMO
This paper presents a review of the organisation and background of blind trial systems in general and in particular the system developed in Münster originally for the German Society of Forensic Medicine. This system, known as GEDNAP (German DNA profiling group), has now evolved into a multinational DNA blind trial open to all laboratories involved in paternity and forensic DNA testing.