RESUMO
We report on a patient who was diagnosed with high-grade breast carcinoma by all the pre-surgery clinical evidence of malignancy, but histopathological reports did not reveal any such tumor residue in the post-surgical tissue block. This raised a suspicion that either exchange of block, labeling error, or a technical error took place during gross examination of the tissue. The mastectomy residue was unprocurable to sort out the problem. So, two doubtful paraffin blocks were sent for DNA fingerprinting analysis. The partial DNA profiles (8-9/15 loci) were obtained from histocytological blocks. The random matching probability for both the paraffin blocks and the patient's blood were found to be 1 in 4.43E4, 1.89E6, and 8.83E13, respectively for Asian population. Multiplex short tandem repeat analysis applied in this case determined that the cause of tumor absence was an error in gross examination of the post-surgical tissue. Moreover, the analysis helped in justifying the therapy given to the patient. Thus, with DNA fingerprinting technique, it was concluded that there was no exchange of the blocks between the two patients operated on the same day and the treatment given to the concerned patient was in the right direction.
Assuntos
DNA/análise , Histocitoquímica/métodos , Repetições de Microssatélites/genética , Neoplasias/genética , Estudos de Viabilidade , Marcadores Genéticos , Histocitoquímica/instrumentação , Humanos , Neoplasias/metabolismo , Parafina , Reação em Cadeia da PolimeraseRESUMO
In this study, 17 Y-specific STR loci (DYS19, DYS389I, DS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y_GATA_H4) were analyzed in 181 unrelated male individuals from three North Indian states. A total of 157 different 17-loci haplotypes were identified, 145 of which were unique. The most frequent haplotype was detected in nine instances, occurring with a frequency of 4.97%. These results, including the haplotype data at 17 Y-STR loci in the present study, provide useful information for forensic practice in the Saraswat Brahmin population in North India.
Assuntos
Cromossomos Humanos Y , Etnicidade , Haplótipos , Repetições de Microssatélites/genética , Evolução Molecular , Humanos , ÍndiaRESUMO
In an alleged rape case, for one male suspect, XX genotype and deletion at four Y-STR loci was noticed. The expressions of 18 Y-linked genes were studied to measure the extent of deletion. No expressions at two loci were observed that might have caused the misinterpretations in forensic casework.
Assuntos
Cromossomos Humanos Y/genética , Medicina Legal , Legislação Médica , Deleção Cromossômica , Humanos , Infertilidade Masculina , Masculino , Reação em Cadeia da Polimerase , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genéticaRESUMO
In this study 17 Y-chromosomal STRs (including DYS19, DYS389I, DS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y GATA H4) were analysed using blood samples of 122 unrelated male individuals belonging to Saraswat Brahmin community from Jammu (ID YP000599) and Kashmir (ID YP000600) region of J&K state of India. The allelic frequency distribution and haplotype diversity of 17 Y-chromosomal STR for both the populations were calculated. In the Kashmiri Saraswat group, a total of 109 haplotypes were identified in 122 individuals, of these haplotypes, 101 were found only once. The gene diversity values of STR loci ranged from 0.4813 (DYS391) to 0.8645 (DYS385a/b) for Jammu & Kashmiri Saraswat Brahmins.
Assuntos
Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos/genética , Polimorfismo Genético/genética , Sequências de Repetição em Tandem/genética , Etnicidade/genética , Genética Forense , Frequência do Gene , Humanos , Índia , MasculinoRESUMO
A 28-year-old man, Surinder Koli, from a Nithari village adjoining Delhi, India committed serial murder. This case was of paramount importance in medico-legal investigations, as it was a landmark case of a serial killer reported from India. The skeletal remains (627 pieces) including skull/skull portions (19) were recovered from the nearby sewer drain, sump and the backyard of the house in which this man was residing. In addition, soft tissues (51) were also recovered from the same sewer drain. The victims were killed over a two-year period. The establishment of identity of the victims was crucial to prove the case in the court of law as well as for the claimants. Nineteen sets were prepared by radiology/anatomical examination from the exhibits recovered. DNA profiling confirmed the correctness of these sets and also short tandem repeat typing of nuclear DNA successfully identified eight individuals. Both DNA profiling and radiography/anatomical examination played an important role in solving this complicated case.
