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Evaluating genome-wide and targeted forensic sequencing approaches to kinship determination.
Forensic Sci Int Genet
January 2025
Department of Genetics, Genomics & Cancer Sciences, University of Leicester, University Road, Leicester, UK. Electronic address:
Kinship determination is a valuable tool in forensic genetics, with applications including familial searching, disaster victim identification, and investigative genetic genealogy. Conventional typing of small numbers of autosomal short tandem repeats (STRs) confidently identifies only first-degree relatives. Massively parallel sequencing (MPS) can access more STRs and resolve alleles identical by length but differing in sequence (isoalleles), which may increase the power of kinship estimation, particularly when combined with additional sequenced single nucleotide polymorphism (SNP) loci, as in the ForenSeq DNA Signature Prep kit.
View Article and Find Full Text PDFGenetic characterization of paternal lineages by Y-STR in three sample populations in Northeastern Brazil.
Int J Legal Med
January 2025
Bioinformatics and Evolutionary Biology Laboratory, Department of Genetics, Federal University of Pernambuco, Av. Professor Moraes Rego, Recife, PE, 50670-901, Brazil.
Genetic markers of the Y chromosome are powerful tools for investigating paternal ancestry and are widely used in population and forensic genetics. However, in order to obtain statistics with a higher degree of certainty using these markers, it is necessary to obtain haplotypic frequencies from a representative database, as well as knowing the diversity and structure of the population. The aim of this study was to investigate the genetic diversity of a sample of 1114 unrelated men from three states in the Northeast of Brazil: Paraíba, Pernambuco and Ceará, through the analysis of 23 Y-STRs and to contribute to the expansion of the Brazilian database on these markers.
View Article and Find Full Text PDFPrevalence of AZFс Y chromosome microdeletions and association with spermatogenesis in Russian men from the general population.
Vavilovskii Zhurnal Genet Selektsii
November 2024
Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
The Y chromosome contains a set of genes with testis-specific expression that are responsible for the development of testes and spermatogenesis, and it is the most important target in the search for genetic causes of male infertility. Most of these genes are located in the "azoospermia factor" AZF locus (regions AZFa, AZFb, and AZFc) on the long arm of the Y chromosome. Microdeletions of the Y chromosome, leading to the removal of the entire AZF locus as well as one or more regions (complete deletions), are one of the leading causes of spermatogenesis impairment and infertility.
View Article and Find Full Text PDFPrevalence and comparative analysis of Y chromosome microdeletions in recurrent pregnancy loss.
J Appl Genet
December 2024
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
Recurrent pregnancy loss (RPL) is defined as the spontaneous loss of two or more pregnancies before reaching viability. Diagnosis for couples with RPL usually involves only the female partner. However, it is seen that male partners contribute equally to the occurrence of spontaneous abortions as the Y chromosome harbors several genes that control spermatogenesis and the quality of sperms.
View Article and Find Full Text PDFEvaluation of clonal hematopoiesis and mosaic loss of Y chromosome in cardiovascular risk: An analysis in prospective studies.
Elife
December 2024
CHU de Bordeaux, Service des Maladies Coronaires et Vasculaires, Pessac, France.
Background: Clonal hematopoiesis of indeterminate potential (CHIP) was initially linked to a twofold increase in atherothrombotic events. However, recent investigations have revealed a more nuanced picture, suggesting that CHIP may confer only a modest rise in myocardial infarction (MI) risk. This observed lower risk might be influenced by yet unidentified factors that modulate the pathological effects of CHIP.
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