Overview of Human Lineage Genetic Marker Studies in Bosnia and Herzegovina: Y chromosome story

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Aldin Pirić ◽  
Sabahudin Ćordić ◽  
Lejla Smajlović-Skenderagić ◽  
Serkan Dogan ◽  
Damir Marjanović ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Bosnia And Herzegovina ◽  
Human Genetics ◽  
Forensic Genetics ◽  
Human Migration ◽  
Gene Pools ◽  
Maternal Lineage ◽  
Marker Studies ◽  
Lineage Markers ◽  
Different Cultures

Abstract – Modern Bosnia and Herzegovina is a state consisting of multiple ethnicities and regions located in the Western Balkan, with a very complex history. The earliest historical findings show that its area was inhabited since the Paleolithic. From that time, this part of Europe, especially the region of the Modern Bosnia and Herzegovina, could be recognized as the crossroad for the different human migration and the meeting point for different cultures, religions and gene pools. Mitochondrial DNA is being used for maternal lineage testing, while the Y chromosome is being used for paternal lineage testing. Therefore, these markers are being referred to as lineage markers. Lineage markers are often used for parental lineage monitoring in population genetics, human genetics, as well as in forensic genetics. The main intention of this paper is to construct a short overview of the Y chromosome studies performed in Bosnia and Herzegovina within the last two decades.

scholarly journals Comparative study between Helicobacter pylori and host human genetics in the Dominican Republic

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Takaaki Ono ◽  
Modesto Cruz ◽  
José A. Jiménez Abreu ◽  
Hiroyuki Nagashima ◽  
Phawinee Subsomwong ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Mitochondrial Dna ◽  
Dominican Republic ◽  
Y Chromosome ◽  
Human Genetics ◽  
African Ancestry ◽  
Human Migration ◽  
High Genetic Diversity ◽  
H Pylori ◽  
Mtdna Haplogroup

Abstract Background Helicobacter pylori, a bacterium that infects the human stomach, has high genetic diversity. Because its evolution is parallel to human, H. pylori is used as a tool to trace human migration. However, there are few studies about the relationship between phylogeography of H. pylori and its host human. Methods We examined both H. pylori DNA and the host mitochondrial DNA and Y-chromosome DNA obtained from a total 119 patients in the Dominican Republic, where human demography consists of various ancestries. DNA extracted from cultured H. pylori were analyzed by multi locus sequence typing. Mitochondrial DNA and Y-chromosome DNA were evaluated by haplogroup analyses. Results H. pylori strains were divided into 2 populations; 68 strains with African group (hpAfrica1) and 51 strains with European group (hpEurope). In Y-chromosomal haplogroup, European origin was dominant, whereas African origin was dominant both in H. pylori and in mtDNA haplogroup. These results supported the hypothesis that mother-to-child infection is predominant in H. pylori infection. The Amerindian type of mtDNA haplogroup was observed in 11.8% of the patients; however, Amerindian type (hspAmerind) of H. pylori was not observed. Although subpopulation type of most hpAfrica1 strains in Central America and South America were hybrid (hspWAfrica/hpEurope), most Dominican Republic hpAfrica1 strains were similar to those of African continent. Conclusions Genetic features of H. pylori, mtDNA, and Y haplogroups reflect the history of colonial migration and slave trade in the Dominican Republic. Discrepancy between H. pylori and the host human genotypes support the hypothesis that adaptability of hspAmerind H. pylori strains are weaker than hpEurope strains. H. pylori strains in the Dominican Republic seem to contain larger proportion of African ancestry compared to other American continent strains.

scholarly journals Recommendations of the Polish Speaking Working Group of the International Society for Forensic Genetics on forensic Y chromosome typing

2020 ◽  
Vol 70 (1) ◽  
pp. 1-18
Author(s):  
Krzysztof Rębała ◽  
Wojciech Branicki ◽  
Ryszard Pawłowski ◽  
Magdalena Spólnicka ◽  
Tomasz Kupiec ◽  
...  
Keyword(s):  
Y Chromosome ◽  
International Society ◽  
Working Group ◽  
Forensic Genetics

scholarly journals Genealogy: The Tree Where History Meets Genetics

Genealogy ◽  
2021 ◽  
Vol 5 (4) ◽  
pp. 98
Author(s):  
Cláudia Gomes ◽  
Sara Palomo-Díez ◽  
Ana María López-Parra ◽  
Eduardo Arroyo-Pardo
Keyword(s):  
Genetic Analysis ◽  
Y Chromosome ◽  
Social Relationships ◽  
Historical Record ◽  
Geographic Region ◽  
Point Of View ◽  
Human Beings ◽  
Deceased Person ◽  
Lineage Markers ◽  
Historical Moment

Although biological relationships are a universal reality for all human beings, the concepts of “family” and “family bond” depend on both the geographic region and the historical moment to which they refer. However, the concept of “family” can be determinant in a large variety of societies, since it can influence the lines of succession, inheritances and social relationships, as well as where and with whom an individual is buried. The relation between a deceased person and other members of a community, other individuals of the same necropolis, or even with those who are buried in the same tomb can be analysed from the genetic point of view, considering different perspectives: archaeological, historical, and forensic. In the present work, the concepts of “family” and “kinship” are discussed, explaining the relevance of genetic analysis, such as nuclear and lineage markers, and their contribution to genealogical research, for example in the heritage of surnames and Y-chromosome, as well as those cases where some discrepancies with historical record are detected, such as cases of adoption. Finally, we explain how genetic genealogical analyses can help to solve some cold cases, through the analysis of biologically related relatives.

scholarly journals Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesco Ravasini ◽  
Eugenia D’Atanasio ◽  
Maria Bonito ◽  
Biancamaria Bonucci ◽  
Chiara Della Rocca ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Tandem Repeats ◽  
Forensic Genetics ◽  
Read Depth ◽  
Duplication Event ◽  
Forensic Analysis ◽  
Deletion Event ◽  
Monophyletic Cluster ◽  
Depth Analysis ◽  
Factor C

The azoospermia factor c region (AZFc), located in the long arm of the human Y chromosome, is frequently involved in chromosome rearrangements, mainly due to non-allelic homologous recombination events that occur between the nearly identical sequences (amplicon) that comprises it. These rearrangements may have major phenotypic effects like spermatogenic failure or other pathologies linked to male infertility. Moreover, they may also be relevant in forensic genetics, since some of the Y chromosome short tandem repeats (Y-STRs) commonly used in forensic analysis are located in amplicons or in inter-amplicon sequences of the AZFc. In a previous study, we identified four phylogenetically related samples with a null allele at DYS448 and a tetrallelic pattern at DYF387S1, two Y-STRs located in the AZFc. Through NGS read depth analysis, we found that the unusual Y-STR pattern may be due to a 1.6 Mb deletion arising concurrently or after a 3.5 Mb duplication event. The observed large genomic rearrangement results in copy number reduction for the RBMY gene family as well as duplication of other AZFc genes. Based on the diversity of 16 additional Y-STRs, we estimated that the duplication/deletion event occurred at least twenty generations ago, suggesting that it has not been affected by negative selection.

scholarly journals CSYseq: The first Y-chromosome sequencing tool typing a large number of Y-SNPs and Y-STRs to unravel worldwide human population genetics

PLoS Genetics ◽  
2021 ◽  
Vol 17 (9) ◽  
pp. e1009758
Author(s):  
Sofie Claerhout ◽  
Paulien Verstraete ◽  
Liesbeth Warnez ◽  
Simon Vanpaemel ◽  
Maarten Larmuseau ◽  
...  
Keyword(s):  
Population Genetics ◽  
Y Chromosome ◽  
Tandem Repeats ◽  
Forensic Genetics ◽  
Genetic Research ◽  
Background Information ◽  
Nucleotide Polymorphisms ◽  
Wide Range ◽  
Male Specific ◽  
Paired End Sequencing

Male-specific Y-chromosome (chrY) polymorphisms are interesting components of the DNA for population genetics. While single nucleotide polymorphisms (Y-SNPs) indicate distant evolutionary ancestry, short tandem repeats (Y-STRs) are able to identify close familial kinships. Detailed chrY analysis provides thus both biogeographical background information as paternal lineage identification. The rapid advancement of high-throughput massive parallel sequencing (MPS) technology in the past decade has revolutionized genetic research. Using MPS, single-base information of both Y-SNPs as Y-STRs can be analyzed in a single assay typing multiple samples at once. In this study, we present the first extensive chrY-specific targeted resequencing panel, the ‘CSYseq’, which simultaneously identifies slow mutating Y-SNPs as evolution markers and rapid mutating Y-STRs as patrilineage markers. The panel was validated by paired-end sequencing of 130 males, distributed over 65 deep-rooted pedigrees covering 1,279 generations. The CSYseq successfully targets 15,611 Y-SNPs including 9,014 phylogenetic informative Y-SNPs to identify 1,443 human evolutionary Y-subhaplogroup lineages worldwide. In addition, the CSYseq properly targets 202 Y-STRs, including 81 slow, 68 moderate, 27 fast and 26 rapid mutating Y-STRs to individualize close paternal relatives. The targeted chrY markers cover a high average number of reads (Y-SNP = 717, Y-STR = 150), easy interpretation, powerful discrimination capacity and chrY specificity. The CSYseq is interesting for research on different time scales: to identify evolutionary ancestry, to find distant family and to discriminate closely related males. Therefore, this panel serves as a unique tool valuable for a wide range of genetic-genealogical applications in interdisciplinary research within evolutionary, population, molecular, medical and forensic genetics.

DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

2001 ◽  
Vol 114 (6) ◽  
pp. 305-309 ◽  
Author(s):  
P. Gill ◽  
C. Brenner ◽  
B. Brinkmann ◽  
B. Budowle ◽  
A. Carracedo ◽  
...  
Keyword(s):  
Y Chromosome ◽  
International Society ◽  
Forensic Genetics ◽  
Forensic Analysis

scholarly journals Phenotype Manifestations of Polysomy X At Males

2008 ◽  
Vol 8 (3) ◽  
pp. 287-290
Author(s):  
Amra Ćatović
Keyword(s):  
Bosnia And Herzegovina ◽  
Sexual Maturity ◽  
Human Genetics ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Normal Karyotype ◽  
Male Hypogonadism ◽  
Endocrine Disorder ◽  
Sex Chromosome Aneuploidy ◽  
Frequent Form

Klinefelter Syndrome is the most frequent form of male hypogonadism. It is an endocrine disorder based on sex chromosome aneuploidy. Infertility and gynaecomastia are the two most common symptoms that lead to diagnosis. Diagnosis of Klinefelter syndrome is made by karyotyping. Over 20 years period (1985-2004) 124 patients have been sent to “Center for Human Genetics” of Faculty of Medicine in Sarajevo from different medical centres within Federation of Bosnia and Herzegovina with diagnosis suspecta Klinefelter syndrome, azoospermia, sterilitas primaria and hypogonadism for cytogenetic evaluation. Normal karyotype was found in 99 (79,8%) subjects, and karyotype was changed in 25 (20,2%) subjects. Polysomy X was found in 14 (11,3%) examinees. Polysomy X was expressed at the age of sexual maturity in the majority of the cases. Our results suggest that indication for chromosomal evaluation needs to be established at a very young age.

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