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Journal ArticleDOI

In the name of the father: surnames and genetics

01 Jun 2001-Trends in Genetics (Elsevier)-Vol. 17, Iss: 6, pp 353-357
TL;DR: Recent studies involving Y-chromosomal haplotyping and surname analysis are promising and indicate that genealogists of the future could be turning to records written in DNA, as well as in paper archives, to solve their problems.
About: This article is published in Trends in Genetics.The article was published on 2001-06-01. It has received 191 citations till now. The article focuses on the topics: Patronymic surname.
Citations
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Journal ArticleDOI
TL;DR: The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved phylogeny and insights into its mutation processes, now provide new avenues for investigating human evolution.
Abstract: Until recently, the Y chromosome seemed to fulfil the role of juvenile delinquent among human chromosomes — rich in junk, poor in useful attributes, reluctant to socialize with its neighbours and with an inescapable tendency to degenerate. The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved phylogeny and insights into its mutation processes, now provide new avenues for investigating human evolution. Y-chromosome research is growing up.

917 citations

Journal ArticleDOI
TL;DR: A simple set of rules was developed to unambiguously label the different clades nested within a single most parsimonious phylogeny, which supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.
Abstract: The Y chromosome contains the largest nonrecombining block in the human genome. By virtue of its many polymorphisms, it is now the most informative haplotyping system, with applications in evolutionary studies, forensics, medical genetics, and genealogical reconstruction. However, the emergence of several unrelated and nonsystematic nomenclatures for Y-chromosomal binary haplogroups is an increasing source of confusion. To resolve this issue, 245 markers were genotyped in a globally representative set of samples, 74 of which were males from the Y Chromosome Consortium cell line repository. A single most parsimonious phylogeny was constructed for the 153 binary haplogroups observed. A simple set of rules was developed to unambiguously label the different clades nested within this tree. This hierarchical nomenclature system supersedes and unifies past nomenclatures and allows the inclusion of additional mutations and haplogroups yet to be discovered.

797 citations

Journal ArticleDOI
TL;DR: Improvements in genotyping technologies have led to the increased use of genetic polymorphism for inference about population phenomena, such as migration and selection, which presents a challenge in analysis of polymorphism data.
Abstract: Improvements in genotyping technologies have led to the increased use of genetic polymorphism for inference about population phenomena, such as migration and selection. Such inference presents a challenge, because polymorphism data reflect a unique, complex, non-repeatable evolutionary history. Traditional analysis methods do not take this into account. A stochastic process known as the 'coalescent' presents a coherent statistical framework for analysis of genetic polymorphisms.

677 citations


Cites background from "In the name of the father: surnames..."

  • ...This is sometimes true, for example, when Y chromosomes are used to study patrilineal inheritance of surname...

    [...]

Journal ArticleDOI
TL;DR: For example, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases as mentioned in this paper.
Abstract: Sherlock Holmes said "it has long been an axiom of mine that the little things are infinitely the most important", but never imagined that such a little thing, the DNA molecule, could become perhaps the most powerful single tool in the multifaceted fight against crime. Twenty years after the development of DNA fingerprinting, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases.

548 citations

BookDOI
29 Nov 2004
TL;DR: The Frequentist Approaches Bayesian Approaches Statistical Evaluation of Mixtures Low Copy Number and Interpretation Issues Associated with DNA Databases are discussed.
Abstract: Biological Basis for DNA Evidence, Peter Gill and John Buckleton Historical and Background Biology Understanding PCR Profiles A Framework for Interpreting Evidence, John Buckleton The Frequentist Approach The Logical Approach The Full Bayesian Approach A Possible Solution A Comparison of the Different Approaches Population Genetic Models, John Buckleton Product Rule Simulation Testing Discussion of the Product Rule and the Subpopulation Model A Complex Case Example - DNA Evidence and Orethral James Simpson Relatedness, John Buckleton and Christopher Triggs Conditional Probabilities Joint Probabilities The Unifying Formula The Effect of Linkage Validating Databases, John Buckleton Which Is the Relevant Population? Population Databases Validating the Population Genetic Model Estimating Q Descriptive Statistics for Databases Sampling Effects, John Buckleton and James Curran Bounds and a Level Methods for Assessing Sampling Uncertainty Minimum Allele Probabilities Discussion of the Appropriateness of Sampling Uncertainty Estimates Mixtures, Tim Clayton and John Buckleton Frequentist Approaches Bayesian Approaches Statistical Evaluation of Mixtures Low Copy Number, John Buckleton and Peter Gill Changes in LCN Profile Morphology The Interpretation of LCN Profiles Non-autosomal Forensic Markers, Simon Walsh, SallyAnn Harbison, and John Buckleton Forensic Mitochondrial DNA Typing Forensic Y Chromosome Analysis Forensic X Chromosome Analysis A Famous Case Example - The Romanovs Parentage Testing, John Buckleton, Tim Clayton, and Chris Triggs Evaluation Of Evidence Paternity Trios: Mother, Child and Alleged Father Non-autosomal DNA Use of the Sub-Population Model of Balding and Nichols to Evaluate the Paternity Index Relatedness in Paternity Cases Multiple Children Inconsistencies in the Mendelian Pattern 'Exclusions' Paternity Trios: Mother, Child and Alleged Father Considering the Possibility of Silent (Null) Alleles Disaster Victim Identification, Identification of Missing Persons, and Immigration Cases, John Buckleton, Chris Triggs, and Tim Clayton Mitochondrial or Nuclear DNA? Human Remains - Obtaining a Profile from Bodily Remains Extraction of DNA from Bone, Tooth, Hair and Nail Complicating Factors DNA Intelligence Databases, Simon Walsh and John Buckleton A Brief History Functional Aspects Legislation Aspects of Forensic Significance Social and ethical considerations Interpretation Issues Associated with DNA Databases

362 citations

References
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Journal ArticleDOI
TL;DR: Y-specific STR loci have been analysed in 711 males from 12 populations in Pakistan, finding two striking examples of haplotype sharing, one involving 13 individuals, and the other 17, providing evidence for population substructuring.

37 citations

Journal ArticleDOI
TL;DR: There remains a substantial excess of premature deaths among Irish men which is unaccounted for by established risk factors, mainly attributable to cardiovascular deaths.
Abstract: Background Men with patrilineal Irish descent from the immigrations of the nineteenth and twentieth centuries have higher death rates from ‘all-causes’ and, specifically, cardiovascular disease (CVD) than the general population of the West of Scotland. Methods A total of 5766 male employees from 27 workplace settings were examined between 1970 and 1973. Surname analysis identified 15 per cent of these men as of patrilineal Irish heritage. For those who have since died, the date and cause of death was obtained. Cox’s proportional hazards model was used to compare the mortality risk of those with Irish and non-Irish surnames, and to investigate established medical, physiological, behavioural and socio-economic risk factors (acting in early and later life) as possible explanations for this excess mortality. Results The relative risk of death from all causes for the Irish of 1.26 (95 per cent confidence interval (CI) (1.12, 1.43)) was reduced to 1.12 (95 per cent CI (0.99, 1.26)) by including established risk factors in the model. The relative risk of CVD mortality of 1.51 (95 per cent CI (1.29, 1.77)) for the Irish was reduced to 1.35 (95 per cent CI (1.14, 1.58)) by the same adjustments. The elevated all-cause mortality of the Irish was mainly attributable to cardiovascular deaths. Conclusions Cigarette smoking was only able to ‘explain’ a small amount of the excess all-cause and CVD mortality of men with patrilineal Irish descent. Relative deprivation during childhood and adulthood contributed to the high Irish mortality. However, there remains a substantial excess of premature deaths among Irish men which is unaccounted for by established risk factors.

36 citations

Journal Article
TL;DR: The method of isonymy, developed by Crow and Mange for estimating inbreeding from surname frequencies, requires an assumption that has not been appreciated: it is necessary to assume that all males in some ancestral generation, the founding stock, had unique surnames.
Abstract: The method of isonymy, developed by Crow and Mange for estimating inbreeding from surname frequencies, requires an assumption that has not been appreciated: It is necessary to assume that all males in some ancestral generation, the founding stock, had unique surnames. Because this assumption is seldom justified in real populations, the applicability of the isonymy method is extremely limited. Even worse, the estimates it provides refer to an unspecified founding stock, and this implies that these estimates are devoid of information.

29 citations