Literature DB >> 24500769

Random inbreeding, isonymy, and population isolates in Argentina.

José Dipierri1, Alvaro Rodríguez-Larralde, Italo Barrai, Jorge López Camelo, Esperanza Gutiérrez Redomero, Concepción Alonso Rodríguez, Virginia Ramallo, Rubén Bronberg, Emma Alfaro.   

Abstract

Population isolates are an important tool in identifying and mapping genes of Mendelian diseases and complex traits. The geographical identification of isolates represents a priority from a genetic and health care standpoint. The purpose of this study is to analyze the spatial distribution of consanguinity by random isonymy (F ST) in Argentina and its relationship with the isolates previously identified in the country. F ST was estimated from the surname distribution of 22.6 million electors registered for the year 2001 in the 24 provinces, 5 geographical regions, and 510 departments of the country. Statistically significant spatial clustering of F ST was determined using the SaTScan V5.1 software. F ST exhibited a marked regional and departamental variation, showing the highest values towards the North and West of Argentina. The clusters of high consanguinity by random isonymy followed the same distribution. Recognized Argentinean genetic isolates are mainly localized at the north of the country, in clusters of high inbreeding. Given the availability of listings of surnames in high-capacity storage devices for different countries, estimating F ST from them can provide information on inbreeding for all levels of administrative subdivisions, to be used as a demographic variable for the identification of isolates within the country for public health purposes.

Entities:  

Year:  2014        PMID: 24500769      PMCID: PMC4059845          DOI: 10.1007/s12687-013-0181-x

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  40 in total

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Review 2.  Genetics of population isolates.

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5.  On some novel aspects of consanguineous marriages.

Authors:  S Denic; N Nagelkerke; M M Agarwal
Journal:  Public Health Genomics       Date:  2010-12-10       Impact factor: 2.000

6.  Isonymic structure of the Argentine Northwest.

Authors:  J E Dipierri; A Rodríguez-Larralde; E L Alfaro; I Barrai
Journal:  Ann Hum Biol       Date:  2007 Jul-Aug       Impact factor: 1.533

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Journal:  Hum Hered       Date:  1996 Sep-Oct       Impact factor: 0.444

8.  Sandhoff disease: 36 cases from Cordoba, Argentina.

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9.  Long contiguous stretches of homozygosity in the human genome.

Authors:  Ling-Hui Li; Sheng-Feng Ho; Chien-Hsiun Chen; Chun-Yu Wei; Wan-Ching Wong; Li-Ying Li; Shuen-Iu Hung; Wen-Hung Chung; Wen-Han Pan; Ming-Ta M Lee; Fuu-Jen Tsai; Ching-Fen Chang; Jer-Yuarn Wu; Yuan-Tsong Chen
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  1 in total

1.  Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder.

Authors:  C Salvoro; S Bortoluzzi; A Coppe; G Valle; E Feltrin; M L Mostacciuolo; G Vazza
Journal:  Mol Neurobiol       Date:  2018-02-06       Impact factor: 5.590

  1 in total

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