Literature DB >> 12030885

Genetics of population isolates.

M Arcos-Burgos1, M Muenke.   

Abstract

Genetic isolates, as shown empirically by the Finnish, Old Order Amish, Hutterites, Sardinian and Jewish communities among others, represent a most important and powerful tool in genetically mapping inherited disorders. The main features associated with that genetic power are the existence of multigenerational pedigrees which are mostly descended from a small number of founders a short number of generations ago, environmental and phenotypic homogeneity, restricted geographical distribution, the presence of exhaustive and detailed records correlating individuals in very well ascertained pedigrees, and inbreeding as a norm. On the other hand, the presence of a multifounder effect or admixture among divergent populations in the founder time (e.g. the Finnish and the Paisa community from Colombia) will theoretically result in increased linkage disequilibrium among adjacent loci. The present review evaluates the historical context and features of some genetic isolates with emphasis on the basic population genetic concepts of inbreeding and genetic drift, and also the state-of-the-art in mapping traits, both Mendelian and complex, on genetic isolates.

Entities:  

Mesh:

Year:  2002        PMID: 12030885     DOI: 10.1034/j.1399-0004.2002.610401.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  75 in total

1.  Amish, mennonite, and hutterite genetic disorder database.

Authors:  Michael Payne; C Anthony Rupar; Geoffrey M Siu; Victoria Mok Siu
Journal:  Paediatr Child Health       Date:  2011-03       Impact factor: 2.253

2.  Linkage and association of successful aging to the 6q25 region in large Amish kindreds.

Authors:  Digna R Velez Edwards; John R Gilbert; James E Hicks; Jamie L Myers; Lan Jiang; Anna C Cummings; Shengru Guo; Paul J Gallins; Ioanna Konidari; Laura Caywood; Lori Reinhart-Mercer; Denise Fuzzell; Claire Knebusch; Renee Laux; Charles E Jackson; Margaret A Pericak-Vance; Jonathan L Haines; William K Scott
Journal:  Age (Dordr)       Date:  2012-07-07

3.  Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.

Authors:  Eimear E Kenny; Minseung Kim; Alexander Gusev; Jennifer K Lowe; Jacqueline Salit; J Gustav Smith; Sirisha Kovvali; Hyun Min Kang; Christopher Newton-Cheh; Mark J Daly; Markus Stoffel; David M Altshuler; Jeffrey M Friedman; Eleazar Eskin; Jan L Breslow; Itsik Pe'er
Journal:  Hum Mol Genet       Date:  2010-11-30       Impact factor: 6.150

4.  Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population.

Authors:  Steven M Bray; Jennifer G Mulle; Anne F Dodd; Ann E Pulver; Stephen Wooding; Stephen T Warren
Journal:  Proc Natl Acad Sci U S A       Date:  2010-08-26       Impact factor: 11.205

5.  Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability.

Authors:  Guangju Zhai; Jiayi Zhou; Michael O Woods; Jane S Green; Patrick Parfrey; Proton Rahman; Roger C Green
Journal:  Eur J Hum Genet       Date:  2015-12-16       Impact factor: 4.246

6.  Neuropsychological and dimensional behavioral trait profiles in Costa Rican ADHD sib pairs: Potential intermediate phenotypes for genetic studies.

Authors:  Viviana A Peskin; Anna Ordóñez; R Scott Mackin; Kevin Delucchi; Silvia Monge; James J McGough; Denise A Chavira; Monica Berrocal; Erika Cheung; Eduardo Fournier; Judith A Badner; Luis Diego Herrera; Carol A Mathews
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2015-03-31       Impact factor: 3.568

7.  Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Authors:  N Maksimova; K Hara; A Miyashia; I Nikolaeva; A Shiga; A Nogovicina; A Sukhomyasova; V Argunov; A Shvedova; T Ikeuchi; M Nishizawa; R Kuwano; O Onodera
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

8.  Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia.

Authors:  Miguel A Alfonso-Sánchez; Cristina Martínez-Bouzas; Azucena Castro; Jose A Peña; Isabel Fernández-Fernández; Rene J Herrera; Marian M de Pancorbo
Journal:  J Hum Genet       Date:  2006-04-01       Impact factor: 3.172

9.  Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes.

Authors:  Marta Costa; Alessio Squassina; Ignazio Stefano Piras; Claudia Pisanu; Donatella Congiu; Paola Niola; Andrea Angius; Caterina Chillotti; Raffaella Ardau; Giovanni Severino; Erminia Stochino; Arianna Deidda; Antonio M Persico; Martin Alda; Maria Del Zompo
Journal:  J Mol Neurosci       Date:  2015-04-28       Impact factor: 3.444

10.  Mutation history of the roma/gypsies.

Authors:  Bharti Morar; David Gresham; Dora Angelicheva; Ivailo Tournev; Rebecca Gooding; Velina Guergueltcheva; Carolin Schmidt; Angela Abicht; Hanns Lochmuller; Attila Tordai; Lajos Kalmar; Melinda Nagy; Veronika Karcagi; Marc Jeanpierre; Agnes Herczegfalvi; David Beeson; Viswanathan Venkataraman; Kim Warwick Carter; Jeff Reeve; Rosario de Pablo; Vaidutis Kucinskas; Luba Kalaydjieva
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025

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