Clinical genetics and the Hutterite population: A review of Mendelian disorders
| Autor: | Julian P. Midgley, Kym M. Boycott, Albert E. Chudley, Cheryl R. Greenberg, Lisbeth Birk Møller, D. Ross McLeod, R. Brian Lowry, A. Micheil Innes, B. N. Chodirker, Jillian S. Parboosingh, Francois P. Bernier, Jackie Morris |
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| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Genetics Medical Population Genes Recessive Biology Gene mapping Genetics medicine Humans education Mendelian disorders Genetics (clinical) education.field_of_study Genetic Diseases Inborn Infant Founder Effect Genetics Population Protestantism Mutation North America Mutation (genetic algorithm) Etiology Medical genetics Identification (biology) Founder effect |
| Zdroj: | American Journal of Medical Genetics Part A. :1088-1098 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | The Hutterian Bretheren is an isolated population living on the North American prairies, the current community exceeding 40,000 in number. Their unique genetic history has contributed to a founder effect, which is reflected in the Mendelian disorders present in this population today. Genetic studies in the Hutterite population have led to the identification of a number of genes over the last several years and highlights the power of this population for gene identification. However, for the more than 30 autosomal recessive conditions currently recognized in this population, the gene or Hutterite specific mutation remains to be identified for over half and novel autosomal recessive syndromes continue to be recognized. This review summarizes what is currently understood about the molecular etiology of the Mendelian disorders and highlights the cardinal features of those disorders that are unique to or over-represented in this population. |
| Databáze: | OpenAIRE |
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