Laboratory guidelines for Huntington disease genetic testing

Article Abstract:

Laboratory guidelines for genetic testing for Huntington's disease (HD) have been developed by the American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. The genetic testing for HD has been available since 1993, and it is estimated that 47,000 tests had been performed by 1996. Standardization of methods and terminology is needed. Recommendations cover standardization and interpretation of CAG repeat ranges of the IT-15 gene, definitions, laboratory standards and procedures, and research sample ownership.

Standards, Testing, Genetic screening, Genetic testing, Huntington's chorea, Huntington's disease, American Society of Human Genetics

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Genetic heterogeneity of mannose-binding proteins: the Jekyll and Hyde of innate immunity?

Article Abstract:

Mannose-binding protein (MBP) or mannan-binding lectin plays a role in first-line host defense, but can also be harmful to the host under certain conditions. MBP is a versatile circulating effector molecular that has a major role as an ante-antibody. It is able to recognize a variety of infectious agents. However, it can also play a role in autoimmune disorders and may promote survival of intracellular pathogens. The heterozygous state may have selective advantage.

Research, Genetic aspects, Lectins, Immunogenetics

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A geographically explicit genetic model of worldwide human-settlement history

Article Abstract:

A dynamic genetic model of human settlement history coupled with explicit geographical distances from East Africa, the likely origin of modern humans, is presented. The simulations have pointed to an expansion of modern humans approximately 56,000 years ago, starting from an ancestral source population of approximately 1,000 effective individuals, and have also suggested high population-growth rates within newly colonized demes.

Africa, Analysis, History, Human population genetics, Human settlements

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