Heterozygote Detection

Publication Title: 
Clinical Genetics

A study of very early onset Huntington's disease (VEOHD) has shown that at least 38% of gene-carrying sibs also develop symptoms before the age of 10, thus improving the genetic risk for those sibs who remain healthy. The prevalence of VEOHD among sibs shows that mutation during spermatogenesis is most unlikely to account for these uncommon cases. The data suggest that two mechanisms contribute to VEOHD: modification by many genes (individually of small effect), and an epigenetic mechanism occurring when transmission is through a series of males.

Author(s): 
Clarke, D. J.
Bundey, S.
Publication Title: 
Current Opinion in Pharmacology

Neurochemical and structural prefrontal cortex abnormalities, including decreased reelin and glutamic acid decarboxylase (GAD)(67) expression, decreased thickness, increased neuronal packing density and decreased neuropil and dendritic spine number, are characteristics of schizophrenia neuropathology. Reelin is an extracellular matrix protein secreted by GABAergic interneurons that, acting through pyramidal neuron integrin receptors, provides a signal for dendritic spine plasticity.

Author(s): 
Costa, Erminio
Davis, John
Pesold, Christine
Tueting, Patricia
Guidotti, Alessandro
Publication Title: 
Journal of Neurology, Neurosurgery, and Psychiatry

BACKGROUND: Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-manifesting despite having reached an adequate age for penetrance. It is hypothesised that genetic, epigenetic and environmental factors may exert protective or deleterious effects on penetrance of AOPTD. By examining environmental exposure history in cervical dystonia patients and their similarly aged unaffected siblings we aimed to determine the role of previous environmental exposures in relation to disease penetrance.

Author(s): 
Molloy, Anna
Kimmich, Okka
Williams, Laura
Butler, John S.
Byrne, Niall
Molloy, Fiona
Moore, Helena
Healy, Daniel G.
Lynch, Tim
Edwards, Mark J.
Walsh, Cathal
Reilly, Richard B.
O'Riordan, Sean
Hutchinson, Michael
Publication Title: 
Psychological Science

Preferences for mates that possess genes dissimilar to one's own at the major histocompatibility complex (MHC), a polymorphic group of loci associated with the immune system, have been found in mice, birds, fish, and humans. These preferences may help individuals choose genetically compatible mates and may adaptively function to prevent inbreeding or to increase heterozygosity and thereby immunocompetence of offspring. MHC-dissimilar mate preferences may influence the psychology of sexual attraction.

Author(s): 
Garver-Apgar, Christine E.
Gangestad, Steven W.
Thornhill, Randy
Miller, Robert D.
Olp, Jon J.
Publication Title: 
Genetic Testing

This study sought to investigate the impact of BRCA1 and BRCA2 mutation searching on women previously diagnosed with breast or ovarian cancer. In-depth interviews were undertaken with 30 women who had undergone a BRCA1 and BRCA2 mutation search within the clinical setting. The main reasons reported for undergoing mutation searching were: to provide genetic information for other family members, general altruism, curiosity about the aetiology of cancer, and to provide information to facilitate risk management decisions.

Author(s): 
Hallowell, N.
Foster, C.
Ardern-Jones, A.
Eeles, R.
Murday, V.
Watson, M.
Publication Title: 
American Journal of Human Genetics

Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen (PBG) deaminase and is characterized by life-threatening neurovisceral attacks, often precipitated by drugs, fasting, cyclical hormonal changes, or infectious diseases. This report describes a prospective study on the molecular epidemiology of PBG deaminase gene defects in AIP.

Author(s): 
Puy, H.
Deybach, J. C.
Lamoril, J.
Robreau, A. M.
Da Silva, V.
Gouya, L.
Grandchamp, B.
Nordmann, Y.
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