Measurement and use of total plasma homocysteine
Article Abstract:
The importance of identifying the cause of hyperhomocysteinemia before treating it, based on possible harmful effects of inappropriate supplementation of involved cofactors and etiologies being complex, possibly genetic and environmental, is discussed. Accurate measurement of total plasma homocysteine (tHcy) depends on very careful sample collection, immediate separation/freezing of plasma, and using a specialized laboratory.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
Article Abstract:
A real-time method for quantitative PCR assay of the concentration of fetal DNA in maternal serum and plasma has been developed. There are implications for noninvasive prenatal diagnosis. Fetal DNA has now been shown to be in high concentrations in maternal plasma and it can be detected in the seventh gestational week. Concentration increases as the pregnancy goes on.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Uniparental disomies in unselected populations
Article Abstract:
Uniparental disomy (UPD), determined through genomic screening, may account for many recessive disorders. UPD, or the presence of chromosomes of only one parent in an individual, does not cause an evident phenotype but has been linked to conditions such as cystic fibrosis, hemophilia, Duchenne muscular dystrophy and complete congenital achromatopsia.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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- Abstracts: Development and characterization of microsatellite markers for genetic analysis of a Brazillian endangered tree species Caryocar brasiliense
- Abstracts: Phenotypic plasticity, genotype-by-environmental interaction and the analysis of generalism and specialization in Callosobruchus masculatus
- Abstracts: Phenotypic plasticity, genotype-by-environmental interaction and the analysis of generalism and specialization in Callosobruchus masculatus. part 2
- Abstracts: The trials and travels of tRNA. Switch from translation to RNA replication in a positive-stranded RNA virus
- Abstracts: Cloning and characterization of NADP-mannitol dehydrogenase cDNA from the button mushroom, Agaricus bisporus, and its expression in response to NaCl stress