Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite
Article Abstract:
Researchers have carried out polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite, age 5 . Involvement in two fertilization events is suggested by the findings which show possible double paternal and single maternal genetic contributions. The most likely mechanism would be a single haploid ovum dividing parthenogentically into two haploid ova followed by double fertilization and fusion of two zygotes. Mechanisms that cause mosaicisms related to true hermaphroditism in humans are not well understood. Usually analyses of hermaphrodites have been limited to cytogenetic investigations.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes
Article Abstract:
A functional human gene network is developed that integrates information on genes and the functional relationships between genes, based on data from the Kyoto Encyclopedia of Genes and Genomes, the Bimolecular Interaction Network Database, Reactome, the Human Protein Reference Database and Gene Ontology database. This network was applied to interrelate positional candidate genes from different disease loci and then tested 96 heritable disorders for which the Online Mendelian Inheritance in Man database reported at least three disease genes.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
Article Abstract:
The article presents the association of type 1 diabetes (TID) with rheumatoid arthritis (RA) with the chromosome 4q27 region. The association shows locus as a general autoimmune risk factor.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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