premature chromatid separation trait

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premature chromatid separation trait2016-11-27T20:22:39+00:00

premature chromatid separation trait

GENETICS

Definition An autosomal dominant disorder (OMIM:176430) characterised by separate and splayed chromatids with discernible centromeres involving all or most chromosomes of a metaphase. Premature chromatid separation—PCS occurs in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is termed heterozygous PCS trait and has no obvious phenotypic effect; some individuals have reported decreased fertility.

Molecular pathology Defects of BUB1B, which encodes a kinase that is an essential component of the mitotic checkpoint–MC and required for normal mitosis progression, cause premature chromatid separation trait.

Synonym Total premature chromatid separation trait  

Reference http://www.uniprot.org/uniprot/O60566

http://www.omim.org/entry/176430 

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