52 research outputs found

    The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26

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    Human tissues have two distinct cholinesterase activities: acetylcholinesterase and butyrylcholinesterase. Acetylcholinesterase functions in the transmission of nerve impulses, whereas the physiological function of butyrylcholinesterase remains unknown. An atypical form of butyrylcholinesterase or the absence of its activity leads to prolonged apnea following administration of the muscle relaxant suxamethonium. Inheritance of these butyrylcholinesterase variants is consistent with the enzyme activity being encoded in a single autosomal locus, BCHE (formerly CHE1 and E1), which has been assigned to chromosome 3. Previous in situ hybridization of a BCHE cDNA probe gave evidence of homologous sequences at 3q26 and 16q11-q23, raising the possibility of more than one locus coding for butyrylcholinesterase [20.] Hum. Genet. 77: 325-328]. Using a different cDNA probe hybridized in situ to 46,XX,inv(3)(p25q21) metaphase chromosomes, we report here the localization of BCHE to a single autosomal location: 3q26.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/29109/1/0000147.pd

    Quinacrine fluorescent chromosome analysis of the snell translocation in the mouse.

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    The chromosomes involved in the T(2;4)Sn (formerly designated T(5;8) Sn) or Snell translocation in the mouse have been identified as numbers 2 and 4 by analysis of the fluorescent banding patterns of quinacrine mustard-stained chromosomes in primary cultures from heterozygous and homozygous embryos

    Identification of the mouse karyotype by quinacrine fluorescence, and tentative assignment of seven linkage groups.

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    A karyotype of the mitotic chromosomes of the house mouse has been prepared based upon quinacrine fluorescence patterns. All 19 pairs of autosomes and the X and Y chromosomes have been identified. Examination of the chromosomes of the following translocation stocks, T(11;?)1Ald, T(3;?)6Ca, T(2;9)138Ca, T(2;12)163H, and T(9;13)190Ca, have led to the tentative assignments of autosomal linkage groups (LG) to chromosomes as follows: LGII to chromosome number 10 (or 13), LGIII to 12 or 15, LGIX to 16, LGXI to 6, LGXII to 19 and LGXIII to 1. By definition, LGXX is on the X chromosome
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