The butyrylcholinesterase gene (BCHE) at 3q26.2 shows two RFLPs
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چکیده
منابع مشابه
Two RFLPs at the TNP1 locus.
Source/Description: The Human Transition Protein 1 gene (TNP1) probe (1) used was a 700 bp genomic DNA sequence cloned into the Smal site of pUC8 and was supplied by W.Engel. Polymorphisms: TNP1 identifies a two allele polymorphism with TaqI: Al = 9.6 kb; A2 = 8.4 kb. Frequency: Analysis of 20 unrelated individuals yielded frequencies: Al = 0.23; A2 = 0.77. Rsal in a screen of 10-20 unrelated i...
متن کاملThe cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26.
Human tissues have two distinct cholinesterase activities: acetylcholinesterase and butyrylcholinesterase. Acetylcholinesterase functions in the transmission of nerve impulses, whereas the physiological function of butyryl-cholinesterase remains unknown. An atypical form of butyrylcholinesterase or the absence of its activity leads to prolonged apnea following administration of the muscle relax...
متن کاملAbsence of the -116A variant of the butyrylcholinesterase BCHE gene in Guarani Amerindians from Mato Grosso do Sul
Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity. The present study analyzed the -116 single nucleotide polymor...
متن کاملInvestigation of Association between Susceptibility to Leprosy and SNPs inside and near the BCHE Gene of Butyrylcholinesterase
Leprosy is a chronic disease caused by Mycobacterium leprae and affects the skin and the peripheral nervous system. Butyrylcholinesterase is coded by the BCHE gene, and the atypical allele (70G; rs1799807) has been investigated as a leprosy risk factor, with conflicting results. The present study estimated the frequencies of variants of rs1799807 and of five additional SNPs at the BCHE gene or ...
متن کاملProblem with detection of an insertion-type mutation in the BCHE gene in a patient with butyrylcholinesterase deficiency.
Problem with Detection of an Insertion-Type Mutation in the BCHE Gene in a Patient with Butyrylcholinesterase Deficiency, Masato Maekawa, Terumi Taniguchi, Jinko Ishikawa, Shigeru Toyoda, and Noriko Takahata ( Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan; 2 Department of Pediatrics, Hospital affiliated with Kanagawa Prefecture School of Nursing an...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1991
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/19.18.5088