Hidaka_2001_Clin.Chim.Acta_303_61

Reference

Title : Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping - Hidaka_2001_Clin.Chim.Acta_303_61
Author(s) : Hidaka K , Watanabe Y , Tomita M , Ueda N , Higashi M , Minatogawa Y , Iuchi I
Ref : Clinica Chimica Acta , 303 :61 , 2001
Abstract : We established a method to determine the butyrylcholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at -70 degrees C for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE variants were characterized by a single nucleotide substitution. Four of them were homozygotes and demonstrated a C-->T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T-->C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and a G-->C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available.
ESTHER : Hidaka_2001_Clin.Chim.Acta_303_61
PubMedSearch : Hidaka_2001_Clin.Chim.Acta_303_61
PubMedID: 11163024

Related information

Citations formats

Hidaka K, Watanabe Y, Tomita M, Ueda N, Higashi M, Minatogawa Y, Iuchi I (2001)
Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
Clinica Chimica Acta 303 :61

Hidaka K, Watanabe Y, Tomita M, Ueda N, Higashi M, Minatogawa Y, Iuchi I (2001)
Clinica Chimica Acta 303 :61

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    [paper] => Hidaka_2001_Clin.Chim.Acta_303_61
    [author] => Hidaka K || Watanabe Y || Tomita M || Ueda N || Higashi M || Minatogawa Y || Iuchi I
    [year] => 2001
    [title] => Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping
    [journal] => Clinica Chimica Acta
    [volume] => 303
    [page] => 61
    [medline] => 11163024
    [abstract] => Hidaka_2001_Clin.Chim.Acta_303_61
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            [longtext] => Hidaka_2001_Clin.Chim.Acta_303_61
            [content] => We established a method to determine the butyrylcholinesterase genotype associated with a BCHE deficiency directly using multiple PCR from stored serum, which was stored at -70 degrees C for more than 30 years. PCR products from sera of six propositi were used for DNA sequence analysis. All of these BChE variants were characterized by a single nucleotide substitution. Four of them were homozygotes and demonstrated a C-->T single nucleotide point mutation at codon 100 from CCA (Pro) to TCA (Ser). The fifth case was a heterozygote of this mutation. The remaining one was a compound heterozygote showing a T-->C transition mutation at codon 203 from TCA (Ser) to CCA (Pro) and a G-->C transversion mutation at codon 365 from GGA (Gly) to CGA (Arg). Furthermore we developed a method to determine the ABO genotype from the same serum. These results indicated that serum is useful as a starting material for amplification of genomic DNA when fresh blood samples are not available.
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