SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit.

Abstract:

:The single-strand conformation polymorphism (SSCP) procedure has been applied in routine testing for hereditary diseases. Temperature, running buffer, gel composition, and fragment length can influence its sensitivity. Mutation detection in the clinical setting depends on the development of automated technology, especially for large genes, such as the dihydropyrimidine dehydrogenase (DPYD) gene, which codes the initial, rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). The authors have optimized the condition of SSCP with an automated system (GenePhor system, GE Healthcare UK Ltd.) to screen genetic polymorphisms in the DPYD gene. The efficiency of the method was evaluated using 21 positive controls (DNA samples with polymorphisms in the DPYD gene, previously characterized) and DNA samples from 35 Japanese. Results showed that the use of three different running buffers (pH 7.4, 8.3, and 9.0) in combination with other optimized conditions (10% polyacrylamide gel, 60-90 min at constant 900 V at 5 degrees C) resulted in a high polymorphism detection rate (95.3%), which was considered appropriate for routine screening. Therefore, this strategy could be useful for pharmacogenetic studies on 5FU.

journal_name

Biochem Genet

journal_title

Biochemical genetics

authors

Okamoto Y,Ueta A,Sumi S,Ito T,Okubo Y,Jose Y,Ninomiya A,Togari H,Nishida M

doi

10.1007/s10528-007-9109-7

subject

Has Abstract

pub_date

2007-10-01 00:00:00

pages

713-24

issue

9-10

eissn

0006-2928

issn

1573-4927

journal_volume

45

pub_type

杂志文章
  • Regulation of hemocytes in Drosophila requires dappled cytochrome b5.

    abstract::A major category of mutant hematopoietic phenotypes in Drosophila is melanotic tumors or nodules, which consist of abnormal and overproliferated blood cells, similar to granulomas. Our analyses of the melanotic mutant dappled have revealed a novel type of gene involved in blood cell regulation. The dappled gene is an ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-010-9411-7

    authors: Kleinhesselink K,Conway C,Sholer D,Huang I,Kimbrell DA

    更新日期:2011-06-01 00:00:00

  • Quantitative analysis of the amount of larval serum protein-1 (LSP-1) synthesized by flies with different doses of the LSP-1 coding sequences.

    abstract::Larval serum protein-1 (LSP-1) and LSP-2 are the major proteins of Drosophila larval serum. The amount of LSP-1 synthesized is strictly proportional to the number of LSP-1 genes present within the range 1-10. The normal number in female flies is 6. Flies with extreme amounts of LSP-1 were, by our criteria, as fit as t...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00499473

    authors: Roberts DB,Blackwell SA,Loughlin SA

    更新日期:1984-10-01 00:00:00

  • PCR amplification of a locus with RFLP alleles specific to African honey bees.

    abstract::An anonymous honey bee locus, detected previously with a cloned probe, has HhaI RFLP alleles specific to African bees or common to both African and European bees. To facilitate identification of these alleles, this region, 1231, was made analyzable with the PCR. The two halves of the region, excluding the termini, wer...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1023/a:1018797429804

    authors: Hall HG

    更新日期:1998-10-01 00:00:00

  • Mitochondrial DNA-Based Analyses of Relatedness Among Turkeys, Meleagris gallopavo.

    abstract::The domesticated turkey, Meleagris gallopavo, is believed to be a single breed with several varieties whose relatedness and origins remain poorly understood. Using the mitochondrial genome sequence (GenBank accession no. EF153719) that our group first reported, we investigated the relationships among 15 of the most wi...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-015-9668-y

    authors: Guan X,Silva P,Gyenai K,Xu J,Geng T,Smith E

    更新日期:2015-04-01 00:00:00

  • Rapid enzyme kinetic assays of individual Drosophila and comparisons of field-caught D. melanogaster and D. simulans.

    abstract::Techniques for performing numerous enzyme kinetic assays with minimum time and effort would be valuable to studies of the evolutionary genetics of metabolic control and the quantitative genetics of determinants of kinetic parameters. Microtiter plate readers have been used for a variety of repetitious analytical techn...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00554162

    authors: Clark AG,Keith LE

    更新日期:1989-06-01 00:00:00

  • Novel Biomarkers for Non-functioning Invasive Pituitary Adenomas were Identified by Using Analysis of microRNAs Expression Profile.

    abstract::The microRNAs (miRNAs) are involved in multiple pathological processes among various types of tumors. However, the functions of miRNAs in benign brain tumors are largely unexplored. In order to explore the pathogenesis of the invasiveness in non-functional pituitary adenoma (NFPA), the miRNAs expression profile was an...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-017-9794-9

    authors: Wu S,Gu Y,Huang Y,Wong TC,Ding H,Liu T,Zhang Y,Zhang X

    更新日期:2017-06-01 00:00:00

  • Thermal kinetic differences between allelic isozymes of malate dehydrogenase (Mdh-B locus) of largemouth bass, Micropterus salmoides.

    abstract::Two alleles are encoded at the malate dehydrogenase locus in largemouth bass, Micropterus salmoides. Populations in the extreme northern areas of the range of this fish are fixed or nearly fixed for the B1 allele, whereas populations in Florida are fixed for the alternative allele, B2. The MDH-B1B1 and MDH-B2B2 alleli...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00488466

    authors: Hines SA,Philipp DP,Childers WF,Whitt GS

    更新日期:1983-12-01 00:00:00

  • Assignment of six enzyme loci to multipoint linkage groups in fishes of the genus Poeciliopsis (Poeciliidae): designation of linkage groups III-V.

    abstract::Three new linkage groups of enzyme loci are described using Poeciliopsis monacha x P. viriosa-derived interspecific backcross hybrids. Comparison to known linkage groups of the confamilial genus Xiphophorus shows homology between Xiphophorus linkage group I and Poeciliopsis linkage group III, Xiphophorus linkage group...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00554823

    authors: Morizot DC,Schultz RJ,Wells RS

    更新日期:1990-02-01 00:00:00

  • Morphological Characterization and Gene Expression Patterns for Melanin Pigmentation in Rex Rabbit.

    abstract::Animal melanin has an important role in the formation of animal fur and skin, which is determined by its quantities, character, and distribution. To identify the effect of melanin on the formation of multi-colored Rex rabbits (Black, Chinchilla, Beaver, Protein cyan, Protein yellow, White), the structure of hair folli...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-019-09929-x

    authors: Hu S,Zhai P,Chen Y,Zhao B,Yang N,Wang M,Xiao Y,Bao G,Wu X

    更新日期:2019-10-01 00:00:00

  • Assessment of genetic structure of Greek brown hare (Lepus europaeus) populations based on variation in random amplified polymorphic DNA (RAPD).

    abstract::The RAPD method was used to assess the genetic differentiation of brown hare (Lepus europaeus) populations from Central Greece. Greek wild populations were compared with samples from Austria, Poland, Germany, France, and Bulgaria, as well as with reared/released hares to investigate the impact of the releases on the n...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1023/a:1020260819629

    authors: Mamuris Z,Sfougaris AI,Stamatis C,Suchentrunk F

    更新日期:2002-10-01 00:00:00

  • The primary structure of genetic variants of mouse hemoglobin.

    abstract::The primary structures of the alpha globins from CE/J, DBA/2J, and a stock of Potter's mice were determined to identify the amino acid substitutions associated with the unique isoelectric focusing patterns of these hemoglobins. In addition, the primary structures of the alpha globins from MOL III and PERU mice were st...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484946

    authors: Popp RA,Bailiff EG,Skow LC,Whitney JB 3rd

    更新日期:1982-02-01 00:00:00

  • The expression of creatine kinase isozymes in Xenopus tropicalis, Xenopus laevis laevis, and their viable hybrid.

    abstract::Starch gel electrophoresis of creatine kinase (CK) isozymes of Xenopus tropicalis shows that at least two different genes code for CK in this diploid (2n = 20) species. These genes seen to be orthologous to the CK-A and CK-C genes of extant crossopterygian fish. Additional isozymes may be interpreted either as product...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00499114

    authors: Bürki E

    更新日期:1985-02-01 00:00:00

  • Insertion/Insertion Genotype of Angiotensin I-Converting-Enzyme Gene Predicts Risk of Myocardial Infarction in North East India.

    abstract::Myocardial infarction (MI) is common in India and the disease occurs at a relatively younger age. We wanted to look for association of Angiotensin I-converting enzyme (ACE) gene with MI in North East India. We also wanted to examine possible environmental interaction of ACE gene with established cardiovascular risk fa...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-015-9706-9

    authors: Baruah S,Chaliha MS,Borah PK,Rajkakati R,Borua PK,Mahanta J

    更新日期:2016-04-01 00:00:00

  • Identification of an isogenic semidwarf rice cultivar carrying the Green Revolution sd1 gene by multiplex codominant ASP-PCR and SSR markers.

    abstract::The rice cultivar Hikarishinseiki, a semidwarf isogenotype of Koshihikari carrying the Green Revolution sd1 gene, is increasingly grown in both Japan and the United States. Here, we report DNA diagnosis for Hikarishinseiki targeting its Jukkoku-type sd1 locus, which codes for a defective gibberellin 20-oxidase, with a...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-013-9584-y

    authors: Naito Y,Tomita M

    更新日期:2013-08-01 00:00:00

  • Comparative genetics of the poly-Q tract of ataxin-1 and its binding protein PQBP-1.

    abstract::Human PQBP-1 is known to interact with triplet repeat disease gene products such as ataxin and huntingtin through their poly-glutamine (poly-Q) tracts. The poly-Q tracts show extensive variation in both the number and the configuration of repeats among species. A surface plasmon resonance assay showed clear interactio...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-011-9473-1

    authors: Kurosaki T,Gojobori J,Ueda S

    更新日期:2012-04-01 00:00:00

  • Expression and characterization of a functional single-chain variable fragment (scFv) protein recognizing MCF7 breast cancer cells in E. coli cytoplasm.

    abstract::Single-chain variable fragment (scFv) is one of the most common antibody forms. This report describes the expression of the scFv gene as a soluble protein in Origami DE3 cytoplasm. The purified scFv recognized the epidermal growth factor receptor (EGFRvIII) on the surface of MCF-7 cells. The scFv protein was purified ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-012-9506-4

    authors: Mahgoub IO

    更新日期:2012-08-01 00:00:00

  • Genetic and biochemical characterization of a new chymotrypsin isozyme of the house mouse, CTRA-1.

    abstract::Genetic variation of a codominantly inherited pancreas protease, designated CTRA-1, was discovered in the house mouse by isoelectric focusing in polyacrylamide gels. Phenotype CTRA-1A was found in MOLH/Fre and in the majority of common laboratory mouse strains. Phenotype CTRA-1B was found in PWD/Ph. It was characteriz...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF02426870

    authors: von Deimling OH,Gröning J,Gaa A

    更新日期:1991-12-01 00:00:00

  • Properties of the two common electrophoretic variants of phosphoglucomutase in Drosophila melanogaster.

    abstract::Phosphoglucomutase (PGM) of adult stage in Drosophilia melanogaster has been characterized by gel filtration, ion-exchange chromatography, and isoelectric focusing. The two common electrophoretic variants, PGMA and PGMB, differ with respect to their kinetic and stability parameters. PGMA is more thermostable than PGMB...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00504306

    authors: Fucci L,Gaudio L,Rao R,Spanò A,Carfagna M

    更新日期:1979-10-01 00:00:00

  • Cloning, tissue expression pattern, and chromosome location of a novel human gene BRI3BP.

    abstract::A novel cDNA fragment was identified from a human fetal brain cDNA library by using the coding sequence of human BRI3 gene (Accession No. NM015379) as bait in a yeast two-hybrid screening. Then by 5'-RACE (rapid amplification of cDNA end) and electronic hybridization, we obtained a 1.9 kb contig which consists of a no...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1023/a:1013807518791

    authors: Lin L,Wu Y,Li C,Zhao S

    更新日期:2001-12-01 00:00:00

  • Screening of inbred rat strains for electrophoretic protein polymorphisms.

    abstract::Nineteen inbred strains of the laboratory rat (Rattus norvegicus) were investigated for genetic differences by starch and agarose gel electrophoretic techniques. For six out of 21 loci, interstrain differences were observed: Tf, 6PGD, Es-1, Es-4, Es-5, and Svp. The variants are briefly described and the allelic distri...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484206

    authors: Bender K,Günther E

    更新日期:1978-06-01 00:00:00

  • The selection and genetic analysis of esterase electromorphs in an organophosphate-resistant strain of Culex pipiens from Italy.

    abstract::An Italian organophosphate-resistant strain of Culex pipiens (Lucca) was found to be polymorphic for elevated and nonelevated esterases. Selection for high esterase activity produced a strain homozygous for elevated esterases A2 and B2. Selection for low activity produced a strain homozygous for nonelevated esterases,...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF02426878

    authors: Callaghan A,Hemingway J,Malcolm CA

    更新日期:1993-12-01 00:00:00

  • Alcohol dehydrogenase from Drosophila funebris and Drosophila immigrans: molecular and evolutionary aspects.

    abstract::Alcohol dehydrogenase from Drosophila funebris and D. immigrans is evident at all developmental stages. The highest activity level appears in third-instar larvae and declines to a lower level at all later stages of development. Both species are monomorphic. The enzyme is a dimer consisting of two identical subunits wi...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00499474

    authors: Vilageliu L,González-Duarte R

    更新日期:1984-10-01 00:00:00

  • SNP Discovery by GBS in Olive and the Construction of a High-Density Genetic Linkage Map.

    abstract::Genetic linkage maps are valuable tools for genetic, genomic, and crop breeding studies. Several genetic linkage maps were constructed for the olive (Olea europaea L.) genome, mainly using amplified fragment length polymorphisms (AFLPs) and simple sequence repeat (SSR) markers. However, AFLPs and SSR markers were not ...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-016-9721-5

    authors: İpek A,Yılmaz K,Sıkıcı P,Tangu NA,Öz AT,Bayraktar M,İpek M,Gülen H

    更新日期:2016-06-01 00:00:00

  • Assignment of the gene for adenine phosphoribosyltransferase on the genetic map of mouse chromosome 8.

    abstract::Two electrophoretic variants of adenine phosphoribosyltransferase (APRT) were identified in a population of wild mice (Mus musculus bactrianus). Breeding tests demonstrated that the APRT variants are under the control of two alleles at an autosomal locus designated Aprt. We have examined the linkage relationships betw...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00554357

    authors: Nesterova TB,Borodin PM,Zakian SM,Serov OL

    更新日期:1987-08-01 00:00:00

  • Human beta-glucuronidase: assignment of the structural gene to chromosome 7 using somatic cell hybrids.

    abstract::beta-Glucuronidase (GUS) has become an important enzyme model for the genetic study of molecular disease, enzyme realization, and therapy, and for the biogenesis and function of the lysosome and lysosomal enzymes. The genetics of human beta-glucuronidase was investigated utilizing 188 primary man-mouse and man-chinese...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484467

    authors: Lalley PA,Brown JA,Eddy RL,Haley LL,Byers MG,Goggin AP,Shows TB

    更新日期:1977-04-01 00:00:00

  • SLC11A1 polymorphisms are associated with the risk of chronic obstructive pulmonary disease in a Korean population.

    abstract::The solute carrier family 11 member 1 (SLC11A1) protein plays important roles in macrophage activation and displays pleiotropic effects on various macrophage functions, including the regulation of tumor necrosis factor-alpha (TNF-alpha), interleukin-1beta (IL-1beta), and oxidative burst. Considering the important role...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-008-9166-6

    authors: Kim EJ,Kim KM,Park SH,Kim JS,Lee WK,Cha SI,Kim CH,Kang YM,Han SB,Jung TH,Park JY

    更新日期:2008-08-01 00:00:00

  • Nitrogen regulation of amino acid catabolism in Neurospora crassa.

    abstract::Neurospora crassa can utilize numerous compounds including certain amino acids as a sole nitrogen source. Mutants of the nit-2 locus, a regulatory gene which is postulated to mediate nitrogen catabolite repression, are deficient in the ability to utilize several amino acids as well as other nitrogen sources used by wi...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00484090

    authors: Facklam TJ,Marzluf GA

    更新日期:1978-04-01 00:00:00

  • The Impact of Maternal-Fetal Genetic Conflict Situations on the Pathogenesis of Preeclampsia.

    abstract::Preeclampsia leads to maternal and perinatal morbidity and mortality. The literature in English was reviewed to summarize recent advances in understanding the global gene expression changes in the pathogenesis of preeclampsia. We identified at least eight consistently enriched categories, relating to pregnancy mainten...

    journal_title:Biochemical genetics

    pub_type: 杂志文章,评审

    doi:10.1007/s10528-015-9684-y

    authors: Kobayashi H

    更新日期:2015-10-01 00:00:00

  • Genetic structure and variation of Van cats.

    abstract::To determine the genetic structure and variation of Van cats and some other cats, seven enzyme loci were examined using horizontal starch gel electrophoresis. ME bands were observed for the first time in cats. For the enzyme loci CA ( 1 ), SOD, GPI, and GOT, neither the individual Van cats nor the specimens of other c...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/s10528-011-9426-8

    authors: Altunok V,Yüksek N,Berkman CC,Ağaoğlu ZT,Togan I

    更新日期:2011-08-01 00:00:00

  • The enzymatic deficiency conditioned by the shrunken-1 mutations in maize.

    abstract::Evidence is presented to show that the Sh locus specifies sucrose synthetase in the developing endosperm of maize. The sh/sh/sh endosperm possesses less than 10% sucrose synthetase activity as compared to the normal Sh/sh/sh endosperm. The residual enzyme activity in five independently derived mutant genotypes is attr...

    journal_title:Biochemical genetics

    pub_type: 杂志文章

    doi:10.1007/BF00485135

    authors: Chourey PS,Nelson OE

    更新日期:1976-12-01 00:00:00