• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.108-112
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• 2012

Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-${\alpha}$-D-glucan 4-${\alpha}$-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.

• Korean Journal of Microbiology
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• v.49 no.1
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• pp.1-7
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• 2013

During meiosis, genetic recombinants are formed by homologous recombination accompanying with the programmed double-strand breaks (DSBs) and strand exchanges between homologous chromosomes. The mechanism is generated by recombination intermediates such as single-end invasions (SEIs) and double-Holliday junctions (dHJs), and followed by crossover (CO) or non-crossover (NCO) products. Our study was focused on the analysis of meiotic recombination intermediates (DSBs, SEIs, and dHJs) and final recombination products (CO and NCO). We identified these meiotic recombination intermediates using DNA physical analysis under HIS4LEU2 "hot spot" system in budding yeast, Saccharomyces cerevisiae. For DNA physical analysis, when the hot spot locus is recognized by restriction enzyme from synchronous meiotic cells, the fragmented DNA that are forming recombination intermediates can be detected and quantified through Southern hybridization analysis. Our study suggests that this system can analyze the structural change of recombination intermediates during DSB-SEI transition, double-Holiday junctions and crossover/non-crossover products in meiosis.

• Korean Journal of Poultry Science
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• v.41 no.3
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• pp.217-225
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• 2014

Telomeres are the ends of the eukaryotic chromosomes and consist of a tandem repetitive DNA sequence and shelterin protein complex. The function of telomere is to protect chromosome. Telomere length in somatic cells tends to decrease with organismal age due to the end replication problem. However, several factors at the genetic, epigenetic and environmental level affect telomere length. In this study, we estimated heritability of telomere length and investigated inheritance of telomeres in a chicken. Telomere length of lymphocytes was analyzed by semi-quantitative polymerase chain reaction using telomere primer and quantitative fluorescence in situ hybridization using telomeric DNA probe. In results, heritability of telomere length was estimated 0.9 at birth by offspring-parent regression analysis and was estimated 0.03 and 0.04 at 10 and 30 weeks old, respectively, by parental variance analysis. There was a significant positive correlation in telomere length between father and their offspring (r=0.348), and mother and their offspring (r=0.380). In inheritance patterns of telomere length, the influence of paternal and maternal effect on their offspring was similar. The influence of inherited telomeres on male and female progeny was also roughly alike. These results implicated that imprinting of parental telomere length was regulated by autosomal genes, not sex linked genes. In addition, telomere length of offspring at birth did not differ along with their maternal age. Thus, maternal age does not affects telomere length in their offspring at birth owing to cellular reprogramming at early embryonic stage.

• Microbiology and Biotechnology Letters
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• v.17 no.5
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• pp.436-439
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• 1989

The chromosomal DNA fragments of thermophilic alkalophilic Bacillus sp, K-17, a potent xylanhydrolyzing bacterium, were ligated to a vector plasmid pBR322 and transformed into Escherichia coli HB101. The plasmid pAX278, isolated from a transformant forming yellow color on the LB agar plate containing 1 mM p-nitrophenyl- $\beta$-xylopyranoside, was found to enable the transformants to produce p-xylosidase. The 5.0 kilobase insert of pAX278 had single sites for EcoRI, PstI, XbaI, and PvuII, and 2 sites for BglII. Biotinylated pAX218 was hybridized to 0.9 kb as well as 5.0 kb fragment from Bacillus sp. K-17 DNA on nitrocellulose filter. pGX718 was constructed by inserting the 5.0 kb HindIII fragment of pGX278 at the HindIII site of pGR71, E. coli and B. subtilis shuttle vector. The enzymatic properties of $\beta$-xylosidase from E. coli HB101 carrying recombinant plasmid were the same those of $\beta$-xylosidase from Bacillus sp. K-17.

• Journal of Animal Science and Technology
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• v.53 no.4
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• pp.311-317
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• 2011

The aim of this study was to evaluate the association between economic traits of Korean cattle (Hanwoo) and genetic variation in fatty acid binding protein 5 (FABP5) gene within QTL region of carcass weight and marbling score traits on BTA 14. We sequenced for detection of single nucleotide polymorphism (SNP) with 24 unrelated Hanwoo samples and identified four SNPs (-1141A>G, 949A>G, 969A>G and 1085C>G). Relationship between the genotypes of 583 Hanwoo individuals by PCR-RFLP and economic traits were analyzed by the mixed regression model implemented in the ASReml program. As the result of statistical analysis, SNP1 (-1141A>G) showed significant effect (p<0.003) on marbling score (MS) and SNP2 (949A>G) showed significant effect (p<0.034) on eye muscle area (EMA). Further studies are required to validate the significant SNPs in a bigger population, but the SNPs (-1141A>G and 949A>G) of FABP5 could be a genetic marker to estimate molecular breeding value (MEBV) for carcass traits in Hanwoo.

• Journal of Animal Science and Technology
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• v.50 no.4
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• pp.445-456
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• 2008

Telomeres consist of TTAGGG tandem repeated DNA sequences with specific proteins and locate at chromosome ends. Telomeres are essential for chromosome stability and are related with cell senescence, apoptosis and cancer. Telomerase is a ribonucleoprotein which has a template for the synthesis of telomeric DNA. This study was carried out to analyze the amount of telomeric DNA and telomerase activity in cattle cells. Analysis of the quantity of telomere in lymphocytes was done at different ages, sex and among Korean cattle and Holstein breeds. The telomerase activity was also analyzed in liver, brain, heart, kidney, and testis tissues of fetal calf and of 18 month old cattle. The amount of telomeres in lymphocytes and other tissue cells was analyzed by Quantitative-Fluorescence in situ Hybridization (Q-FISH) technique using a telomeric DNA probe. Telomerase activity was analyzed by Telomeric Repeat Amplification Protocol assay (TRAP). The amount of telomeric DNA on the lymphocytes during the whole life span was decreased along with age. Quantity of telomeres in Korean cattle was significantly higher than that in Holstein breed. The amount of telomeric DNA in males was significantly higher than that in females. Telomerase activity was up-regulated in most bovine tissues during fetal stage, but was down-regulated in most tissues at mature 18 month age except the testis cells. This study indicates that the amount of telomeres and telomerase activity of cells can be used as an age marker or/and a physiological marker of cattle.

• Korean Journal of Microbiology
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• v.41 no.4
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• pp.255-261
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• 2005

A 6.7kb DNA fragment containing the sprT gene encoding Streptomyces griseus trypsin (SGT) was cloned from Streptomyces griseus ATCC 10137, and the complete nucleotide sequence was determined. Nucleotide sequence and deduced amino acid or the EcoRI-HindIII fragment revealed the presence or the six complete ORFs containing the sprT gene and one incomplete ORF, which were named ORF1, SGT, ORF2, ORF3, ORF4, ORF5, and ORF6, respectively. ORF1 has homology with the oxidoreductases from several organisms. ORF2 and ORF3 show similarity with unknown proteins and transcription regulator that belongs to the ArsR family, respectively. ORF4 and ORF5 show homology with the peptidoglycan bound protein with LPXTG motif from Listeria monocytogenes and the membrane protein with transmembrane helix from several organisms, respectively. The last ORF, ORF6, shows homology with the lipoprotein from Streptomyces avermitilis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.26-36
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• 2024

Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

• Korean Journal of Biological Psychiatry
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• v.1 no.1
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• pp.67-78
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• 1994

The author examined the relationship of two markers, D5S39(p105-153Ra), D5S76(p105-599Ha) of chromosome 5 and $D_2$, $D_3$ receptor genes in a Korean schizophrenic pedigree using polymerase chain reaction(PCR). The results were as follows : 1) On D5S39 locus, 5 different alleles(224/226 bp : 4 cases, 218/226 bp : 3 cases, 222/226 bp : 3 cases, 218/230 bp : 1 case, 222/224 bp : 1 case) were produced. 2) On D5S76 locus, 5 different alleles(102/112 bp : 4 cases, 94/112 bp : 3 cases, 108/112 bp 3 cases, 94/94 bp : 1 case, 102/108 bp 1 case) were produced. 3) On $D_2$ receptor gene, 3 different alleles($A_1A_2$ : 8 cases, $A_1A_1$ : 2 cases, $A_2A_2$ : cases) were produced. 4) On $D_3$ receptor gene, 2 different alleles(1/2 : 7 cases, 1/1 : 5 cases) were produced. The author had not find any specific alleles on all four loci in all pedigree nor any specific alleles in the schizophrenic patients. Though the author has not found absolute relationship between the four loci and the onset of schizophrenia, there still remains the possibilities if the more detailed and elaborated pedigree studies are done.

• Applied Biological Chemistry
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• v.38 no.1
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• pp.7-12
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• 1995

The purpose of this study was the development of promoter for the lacZ' gene. Two heterologous promoter I and II of lacZ' gene were isolated from chromosomal DNA Bam HI fragment of yeast. The size of the promoter I was estimated to be 2.5 kb and ${\beta}-galactosidase$ activity was 124.6 U/mg protein, and the size of the promoter II was 4.0 kb and its ${\beta}-galactosidase$ activity was 168.8 U/mg protein, respectively. The stability of the recombinant YEp plasmid in the transformant was from 52.7 to 67.4% at minimal medium. YIp plasmid was constructed from YEp plasmid, and expressed both in E. coli and yeast. The promoter I aid II iso-lated from yeast chromosomal DNA can be used for promoter of plasmid YEp and YIp.