• 한국작물학회지
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• 제47권6호
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• pp.465-470
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• 2002

맥주보리 교배모본(Crossing block) 380품종 및 계통을 공시재료로 esterase 동위효소 가운데 4개의 loci에 대한 allele의 종류, 발견빈도, 유전자형 등을 분석한 결과는 다음과 같다. 1. 조사한 380 계통중 Est1 locus에서는Pr, Al, Ca, Af등 4개의 alleles이 있는 것으로 관찰되었으며 그 중 Pr allele이 약 70%, Ca allele이 28.4%로 대부분을 차지하였고, Ca 및 기타 Al allele은 2% 미만이었다. 2. Est2 locus에서는 Dr, Fr, Sp, Un, null 등 5개의 allele이 있는 것으로 나타났고 allele이 84.5%로 가장 높은 비율을 차지하였고, null allele가 10%이었다. 3. Est4 locus에서는 Nz, Su, At, null 등 4개의 allele이 발견되었는데 Su allele가 약 84%로 대부분을 차지하였으며, Nz, allele가 10.5%, At allele가 4.2%의 빈도를 보였다. 4. Est5 locus에서는 Mi, Pi, Te, od(null) 등 4개의 allele이 발견되었으며 Pi allele이 61.0% Mi allele이 34.2%이었다. 5. 4개의 Esterase loci에서 나타나는 pattern을 기준으로 한 유전자형은 25가지의 유형으로 분류할 수 있었으며, G1형(Pr-Fr-Su-Mi)이 28.1%, G2형(Pr-Fr-Su-Pi)이 39.5%로 대부분을 차지하였고 다음으로 12형(Ca-Fr-Su-Pi)이 약 8.1%의 비율로 나타났다. 기타의 유전자형들은 그 발견 빈도가 극히 낮은 편이었다.

• 미생물학회지
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• 제44권2호
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• pp.98-104
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• 2008

mRNA의 핵에서 세포질로의 이동(mRNA export)에 관여하는 것으로 여겨지는 분열효모 Schizosaccharomyces pombe의 rsm1 유전자의 역할을 알아보기 위해 $kan^{r}$ 유전자를 이용하여 결실돌연변이주(deletion mutant)를 제조하였다. rsm1 유전자는 생장에 필수 유전자는 아니지만, rsm1 결실돌연변이주는 야생형에 비해 생장이 조금 늦고 mRNA export도 약간의 결함을 보였다. rsm1 유전자와 mRNA export의 중요 유전자와의 연관관계를 알아보기 위해, 이중돌연변이주(double mutants)를 제작하여 생장결함 정도와 mRNA export 결함 정도를 조사하였다. 조사한 유전자들 중에서 mex67 또는 npp106 돌연변이 유전자는 rsm1 결실돌연변이 유전자와 함께 존재하면 생장과mRNA export가 더욱 악화되었다. 반면, thp1 돌연변이 유전자는 rsm1 결실돌연변이 유전자와 함께 존재하면 오히려 생장과 mRNA export 정도를 야생형과 유사한 정도로 호전시켰다. 이와 같은 결과들은 rsm1 유전자가 mRNA의 핵에서 세포질로의 이동에 중요한 역할을 담당하고 있음을 시사한다.

• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6263-6267
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• 2012

Background: Glutathione-S-transferase (GST) is an important phase II xenobiotic compound metabolizing enzyme family, involved in tolerance to a particular drug or susceptibility to a diseasec. This study focused the GSTM1 and T1 null allele frequency in the Gujarat population with a comparison across other Inter- and Intra-Indian ethnic groups to predict variation in the possible susceptible status. Methods: DNA was isolated by a salting out method and GSTM1 and T1 homozygous null genotypes were detected by multiplex polymerase chain reaction in 504 unrelated individuals. The genotype distribution of null alleles was compared with Indian and non Indian ethnics reported earlier in the literature using Fisher's test. Results: The frequencies of the homozygous null genotypes of GSTM1 and GSTT1 were 20% (95%CI 16.7-23.9) and 35.5% (95%CI 31.4-39.9) respectively. GSTM1 null frequency did not deviate from most other Indian ethnic groups but differed from the majority of those of non Indian ethnicity studied. The frequency of homozygous null type of GSTT1 was significantly higher and deviated from all Indian groups and a few of non Indian ethnicity. Conclusions: Gujarat ethnicity, possibly the most susceptible for GSTT1 dependent drug disposition and diseases regarding effects of pollution. Further, the results have implications for GSTT1 dependent drugs used for treatment, a serious problem which needs to be solved by physicians and clinical researchers.

• 대한의생명과학회지
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• 제17권2호
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• pp.151-155
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• 2011

Short tandem repeats (STRs) loci are the genetic markers used for forensic human identity test. With multiplex polymerase chain reaction (PCR) assays, STRs are examined and measured PCR product length relative to sequenced allelic ladders. In the repeat region and the flanking region of the commonly-used STR may have DNA sequence variation. A mismatch due to sequence variation in the DNA template may cause allele drop-out (i.e., a "null" or "silent" allele) when it falls within PCR primer binding sites. The STR markers were co-amplified in a single reaction by using commercial PowerPlex$^{(R)}$ 16 system and AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kits. Separation of the PCR products and fluorescence detection were performed by ABI PRISM$^{(R)}$ 3100 Genetic Analyzer with capillary electrophoresis. The GeneMapper$^{TM}$ ID software were used for size calling and analysis of STR profiles. Here, this study described a forensic human identity test in which allelic drop-out occurred in the STR system D18S51. During the course of human identity test, two samples with a homozygous (16, 16 and 21, 21) genotype at D18S51 locus were discovered using the PowerPlex$^{(R)}$ 16 system. The loss of alleles was confirmed when the samples were amplified using AmpFlSTR$^{(R)}$ Identifiler$^{(R)}$ PCR amplification kit and resulted in a heterozygous (16, 20 and 20, 21) genotype at this locus each other. This discrepancy results suggest that appropriate measures should be taken for database comparisons and that allele should be further investigated by sequence analysis and be reported to the forensic community.

• Asian Pacific Journal of Cancer Prevention
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• 제14권6호
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• pp.3925-3929
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• 2013

We aimed to investigate bladder cancer risk with reference to polymorphic variants of cytochrome p450 (CYP) 1A1, CYP1B1, glutathione S-transferase (GST) M1, and GSTT1 genes in a case control study. Polymorphisms were examined in 114 bladder cancer patients and 114 age and sex-matched cancer-free subjects. Genotypes were determined using allele specific PCR for CYP1A1 and CYP1B1 genes, and by multiplex PCR and melting curve analysis for GSTM1 and GSTT1 genes. Our results revealed a statistically significant increased bladder cancer risk for GSTT1 null genotype carriers with an odds ratio of 3.06 (95% confidence interval=1.39-6.74, p=0.006). Differences of CYP1A1, CYP1B1 and GSTM1 genotype frequencies were not statistically significant between patients and controls. However, the specific combination of GSTM1 null, GSTT1 null, and CYP1B1 codon 119 risk allele carriers and specific combination of GSTM1 present, GSTT1 null, and CYP1B1 432 risk allele carriers exhibited increased cancer risk in the combined analysis. We did not observe any association between different genotype groups and prognostic tumor characteristics of bladder cancer. Our results indicate that inherited absence of GSTT1 gene may be associated with bladder cancer susceptibility, and specific combinations of GSTM1, GSTT1 and CYP1B1 gene polymorphisms may modify bladder cancer risk in the Turkish population, without any association being observed for CYP1A1 gene polymorphism and bladder cancer risk.

• Genomics & Informatics
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• 제5권2호
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• pp.61-67
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• 2007

The allele frequencies of markers as well as linkage disequilibrium (LD) can be changed in cases due to the LD between markers and the disease allele, exhibiting spurious associations of markers. To identify the true association, classical statistical tests for dealing with confounders have been applied to draw a conclusion as to whether the association of variants comes from LD with the known disease allele. However, a more direct test considering LD using estimated haplotype frequencies may be more efficient. The null hypothesis is that the different allele frequencies of a variant between cases and controls come solely from the increased disease allele frequency and the LD relationship with the disease allele. The haplotype frequencies of controls are estimated using the expectation maximization (EM) algorithm from the genotype data. The estimated frequencies are applied to calculate the expected haplotype frequencies in cases corresponding to the increase or decrease of the causative or protective alleles. The suggested method was applied to previously published data, and several APOE variants showed association with Alzheimer's disease independent from the APOE ${\varepsilon}4$ variant, rs429358, regardless of LD showing significant simulated p-values. The test results support the possibility that there may be more than one common disease variant in a locus.

• Asian Pacific Journal of Cancer Prevention
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• 제14권8호
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• pp.4739-4742
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• 2013

Carboplatin, a second generation platinum drug, is widely used to treat different types of cancers. However, myelosuppression remains a major consideration in its use. Genetic polymorphisms of enzymes involved in drug disposition can influence therapeutic outcome. The homozygous null deletion of phase II metabolic gene GSTT1 that abolishes its xenobiotic- detoxifying ability may be associated with carboplatin toxicity. Further, since carboplatin generates oxidative stress, polymorphisms of oxidative stress genes that regulate the cellular level of free radicals may have important roles in generating drug- related adverse effects. We here investigated the null polymorphism of GSTT1, and the -463G>A promoter polymorphism of oxidative stress gene myeloperoxidase (MPO) for carboplatin toxicity in a population of northern India. Cancer patients who were treated with carboplatin, and developed toxicity was considered. The study group comprised of 10 patients who developed therapy- related adverse effects. Peripheral blood was taken from patients for DNA isolation. GSTT1 null genotype was determined by conducting duplex PCR and MPO-463 G>A was determined by PCR followed by RFLP. Hematologic toxicity was experienced by 5 patients, 2 of them had grade 3 and 4 toxicity and 3 others had grade 2 toxicity. They also had gastrointestinal (GI) toxicity. Remaining 5 individuals developed GI toxicity but no hematological toxicity. While GG homozygous of MPO was present in majority of patients having hematologic toxicity (in 4 out of 5 individuals), one A allele (AG genotype) was present in 4 patients who did not have any hematological toxicity. Thus variant A allele of MPO -463G>A may be related to lower hematological toxicity. These preliminary data, however, are required to be confirmed in larger studies along with other relevant polymorphisms.

• 한국식물학회:학술대회논문집
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• 한국식물학회 1987년도 식물생명공학 심포지움 논문집 Proceedings of Symposia on Plant Biotechnology
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• pp.349-356
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• 1987

Insertions of transposable elements in or near a structural gene give rise to null phenotypes, reduced levels of gene expression, or alteration on the tissue-specific pattern of gene expression. Null phenotypes often result from insertions in exons. Reduced levels of gene expression results from insertions in various regions such as promoter region, 5' non-translated region, exon and intron. The maize allele of Adh1-3F1124 is an example of alteration in the tissue-specific patetern of gene expression. Adh1-3F1124 contains a Mu element inserted 31 bp 5' to the transcriptional start site of the wild-type Adh1 activity in seeds and anaerobically-treated seedlings but normal levels in the pollen. Upon the insertion of a transposable element a certain number of host DNA sequences at the insertion site is duplcated. When transposable elements excise, all element sequences are deleted. However, the duplicated host sequences may be left intact or deleted to various extents. This results in null phenotypes, restoration of original levels of gene expression, or altered levels of gene expression. On the basis of effects of transposable-element insertions or excisions on gene expression, the usefulness of transposable ellements for studies on gene expression is discussed.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.5037-5042
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• 2012

Background: Tobacco contains agents which generate various potent DNA adducts that can cause gene mutations. Production of DNA adducts may be neutralized by glutathione S transferase (GST) along with other phase I and phase II enzyme systems. The existence of null type of GST among the population increases the susceptibility to various disorders and diseases. The present study focuses on the impact of high tobacco usage and possible null type mutation in GST loci. Methods: Genotypes of GST were detected by multiplex polymerase chain reaction in unrelated 504 volunteers of high tobacco using natives of Gujarat. Allelic frequencies were calculated using Statistical Package for Social Studies-16 software. Hardy Weinberg Equilibrium (HWE) was calculated using Chi square test. Two sided Fisher's significance test was used to compare allelic frequencies of different populations. Results: The frequency of homozygous null genotype of GSTM1 and GSTT1 were 20% (95% CI 16.7-23.9) and 35.5% (95% CI 31.4-39.9) respectively. The GSTM1 and GSTT1 null allele frequency distribution in the Gujarat population was significantly deviating from HWE. GSTT1 null frequency of Gujaratians was significantly higher and different to all reported low tobacco using Indian ethnics, while GSTM1 was not differing significantly. Conclusion: Tobacco usage significantly influences the rate of mutation and frequency of GSTT1 and M1 null types among the habituates. The rate of mutation in GSTT1 loci was an undeviating response to the dose of tobacco usage among the population. This mutational impact of tobacco on GSTT1 postulates the possible gene - environment interaction and selection of null genotype among the subjects to prone them under susceptible status for various cancers and even worst to cure the population with GSTT1 dependent drugs.

• 생명과학회지
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• 제16권7호
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• pp.1109-1111
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• 2006

The present study was carried out to investigate the blood markers of the Korean native horse. A total number of 158 horses were tested using microhaemagglutination with 11D system reagents (Da, Db, Dc, Dd, De, Df, Dg, Dh, Dk, Dm and Dn). Of the 158 horses, 3 horses showed an unusual D system phenogroups; these phenogroups may be silent (null) alleles, De or Dk and Dc, respectively. Dacdfgm, Dacdfgmn, and Ddegmn phenogroups were recognized. These results present basic information for detecting the genetic markers among the Korean native and alien horses.