• 생물정신의학
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• 제5권2호
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• pp.215-218
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• 1998

The $5-HT_{2A}$ receptor is of great interest for research into schizophrenia and psychopharmacology in light of the observation that schizophrenic patients has 5-HT cortical-subcortical imbalance and atypical antipsychotic clozpine has $5-HT_{2A}$ antagonists properties. An significant association between schizophrenia and the T102C polymorphism of the gene for $5-HT_{2A}$receptor has been reported. In this study, we investigated an association between schizophrenia and the T102C polymorphism of the gene for $5-HT_{2A}$ receptor in Korean schizophrenic patients. The subjects consisted of 139 schizophrenic patients and 88 normal controls. Genomic DNA was amplified by PCR and digested with MsPI. The uncutt product identified allele 1(nucleotide sequence TCT) ; digested products of 216bp and 156bp identified allele 2(nucleotide sequence TCC). The allele frequencies and the genotypic distribution of $5-HT_{2A}$ receptor gene were not significantly different between schizophrenic patients and normal controls. Since allele frequencies of the T102C polymorphism may differ between individuals of different ethnic backgrounds, it needs to be conducted in an advanced research.

• Asian-Australasian Journal of Animal Sciences
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• 제17권3호
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• pp.301-304
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• 2004

The polymorphism of insulin-like growth factor I (IGF I) in 6 chicken breeds (total n=515) was detected by PCR-Pst IRFLP, and allele A (621 bp) or allele B (364 and 257 bp) were observed. In these chicken breeds, it was found that exotic chicken carried high frequencies of allele B, while Chinese native chicken breeds carried high frequencies of allele A. Meanwhile the role of IGF I was investigated in 133 Ningdu Yellow chicken and 162 Wanzhai Yellow chicken. Five growth traits were recorded for analyzing the association between IGFI gene polymorphism and performance. In both the Ningdu and Wanzhai Yellow breeds, body weight at 4 months was significantly higher with BB genotype than with AA genotype (p<0.05). Furthermore, body weight at 2 months in the Wanzhai Yellow breeds was also higher with BB genotype than with AA genotype (p<0.05). There were no differences among the genotypes for the other traits studied. Based on these results, it is necessary to do more studies on IGFI before making the IGFI locus into the application of maker-assisted selection programms.

• 한국수정란이식학회지
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• 제9권2호
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• pp.197-205
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• 1994

This experiment was carried out to clarify the pedigree identification from blood typing of 301 Hoisteins in National Animal Breeding Institute(N.A.B.I.). Twenty kinds of standard reagent standardized by Insternational Society for Animal Blood Group Research provied from KNC improvement center, N, L, C, F. were used as the reference reagents in this study. The highest frequency of antigenic facfors was obtained from X$_2$in blood typing of 301 Holsteins. The frequency of X$_2$ was 0.714.In A blood system, four kinds of phenogroups were observed. The gene frequencies of Al and Z' phenogroups were equally 0.027.This frequency was greatly lower than those of breeds of Southern European and Zebu cattle. In B blood Systern, nineteen kinds of blood type were appeared. The appearance frequency of Gx blood type was 0.259, whish was higher than the others. In C blood system, thirty kinds of blood type were observed. The appearance frequency of X$_2$ blood type was the highest(0.189). In F blood system, three kinds of alleles were detected. The gene frequency of F allele was higher than that of V(0.105). However, the frequency of F allele(0.327) was greatly lower than that of "- /- " allele. In S blood system, twelve kinds of blood type were appeared and showed sirnilar appearance frequencies except " - / - " allele. From the results of the pedigree identification from 8 sires and 28 progenies of them, the accuracy of pedigree identification was 92.9%.ification was 92.9%.

• 농업과학연구
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• 제37권2호
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• pp.231-238
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• 2010

There is no investigation has yet been conducted for ACOX1 and CSRP3 gene polymorphisms in Korean cattle (Hanwoo), and their associations with carcass and meat quality traits. In this study, SNPs in ACOX1 and CSRP3 genes were identified and their associations with carcass and meat quality traits were investigated in 227 Hanwoo animals. Two SNPs (g.224G> A and g.19491G>A) in ACOX1 gene and one SNP (g.14859C>T) in CSRP3 gene were identified in Hanwoo and sequence analysis indicated that these SNPs were located in the coding regions. The allele frequencies of ACOX1 g.224G>A and g.19491G>A SNPs were 0.57, 0.43, and 0.56 and 0.44, respectively, For CSRP3 g.14859C>T polymorphism, the C and T allele frequencies were 0.64 and 0.36, respectively. The Hanwoo cattle were used to detect PCR-RFLP patterns for estimating the allele frequencies. Single marker association analyses were performed between genotype of each SNP, and carcass and meat quality association traits to evaluate the relationships in Hanwoo. The g.224G>A SNP genotypes of ACOX1 gene, which was significantly associated with meat quantity grade at slaughter (P<0.03) and backfat thickness tended to be greater (P=0.06) in Hanwoo. The previously identified g.14859C>T SNP was used in this study and the obtained genotype and allele frequencies are almost similar with the previous results reported by Bhuiyan et al. (2007). However, no significant association was found between g.19491G>A SNP in the ACOX1 and g.14859C>T SNP genotypes of CSRP3 gene and considered carcass and meat quality traits. In conclusion, the information on the identified SNPs in CSRP3 and ACOX1 genes could be useful for further association study and haplotype analysis for the development of carcass and meat quality traits in Hanwoo.

• Korean Journal of Mathematics
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• 제29권1호
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• pp.75-80
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• 2021

For a locus with two alleles (IA and IB), the frequencies of the alleles are represented by $$p=f(I^A)={\frac{2N_{AA}+N_{AB}}{2N} },\;q=f(I^B)={\frac{2N_{BB}+N_{AB}}{2N}}$$ where NAA, NAB and NBB are the numbers of IA IA, IA IB and IB IB respectively and N is the total number of populations. The frequencies of the genotypes expected are calculated by using p2, 2pq and q2. So in this paper, we consider the method of whether some genotypes is in Hardy-Weinburg equilibrium. Also we calculate the probability generating function for the offspring number of genotype produced by a mating of the ith male and jth female under a diploid model of N population with N1 males and N2 females. Finally, we have conditional joint probability generating function of genotype frequencies.

• 농업과학연구
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• 제40권2호
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• pp.147-153
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• 2013

The aim of study was to investigate genetic diversity for the calpain/calpastatin gene in three Hanwoo breeds [(Brown (n=62), Brindle (n=81) and Jeju Black (n=30)]. Random samples from three breeds of Hanwoo were selected and genotyped for the 7 SNPs of calpain/calpastatin using TaqMan method. Allele frequencies were investigated for CAPN1/CAST gene. Allele frequency of CAST2 SNP was 0.75, 0.59 and 0.22 for Brown, Brindle and Jeju black, respectively. The CAST3 revealed allele frequency of 0.59 and 0.57 in Brown and Jeju Black, while it showed very low allele frequency (0.07) in Brindle. In particular, favorable allele (G allele) for the CAPN1-2 SNP which was shown a strong association with tenderness in Taurine and Indicine cattle revealed 16% and 17% higher allele frequency in Brown Hanwoo (0.82) comparing Brindle (0.66) and Jeju Black Hanwoo (0.65). AMOVA demonstrated that among population variance occupied only 10% of total variance and among individual variance was 0%, while within individual variance was 90% of total variance. This result showed that population effect contributed very small portion of genetic to these three Hanwoo breeds, while within individual variance contributed large portion of genetic diversity within these Hanwoo breeds. In conclusion, three Hanwoo breeds (Brown, Brindle and Jeju black) showed a genetically homogeneous based on the 7 SNPs of CAPN1/CAST gene and it came from same ancestor to form modern Hanwoo breed.

• Asian Pacific Journal of Cancer Prevention
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• 제15권15호
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• pp.6199-6203
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• 2014

Background: The expression of MMP genes has been demonstrated to be associated with tumor invasion, metastasis and survival rate for a variety of cancers. The functional promoter polymorphism MMP-2 C-735T is associated with decreased expression of the MMP-2 gene. The aim of present study was to detect any association between MMP-2 C-735T and susceptibility to breast cancer. Materials and Methods: The MMP-2 C-735T polymorphism was studied in 233 women (98 with breast cancer and 135 healthy controls). All studied women were from Kermanshah and Ilam provinces of Western Iran. The MMP-2 C-735T polymorphism was detected using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The frequencies of MMP-2 CC, CT and TT genotypes in healthy individuals were 59.3, 38.5 and 2.2%, respectively. However, in breast cancer patients, only CC (71.4%) and CT (28.6%) genotypes were observed (p=0.077). In patients the frequency of the MMP-2 C allele was significantly higher (85.7%) compared to that in controls (78.5 %, p=0.048). The presence of C allele of MMP-2 increased the risk of breast cancer by 1.64-fold [OR=1.64 (95%CI 1.01-2.7, p=0.049)]. The frequency of MMP-2 C allele was also higher in patients ${\leq}40$ years (88.9%) than those aged ${\geq}41$ years (67.5%, p=0.07). In addition, the frequency of MMP-2 C allele tended to be higher in patients with a family history of cancer in first-degree relatives (76.6%) compared to that without a family history of cancer (67.3%, p=0.31). Conclusions: Our findings indicate that the C allele of MMP-2 C-735T polymorphism is associated with increased risk of breast cancer. Also, the MMP-2 C allele might increase the risk of young onset breast cancer in our population.

• Journal of Animal Science and Technology
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• 제44권4호
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• pp.391-398
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• 2002

본 연구는 제주마집단(GroupⅠ, 제주도 축산진흥원 사육, 137두; Group II, 농가사육, 30두)과 더러브렛 품종집단(한국마사회 육성마목장, 43두)을 이용하여 SSCP를 통한 Transferrin exon 13, 15, 16의 다형현상 확인과 각 SSCP 유전자형의 염기서열을 분석하기 위하여 수행하였다. 공시재료에서 SSCP에서 관찰된 band에 의한 분석결과 대립인자는 exon 13, 15 및 16에서 각각 2개(A,B), 3개(A,B,C) 및 3개(A,B,C)가 존재하는 것으로 확인되었다. Transferrin exon 13에서 제주마와 더러브렛 집단 모두 A인자가 매우 높게 분포하고 있음이 확인되었다. exon 15에서는 그룹간의 빈도차를 확인 할 수 있었다. exon 15에서 높게 출현되고 있는 유전자형은 GroupⅠ에서 AB (0.445)형, GroupⅡ에서 AA(0.367)형, 더러브렛 품종에서는 AA(0.767) 유전자형이 가장 높은 빈도로 출현되어 제주마 집단간 또는 품종간에 빈도의 차이를 관찰할 수 있었다. exon 16에서는 GroupⅠ은 A, B, C 인자, GroupⅡ에서는 A 및 B 2종류의 인자형이 확인되었고 더러브렛 품종에서는 A인자형만 검출되었다. exon 16에서도 그룹간에 유전인자의 빈도차를 확인 할 수 있었다. 또한 exon 13, 15 및 16의 조합으로 형성된 개체의 유전자형은 전체 13종류가 출현되었고 이 조합도 그룹간 차이를 확인 할 수 있었다. SSCP 유전자형에 따른 각 인자들에 대한 염기서열을 분석한 결과 exon 13과 16에서 각 1개의 새로운 SNP가 발견되었다. 본 연구결과 제주마 transferrin exon 13, 15, 16은 더러브렛 품종에서와 같이 높은 대립인자의 다형성을 보였으며, 각 Group 간 빈도차를 확인 할 수 있었다.

• Korean Journal of Acupuncture
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• 제21권1호
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• pp.41-50
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• 2004

Objectives : This study was designed to investigate the differences of effects in smoking cessation after acupuncture treatment and we hypothesized that the discrepancies might be caused by individual genetic differences. Methods : Acupuncture treatment was given to the subjects three times a week for the 231 healthy male Korean smokers without personal or familial history of psychiatric or neurological illness. We evaluated for differentiate responder and non-responder who showed more than 50% decrease in the cigarette consumption or the desire for smoking were regarded as responder, and less than 25% decrease in the cigarette consumption or the desire for smoking were regarded as non-responder, respectively. Allele and genotype frequencies of the Taq1 A polymorphism of dopamine D2 receptor (DRD2) gene were compared in 231male smokers. Chai-square analyses were performed to test for an interactive effect between the DRD2 Taq1 A allele. Results : The allele frequencies and genotype distributions of DRD2 gene among the smokers (n = 231) showed significant the differences in their genotype distributions. The responder and non-responder showed the difference in genotype distribution with a prevalence of A1 allele. A slightly positive association of DRD2 Taq1 A1 genotypes with smoking was observed. Conclusions : This experiment results indicate that the present of DRD2 allele genotype showing significant difference in the genotype distributions between responders and non-responders could be explained by the difference in the genetic effect of DRD2 A1 allele.

• 생물정신의학
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• 제13권3호
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• pp.170-177
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• 2006

Objectives : Disturbances of serotonergic system might be related to the possible mechanism of social phobia. This study was to investigate the association of serotonin transporter gene and social phobia. Methods : Sixty nine patients with social phobia(51 male(73.9%), mean age $35.17{\pm}11.89$ years) and seventy four normal controls(54 male(73.0%), mean age $33.46{\pm}9.63$ years) were tested for serotonin transporter gene-linked polymorphic region(5-HTTLPR) polymorphism. Additionally, patients were grouped into 46 generalized(GEN) and 23 nongeneralized(NGEN) subgroups and 5-HTTLPR polymorphism was compared with that of normal controls. The genotypes and allele frequencies of the 5-HTTLPR polymorphism between social phobia and the control group were compared. Genomic DNA was extracted from their blood and 5-HTTLPR polymorphisms were determined by using polymerase chain reaction. Results : Significant association was observed between the S(ss) genotype and social phobia, by functional classification(p=.010). In allele frequency analysis, a significant association was also observed between the short allele and social phobia(p=.030). A significant associations between S genotype and each subgroup were observed(GEN p=.045 ; NGEN p=.033), but there were no differences in allele frequency. And, no differences in genotype and allele distribution between two subgroups were found. Conclusion : The results in our Korean sample suggest that S genotype of 5-HTTLPR may be associated with social phobia and s allele may be an important genetic factor that activates social phobic symptoms. But, further studies including large number of samples are necessary to elucidate these present findings.