• Asian-Australasian Journal of Animal Sciences
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• 제24권7호
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• pp.905-911
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• 2011

Polymorphisms of BMP15 gene exon 2 and its relationship with prolificacy of goats were detected by PCR-SSCP and DNA sequencing methods in Chinese two local goat breeds. The results showed that the product amplified by the primers displayed polymorphisms. Three genotypes (AA, BB and AB) were detected in Funiu white goats, and their frequency was 0.071, 0.715, 0.214, respectively. Two genotypes (AB and BB) were detected in Taihang black goats, and their frequency was 0.342 and 0.658, respectively. Sequencing revealed that four mutations (456T${\rightarrow}$G, 466C${\rightarrow}$G, 510C${\rightarrow}$T, 511T${\rightarrow}$C) occurred in genotype BB of Funiu white goat, which resulted in amino acid substitution of V155G and S171P. No mutation was detected in Taihang black goat. The Funiu white goat with genotype BB had 0.91 or 0.82 kids, more than those with AB or AA, respectively. The difference of the least squares means for litter size between BB and AB was not significant (p>0.05) in Taihang black goat. It is concluded that the BMP15 gene may be a major gene which affects the prolificacy in Funiu white goats. This study could provide basic molecular data on the reproductive characteristics of local breeds of Henan province in China, and a scientific basis for the conservation and utilization of those two goat breeds.

• Asian Pacific Journal of Cancer Prevention
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• 제15권12호
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• pp.4989-4994
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• 2014

Background: It has been reported that COX-2 expression is associated with MMP-2 expression in thyroid and breast cancers, suggesting that MMPs are linked to COX-2-mediated carcinogenesis. Several polymorphisms within the MMP2 promoter region have been reported in cases with oncogenesis and tumor progression, especially in colorectal carcinogenesis. Materials and Methods: This research evaluated risk of association of the SNPs, including genes for COX-2 (AIG transition at +202) and MMP-2 (Crr transition at-1306), with colorectal cancer in 125 patients and 125 healthy controls. Results and Conclusions: Our data confirmed that MMP2 C-1306 T mutations were significantly more common in colon cancer patients than in our control Saudi population; p=O.0121. On the other hand in our study, there was no significant association between genotype distribution ofthe COX2 polymorphism and colorectal cancer; p=0.847. An elevated frequency ofthe mutated genotype in the control group as compared to the patients subjects indeed suggested that this polymorphism could decrease risk in the Saudi population. Our study confirmed that the polymorphisms that could affect the expressions of MMP-2 and COX-2 the colon cancer patients were significantly higher than that in the COX-2 negative group. The frequency of individuals with MMP2 polymorphisms in colon cancer patients was higher than individuals with combination of COX2 and MMP2 polymorphisms. Our study confirmed that individuals who carried the polymorphisms that could affect the expressions ofCOX2 are more susceptible to colon cancer. MMP2 regulatory polymorphisms could be considered as protective; further studies need to confirm the results with more samples and healthy subjects.

• 대한유전성대사질환학회지
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• 제4권1호
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• pp.5-12
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• 2004

Purpose Phenylketonuria is an inborn error of metabolism, which is inherited as an autosomal recessive trait. PKU is resulting from deficiency of phenylalanine hydroxylase. PAH gene spans about 90 kb on chromosome 12q and comprises 13 exons. In order to define the genetic basis of PKU and the frequencies and distribution of PAH mutations in the Korean population, we analyzed PAH gene in independent 80 patients with PKU. Methods All 13 exons including exon-intron boundaries and 2 kb of 5' upstream region of the PAH gene were analyzed by PCR-direct sequencing methods. Results PAH gene analysis revealed 39 different mutations including 10 novel mutations. The novel mutations consisted of 9 missense mutations (P69S, G103S, N207D, T278S, P281A, L293M, G332V, S391I and A447P) and a novel splice site variant (IVS10-3C>G). R243Q, IVS4-1G>A, and E6-96A>G were the most relevant mutations and they accounted in the whole for 38% of the mutant alleles identified in this study. We also observed that. $BH_4$ responsibility was. associated with genotype of R241C, R53H and R408Q. Conc1ustion Our present study with 80 participants extends the previous results to more comprehensive understanding of PAH allele distribution and frequency in Koreans. Although Korean mutation profile of PAH is similar to those of the nearest oriental populations (Japanese, Chinese, and Taiwanese), several different characteristic features are revealed. The characterization of the genotype-phenotype relationship was also performed. Our data would be very useful information for diagnosis, genetic counseling and planning of dietary and therapeutic strategies in Korean PAH patients.

• BMB Reports
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• 제37권5호
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• pp.552-555
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• 2004

Several studies have demonstrated the importance of angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) polymorphisms in the pathogenesis of hypertension. This study sought to determine the association between the ACE I/D polymorphism and essential hypertension in young Pakistanis. The frequency of the ACE I/D polymorphism was established by a comparative cross-sectional survey of Pakistani patients suffering from essential hypertension and ethnically matched normotensive controls. Samples were collected from tertiary care hospitals in northern Pakistan. Hypertensive individuals were defined as those with a systolic blood pressure > 140 mmHg and/or diastolic blood pressure > 90 mmHg on three separate occasions, or those currently receiving one, or more, anti-hypertensive agents. DNA samples obtained from hypertensive (n=211) and normotensive (n=108) individuals were typed by PCR. The frequency of the ACE I/I genotype was significantly higher in hypertensive patients, aged 20-40 years, than in normotensive controls of the same age group ($\chi^2$ = 4.0, P = 0.041). Whereas no overall significant differences were observed between the I/I, I/D and D/D ACE genotypes (One way ANOVA, F=0.672; P=0.413). The association between the ACE I/I genotype and essential hypertension in individuals aged $\leq$ 40 years suggests that ACE has a role in early onset essential hypertension in Pakistan.

• Genes and Genomics
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• 제40권12호
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• pp.1309-1317
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• 2018

It is well known that dopaminergic genes affect the development of attention deficit hyperactivity disorder (ADHD) in various populations. Many studies have shown that variable number tandem repeats (VNTRs) located within the 3′-untranslated region of DAT1 and in exon 3 of DRD4 are associated with ADHD development; however, these results were inconsistent. Therefore, we investigated the genetic association between two VNTRs and ADHD in Korean children. We determined the VNTRs using PCR. We examined genotype and allele frequency differences between the experimental and control groups, along with the odds ratios, using Chi square and exact tests. We observed a significant association between the children with ADHD and the control group in the 10R/10R genotype of DAT1 VNTRs (p=0.025). In addition, the 11R allele of DAT1 VNTRs showed a higher frequency in the control group than in the ADHD group (p=0.023). Also, the short repeat (without 11R) and long repeat alleles (including 11R) were associated with ADHD (p<0.05). The analysis of DRD4 VNTRs revealed that the 2R allele is associated with ADHD (p=0.025). A significant result was also observed in long and short repeats (p<0.05). Additionally, ADHD subtypes showed that the DRD4 VNTRs are associated with combined and hyperactive-impulsive subtype groups (p<0.05). Therefore, our results suggest that DAT1 VNTRs and DRD4 VNTRs play a role in the genetic etiology of ADHD in Korean children.

• Asian-Australasian Journal of Animal Sciences
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• 제15권3호
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• pp.326-329
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• 2002

A population of exotic Holstein Friesian, Jersey, their crossbreds and the indigenous Murrah breed of buffalo bulls (n=486), used in artificial insemination breeding program were screened for the allelic distribution of the ${\kappa}$-casein and ${\beta}$-lactoglobulin genotypes. The preferred "B" allele frequency was highest in Murrah buffalo bulls followed by Jersey and Holstein Friesian. The increase in this particular allele frequency in the Holstein Friesian crossbred bulls was more when compared to their Jersey counterparts. Hardy-Weinberg's equilibrium was maintained albeit with some deviations, which was higher in crossbreds than in purebreds. The feasibility of using such large-scale molecular diagnostic tools in the field and their significance with regards to the dairy economy is discussed.

• Asian Pacific Journal of Cancer Prevention
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• 제13권1호
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• pp.69-73
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• 2012

Cancer is a complex disease and the genetic susceptibility to it could be an outcome of the inherited difference in the capacity of xenobiotic metabolizing enzymes. Glutathione-S-transferases (GSTs) are phase II metabolizing enzymes whose various genotypes have been associated with increased risk of different types of cancer. Null mutations caused by the deletion of the entire gene result in the absence of the enzymatic activity and increase in the risk of developing cancer including chronic myeloid leukaemia (CML). In the present case-control study we evaluated the effect of null mutations in GSTM1 and GSTT1 genes on the risk of developing CML. The study included 75 CML patients (43 males and 32 females; age (mean ${\pm}$ S.D) $42.3{\pm}13.4$ years) and unrelated non-malignant controls (76 male and 48 females; age (mean ${\pm}$ S.D) $41.5{\pm}12.9$). The distribution of GSTM1 and GSTT1 genotypes in CML patients and controls was assessed by multiplex-PCR method. Logistic regression was used to assess the relationship between GSTM1 and GSTT1 genotypes and risk of CML. Chi-square test was used to evaluate the trend in modulating the risk to CML by one or more potential high risk genotype. Although GSTM1 null genotype frequency was higher in CML patients (41%) than in the controls (35%), it did not reached a statistical significance (OD = 1.32, 95% CI: 0.73-2.40; P value = 0.4295). The frequency of GSTT1 null genotypes was higher in the CML patients (36%) than in the controls (21%) and the difference was found to be statistically significant (OD = 2.12, 95% CI: 1.12-4.02; P value = 0.0308). This suggests that the presence of GSTT1genotype may have protective role against the CML. We found a statistically significant (OD = 3.09, 95% CI: 1.122-8.528; P value = 0.0472) interaction between the GSTM1 and GSTT1 null genotypes and thus individuals carrying null genotypes of both GSTM1 and GSTT1 genes are at elevated risk of CML.

• Journal of Plant Biotechnology
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• 제44권1호
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• pp.49-55
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• 2017

옥수수의 최적 조직 배양 조건을 확립하기 위하여 옥수수 국내 5 계통과 국외 11 계통 총 16 계통을 포트와 포장 재배하여 미성숙 배를 분리하여 배발생 캘러스 유도 및 식물체 재분화율을 조사하였다. MS 배지에 auxin으로 1.5 mg/L Dicamba와 0.5 mg/L 2,4-D 가 첨가된 배지에서 캘러스 형성은 본 실험에 사용된 옥수수 계통 모두에서 높은 빈도로 유도되었으며, 캘러스로부터 식물체 재분화는 5mg/L zeatin이 첨가된 재분화 배지에서 높은 재분화율을 보였다. 또한 포장에서 재배된 옥수수로부터 미성숙 배를 분리하여 사용하였을 때 캘러스 유기 및 식물체 재분화 효율이 높았던 것으로 보아 미성숙 배를 분리하기 위한 옥수수 상태 및 genotype이 중요한 영향을 준다는 것을 알 수 있었다. 본 실험을 통하여 배 발생 캘러스 형성 및 식물체 재분화 효율이 조사된 옥수수 계통들은 생명공학 기술을 활용한 신품종 개발을 위한 형질전환 시스템 개발에 유전자원으로 활용될 수 있는 정보를 제공할 것으로 사료된다.

• Asian-Australasian Journal of Animal Sciences
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• 제23권9호
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• pp.1145-1151
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• 2010

The objective of this work was to analyze the relationship between ovine major histocompatibility complex (MHC) DRB1 gene polymorphism and genetic resistance to hydatidosis in Kazakh sheep. The Ovar (ovine MHC) class II DRB1 second exon was amplified by polymerase chain reaction (PCR) from DNA samples of 702 Kazakh sheep, including 302 sheep with hydatidosis and 400 health controls. PCR products were characterized by the restriction fragment length polymorphism (RFLP) technique using five restriction enzymes, i.e., MvaI, HaeIII, SacI, SacII and Hin1I, yielding 14 alleles and 28 genotypes. Comparing the frequency of genotypes in hydatidosis sheep with the control group, it was found that the genotype frequencies of MvaIbc, Hin1Iab, SacIIab, HaeIIIde, HaeIIIdf and HaeIIIdd in control sheep were significantly (p<0.01) higher than in hydatidosis sheep, indicating that a significant correlation existed between these genotypes and resistance to hydatidosis. Genotype frequencies of MvaIbb, SacIIaa, Hin1Ibb and HaeIIIef in sheep with hydatidosis were extremely significantly (p<0.01) higher than in the control group, and the genotype frequency of HaeIIIab was significantly higher (p<0.05), indicating that a marked correlation existed between these genotypes and susceptibility to hydatidosis. By way of analyzing haplotype with these resistant genotypes, the hydatidosis resistant haplotype MvaIbc-SacIIab-Hin1Iab of Kazakh sheep was screened out, and then verified through artificial hydatid infection in sheep. The results indicated that the infection rate of sheep with the resistant haplotype of hydatidosis was significantly lower (p<0.01) than without this resistant haplotype. It showed that the genic haplotype MvaIbc-SacIIab-Hin1Iab of Ovar-DRB1 exon 2 was the resistant haplotype of hydatidosis in Kazakh sheep.

• Journal of Animal Science and Technology
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• 제44권1호
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• pp.23-30
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• 2002

칡소와 비경흑색 한우의 MC1R 유전자의 유전자형를 조사하고 칡소의 모색 발현과 한우 비경색과의 관계를 규명하기 위하여 MC1R 유전자의 PCR-RFLP 분석을 수행하였다. 소에서 나타나는 6가지 유전자형($E^D/E^D,\;E^D/E^+,\;E^D/e,\;E^+/E^+,\;E^+$/e와 e/e) 중 칡소에서는 단지 2개의 유전자형 $E^+/E^+$와 $E^+$/e 만이 출현하였고, e/e 유전자형을 가지는 개체는 전혀 출현하지 않아 제주재래흑우에서와 같이 흑색 호반모가 발현되기 위해서는 기본적으로 $E^+$ allele이 필요한 것으로 사료되었다. 비경흑색 한우와 비경황색 한우에서는 모두 $E^+$/e 혹은 e/e 유전자형이 출현하였고 $E^+$와 e allele의 빈도는 각각 0.37, 0.63과 0.11, 0.89였다. 비록 $E^+$ allele의 빈도가 비경흑색 한우에서 비경황색 한우에서 보다 높았지만, $E^+$ allele과 비경 흑색과는 완전한 연관성은 없었다. 이러한 결과는 MC1R 유전자 분석이 칡소 뿐만 아니라 한우의 모색 고정에도 유용한 도구로 이용 가능함을 제시하고 있다.