• 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.

• 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.

• 한국동물학회지
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• 제36권2호
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• pp.193-199
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• 1993

The protein po;vmorphisms and allele frequencies of wild house rat (Rattus norvegicus) population in Korea were studied. The studied proteins and enzymes were transferrin (Tf), albumin (Alb), fumarate hvdratase (FH), phospho!loucomutase (PGM), lactate dehvdrogenase A (LDHA) and lactate dehvdrogenase B (LDHB). There were two transferrin alleles, TP and Tf in Korean wild house rat popu1ation. The Tf2 allele was found for the first time by a starch gel, and confirmed by a polvacrvlamide gel isoelectric focusing and immunoblotting. The allele frequencies of TP and TF were 0.985 and 0.015, respectively. Two common alleles fumarate hydratase, FHa and FHb were found, and frequencies of FHa and FPP were calculated to be 0.714 and 0.286, respectively. The kequenw of FH in Korean wild house rat was higher than that of Finnish and Czechoslovakian population. Alb, PGM, LDHA and LDHB are only one phenotype each and all. Therefore, these proteins seem to be monomorphic in Korean wild house rat population.

• BMB Reports
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• 제43권7호
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• pp.499-505
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• 2010

The present study aimed to investigate whether the polymorphisms in the TSLPR gene are associated with atopic and asthmatic disease in the Korean population. We identified eleven single nucleotide polymorphisms (SNPs) and two variation sites in the TSLPR gene, including the promoter region. The genotype and allele frequencies of g.33G>C of the TSLPR gene in asthma patients were significantly different from the respective frequencies of the control group (P = 0.006 and 0.003, respectively). Our additional analysis showed that the genotype and allele frequencies of the g.33G>C and g.19646A>G of the TSLPR gene were significantly associated in the atopic asthma patients rather than in the non-atopic asthma patients (genotype frequencies; P = 0.0001 and 0.0003 respectively, allele frequencies; P = 0.0005 and 0.0001 in that order). Our results suggest that the SNPs of the TSLPR gene could be associated with the susceptibility to atopic asthma in the Korean population.

• Asian Pacific Journal of Cancer Prevention
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• 제15권17호
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• pp.7377-7381
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• 2014

CYP2E1 PstI polymorphism G-1259C (rs3813867) genotype distributions vary significantly among different populations and are associated with both diseases, like cancer, and adverse drug effects. To date, there have been limited genotype distributions and allele frequencies of this polymorphism reported in the three major indigenous ethnic groups (KadazanDusun, Bajau, and Rungus) in Sabah, also known as North Borneo. The aim of this study was to investigate the genotype distributions and allele frequencies of the CYP2E1 PstI polymorphism G-1259C in these three major indigenous peoples in Sabah. A total of 640 healthy individuals from the three dominant indigenous groups were recruited for this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at G-1259C polymorphic site of CYP2E1 gene was performed using the Pst I restriction enzyme. Fragments were analyzed using agarose gel electrophoresis and confirmed by direct sequencing. Overall, the allele frequencies were 90.3% for c1 allele and 9.7% for c2 allele. The genotype frequencies for c1/c1, c1/c2 and c2/c2 were observed as 80.9%, 18.8%, and 0.3%, respectively. A highly statistical significant difference (p<0.001) was observed in the genotype distributions between indigenous groups in Sabah with all Asian and non-Asian populations. However, among these three indigenous groups, there was no statistical significant difference (p>0.001) in their genotype distributions. The three major indigenous ethnic groups in Sabah show unique genotype distributions when compared with other populations. This finding indicates the importance of establishing the genotype distributions of CYP2E1 PstI polymorphism in the indigenous populations.

• Molecules and Cells
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• 제44권9호
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• pp.680-687
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• 2021

Coronavirus disease, COVID-19 (coronavirus disease 2019), caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), has a higher case fatality rate in European countries than in others, especially East Asian ones. One potential explanation for this regional difference is the diversity of the viral infection efficiency. Here, we analyzed the allele frequencies of a nonsynonymous variant rs12329760 (V197M) in the TMPRSS2 gene, a key enzyme essential for viral infection and found a significant association between the COVID-19 case fatality rate and the V197M allele frequencies, using over 200,000 present-day and ancient genomic samples. East Asian countries have higher V197M allele frequencies than other regions, including European countries which correlates to their lower case fatality rates. Structural and energy calculation analysis of the V197M amino acid change showed that it destabilizes the TMPRSS2 protein, possibly negatively affecting its ACE2 and viral spike protein processing.

• Asian-Australasian Journal of Animal Sciences
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• 제25권1호
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• pp.33-36
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• 2012

A total of 423 blood samples were collected (during 2009 and 2010) from all the ram holdings at three major Jordanian governmental Awassi breeding stations (Al-Khanasry, Al- Mushairfa and Al-Fjaje) and two private flocks. All blood samples were screened for the presence of mutations at the CNGA3 gene (responsible for day blindness in Awassi sheep) using RFLP-PCR. The day blindness mutation was detected in all studied flocks. The overall allele and genotype frequencies of all studied flocks of the day blindness mutation were 0.088 and 17.49%, respectively. The genotype and allele frequencies were higher in station flocks than the farmer flocks (0.121, 24.15 and 0.012, 2.32, respectively). Al-Mushairfa and Al-Khanasry stations have the highest genotype and allele frequencies for the day blindness mutation that were 27.77, 30.00% and 0.14, 0.171, respectively. The investigated farmer flocks have low percentages (0.03, 5.88% at Al-Shoubak and 0.005 and 1.05%, at Al-Karak, respectively for genotype and allele frequencies) compared with the breeding stations. Ram culling strategy was applied throughout the genotyping period in order to gradually eradicate this newly identified day blindness mutation from Jordanian Breeding station, since they annually distribute a high percentage of improved rams to farmer's flocks.

• 대한임상검사과학회지
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• 제38권3호
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• pp.179-183
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• 2006

Alzheimer's disease (AD) is characterised neuropathologically by the accumulation of neuritic plaques and neurofibrillary tangles as well as by cerebrovascular amyloid deposition and neuronal cell loss. Current advances have shown the apolipoproteinE-epsilon 4 (ApoE4) allele to be highly associated with late-onset familial and sporadic Alzheimer's disease (AD) in Western populations. The association of ApoE allele frequencies and dementia remains unknown in populations from many countries. We recently initiated a project to examine ApoE frequencies in non-demented healthy Koreans. Genomic DNA in hair root from a thousand persons was collected and ApoE gene type was investigated with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism. A group of a thousand non-demented Koreans over the age of 40 years were found to be positive in 15.7% of the cases for ApoE4. AD and ApoE4 were closely related. ApoE epsilon 4 was a dangerous factor of AD and ApoE 4 allele made a contribution to the heterogenicity of AD.

• 생명과학회지
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• 제13권4호
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• pp.412-415
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• 2003

제주마의 Es유전적 다형은 F, G, H, I, M, $I^o$ 의 6개의 대립유전자가 분포되어 있으며, 대립유전자 II가 22두(30.1%), FI 16두(21.9%), FF 9두(12.3%), GI 9두(12.4%) 순으로 높은 분포를 보였다. 또한 특이적인 silent 대립유전자로 추정되는 $I^oI^o$가 1두(1.4%)에서 관찰되었다. Es의 유전자 빈도는 대립유전자 I가 47.9%로 가장 높은 빈도를 보였으며 그 다음은 F (27.4%), G (19.2%), H (2.7%), M과 $I^o$가 각각 1.4% 순으로 분포하였다.

• 생명과학회지
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• 제23권7호
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• pp.919-925
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• 2013

사람의 TSLPR는 염증 유발 및 알러지 반응에 중요한 역할을 한다. 우리는 TSLPR 유전자에서 11개의 유전자 다형성과 2개의 유전적 변이 부위를 발굴하였고, 이들 TSLPR 유전자 다형성이 아토피 천식의 민감성과 연관성이 있음을 확인 하였다. 이에 우리는 TSLPR 유전자 다형성과 류마티스 관절염과의 연관성에 대해서도 알아 보고자 하였다. 457명의 류마티스 관절염 환자군과 570명의 정상 대조군으로 TSLPR 유전자 다형성의 genotype과 allele frequencies를 비교 분석 해본 결과 두 그룹 간에 유의성이 없었고, 류마티스 관절염 여성 그룹에서의 비교 분석에서도 두 그룹 간에 유의성이 없었다. 또한, 류마티스 관절염 환자에서 TSLPR 유전자 다형성이 RF나 CCP levels에 영향을 미치지 않는 것으로 분석 되었다. 따라서, TSLPR 유전자 다형성이 한국인에서의 류마티스 관절염에 대한 민감성과 연관성이 없는 것으로 생각된다.