• 제목/요약/키워드: allele frequency

검색결과 396건 처리시간 0.023초

Genotype Profiles for the Quantitative Trait Related to Milk Composition in Bulls Used for Artificial Insemination in India

  • Mukhopadhyaya, P.N.;Mehta, H.H.
    • 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.

Angiotensin-Converting Enzyme Gene Polymorphism is not Associated with Myocardial Infarction in Koreans

  • Chai, Seok;Sohn, Dong-Ryul
    • The Korean Journal of Physiology and Pharmacology
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    • 제2권5호
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    • pp.645-650
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    • 1998
  • To assess the relationship between angiotensin-converting enzyme (ACE) gene polymorphism and myocardial infarction in Koreans, we recruited 112 healthy, unrelated subjects (mean age 53.4 years) and 104 myocardial infarction survivors (mean age 54.2 years) of both sexes. An insertion/deletion (I/D) polymorphism of the ACE gene was typed by polymerase chain reaction. The I allelic frequency of ACE gene in Korean subjects was irrelavant to myocardial infarction (patients, 65 control subjects 66%), as was true with the D allele. When compared with other populations, the frequency of D allele in Koreans (0.34) was lower than that in Caucasians, and was close to that of other Oriental populations. The data suggest that the ACE gene polymorphism is not an independent genetic risk factor for myocardial infarction in Koreans.

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육우의 혈액단백질 및 효소의 유전적 변이체 (Genetic Variants of the Blood Proteins and Enzymes in Beef Cattle)

  • 상병찬;류승희;상병돈
    • 농업과학연구
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    • 제22권1호
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    • pp.69-81
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    • 1995
  • 본 연구는 축산기술연구소 대관령지원에서 사육하고 있는 Hereford, Angus 및 Charolais 육우품종에서 혈액을 채취하여 이들의 혈액내에 존재하는 transferrin(Tf), post-transferrin-2(pTf-2), albumin(Alb), post-albumin(pAlb), ceruloplasrmin(Cp), amylase-I(Am-I) 및 hemoglobin(Hb)의 혈액단백질 및 효소좌위의 유전적다형을 분석하여 이들 집단의 유전적 변이체를 조사하고자 PAGE(polyacrylamide gel electrophoresis)와 STAGE(starch gel electrophoresis)방법으로 분석하였던바 그 결과는 다음과 같다. 1. Tf좌위는 A, $D_1$, $D_2$ 및 E와 pTf-2좌위는 F와 S의 공우성 대립유전자의 지배를 받는 것으로 생각되며, 유전자형의 빈도에 있어서는 Hereford 종에서는 Tf $D_1D_2$와 pTf-2 SS 형이 각각 25 및 90%이었고, Angus종에서는 Tf $AD_1$와 pTf-2 FF형이 각각 25와 100%이었으며, Sharolais종에서는 Tf $D_1D_1$와 pTf-2 FS형이 각각 50%로 높은 빈도를 보였다. 유전자빈도에 있어서는 Hereford종에서 Tf E와 pTf-2 S 빈도가 각각 0.400과 0.900이었고, Sharolais종에서는 Tf $D_1$과 pTf-2 S가 각각 0.678 및 0.607로 높은 빈도를 보였다. 2. Alb좌위는 A, 그리고 pAlb좌위는 F와 S의 대립유전자의 지배를 받는것으로 사료되며, 유전자형 빈도에 있어서는 Hereford, Angus와 Sharolais종에서 각각 pAlb SS, FF 및 SS가 각각 70, 90 및 57.15%로 높은 빈도를 나타냈으며, pAlb의 유전자 빈도에 있어서는 Hereford와 Sharolais종에서 pAlb S가 각각 0.825와 0.750이었고, Angus종에서는 pAlb F가 0.900으로 높은 빈도를 보였다. 3. Cp 좌위는 F 및 S와 Am-I 좌위는 B와 C의 대립유전자의 지배를 받는 것으로 생각되며, 유전자형 빈도에 있어서는 Herford종에서는 Cp FF와 Am-I BB형의 빈도가 각각 100 및 85%이었고, Angus종에서는 Cp FF와 Am-I CC형이 각각 45 및 85%이였으며, Sharolais종에서는 Cp FF와 Am-I BC형이 각각 50 및 64.29%로 높은 빈도를 보였다. 유전자 빈도에서 있어서는 Herford, Angus와 Sharolais 종에서 Cp F가 각각 0.800, .875 및 0.680이었고 Hereford종에서 Am-I A가 0.800이었으며, Angus와 Sharolais종에서 Am-I C가 각각 0.875 및 0.680이었다. 4. Hb좌위 는 Hereford종과 Angus종에서는 Hb A, Sharol ais종에서는 Hb A와 B의 대립유선자가 검출 되었으며, Sharolais종에서 유전자형 빈도는 Hb AA 및 AB가 각각 57.14 및 42.88%이었고, 유전자빈도에 있아서는 Hb A와 B가 각각 0.785 및 0.215이었다.

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Association of Polymorphism Harbored by Tumor Necrosis Factor Alpha Gene and Sex of Calf with Lactation Performance in Cattle

  • Yudin, N.S.;Aitnazarov, R.B.;Voevoda, M.I.;Gerlinskaya, L.A.;Moshkin, M.P.
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권10호
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    • pp.1379-1387
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    • 2013
  • In a majority of mammals, male infants have heavier body mass and grow faster than female infants. Accordingly, male offspring nursing requires a much greater maternal energy contribution to lactation. It is possible that the maternal-fetal immunoendocrine dialog plays an important role in female preparation for lactation during pregnancy. Immune system genes are an integral part of gene regulatory networks in lactation and tumor necrosis factor alpha ($TNF{\alpha}$) is a proinflammatory cytokine that also plays an important role in normal mammary gland development. The aim of this study was to evaluate the influence of the sex of calf and/or the -824A/G polymorphism in the promoter region of $TNF{\alpha}$ gene on milk performance traits in Black Pied cattle over the course of lactation. We also studied the allele frequency differences of -824A/G variants across several cattle breeds, which were bred in different climatic conditions. The G allele frequency decreased gradually over the course of lactation events in the Black Pied dairy cattle because of a higher culling rate of cows with the G/G genotype (p<0.001). In contrast to the genotypes A/A and A/G, cows with G/G genotype showed significant variability of milk and milk fat yield subject to sex of delivered calf. Milk yield and milk fat yield were significantly higher in the case of birth of a bull calf than with a heifer calf (p<0.03). The G allele frequency varies from 48% to 58% in Grey Ukrainian and Black Pied cattle to 77% in aboriginal Yakut cattle. Our results suggest that the $TNF{\alpha}$-824A/G gene polymorphism may have an influence on the reproductive efforts of cows over the course of lactation events depending on the sex of progeny. Allocation of resources according to sex of the calf allows optimizing the energy cost of lactation. This may be a probable reason for high G allele frequency in Yakut cattle breeding in extreme environmental conditions. Similarly, the dramatic fall in milk production after birth of a heifer calf increases the probability of culling for the cows with the G/G genotype in animal husbandry.

Association between I/D Polymorphism of Human LRPAP1 Gene and Body Mass Index in Korean General Population

  • Kang, Byung-Yong;Bae, Hak-Gyoon;Jhin, Hae-Kyung;Lee, Kyung-Soon;Lee, Kang-Oh
    • Toxicological Research
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    • 제19권3호
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    • pp.205-210
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    • 2003
  • The aim of this study was to estimate the influence of 37 bp insertion/deletion (I/O) poly-morphism of the low density lipoprotein receptor-related protein-associated protein 1 (LRPAP1) gene on anthropometrical or biochemical parameters in korean general population. To determine the frequency of the genotype, we analyzed 244 samples of Korean origin. The frequency of the I allele was 0.55 in men and 0.56 in women, which were significantly higher than the frequency (0.26) that was reported in Czech population of Caucasian origin. In addition, the I allele of this polymorphism was significantly associated with higher value of body mass index (BMI) in our subjects by ANOVA test (P<0.05), and this association was maintained after controlling for age and gender by ANCOVA test (P<0.05). Thus, our results suggest that the I/O polymorphism of the LRPAP1 gene may be useful as a genetic marker for obesity in Korean general population.

GSTM1 and GSTT1 Allele Frequencies among Various Indian and non-Indian Ethnic Groups

  • Senthilkumar, K.P.;Thirumurugan, R.
    • 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.

제주마의 혈액형에 관한 연구 I. 적혈구 항원형 (Genetic studies of blood markers in Cheju horses I. Red blood cell types)

  • 조길재;김택수;엄영호;김봉환;유재선
    • 대한수의학회지
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    • 제39권6호
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    • pp.1066-1072
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    • 1999
  • The present study was carried out to investigate the blood markers of Cheju horses. The red cell types (blood groups) were tested from 73 Cheju native horses and 118 Cheju racehorses by serological procedures with 23 reagents. The blood group phenotypes observed with high frequency were Pb(34.3%), Qc(56.2%), Qb(15.1%) and genotypes Dbcm/dghm(12.3%), Dde/dghm(9.6%), Dad/bcm(6.8%), Dcgm/de(6.8%) in Cheju native horses, while Aa(63.6%), Pa(44.9%), P-(28.8%), Qabc(36.4%), Dbcm/cgm(14.4%), Dbcm/bcm(10.2%), Dbcm/de(7.6%), Dbcm/dghm(5.1%), Dde/dk(5.1%) in Cheju racehorses. Alleles observed with high frequency were Ab(0.128), Ac(0.169), Dad(0.103), Dadn(0.075), Ddghm(0.226), Pb(0.316), Qc(0.494) in Cheju native horses and Aa(0.529), Dbcm(0.306), P-(0.531), Qabc(0.197), Q-(0.504) in Cheju racehorses. No specific variation of blood groups and allele frequencies of C,K,U system were observed in Cheju native horses and Cheju racehorses. The mean heterozygosity in Cheju native horses and Cheju racehorses was observed 0.5344 and 0.5102, respectively.

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Amphiregulin (AREG) Genotypes, Allele Frequencies and the First Parity Litter Size in the Pig

  • Kim, Du-Wan;Nam, Yoon Seok;Park, Hee-Bok;Kim, Jong Gug
    • 한국수정란이식학회지
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    • 제30권2호
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    • pp.91-97
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    • 2015
  • Amphiregulin (AREG), a glycoprotein that is a member of the epidermal growth factor (EGF) family, is expressed by the porcine conceptus and endometrium. AREG genotypes were determined based on an SNP in the intron 3 of the gene. Contradictory effects of AREG genotypes on reproductive traits in different pig breeds were reported previously. G allele had undesirable effect on reproductive trait in Meishan breed, while it had favorable effects in Polish Landrace and Large White. We determined AREG genotypes of 179 pigs including the Duroc, Landrace, Yorkshire, Korean native pig (KNP), and Meishan breeds. Two new SNPs were identified near the previously reported SNP in the intron 3 of AREG. Frequencies of AREG alleles among the Duroc, Landrace, Yorkshire, and KNP sows were significantly different (p<0.001), indicating association between AREG genotypes and pig breeds. The first parity litter size was significantly affected by the breeds (p=0.014), but not by AREG genotypes (p=0.148). However, there were breed and AREG genotype associated trends in the first parity litter size. The first parity litter size appeared to be higher in Duroc and KNP sows with G allele, while it appeared to be lower in Landrace sows with G allele. Significant variability of AREG alleles among pig breeds, for the first time in Duroc and KNP sows, was identified. AREG genotypes may influence reproductive traits differentially for each breed and thus, AREG genotypes may need to be considered when sows are bred to increase litter size.

Regional TMPRSS2 V197M Allele Frequencies Are Correlated with COVID-19 Case Fatality Rates

  • Jeon, Sungwon;Blazyte, Asta;Yoon, Changhan;Ryu, Hyojung;Jeon, Yeonsu;Bhak, Youngjune;Bolser, Dan;Manica, Andrea;Shin, Eun-Seok;Cho, Yun Sung;Kim, Byung Chul;Ryoo, Namhee;Choi, Hansol;Bhak, Jong
    • 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.

Genotype distribution and gene frequency of angiotensin I-converting enzyme in Korean population

  • Yang, Young-Mok;Park, Jong-Hwan;Moon, Eon-Soo
    • Journal of Genetic Medicine
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    • 제1권1호
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    • pp.17-22
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    • 1997
  • The angiotensin converting enzyme (ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cardiovascular diseases. Deletion polymorphism in the ACE gene may be a risk factor for myocardial infarction. The insertion/deletion (I/D) polymorphism of the ACE detected by PCR analysis appears to be associated with hypertension in Koreans and its nucleotide was subcloned into T-vector and its nucleotide sequences were determined. We also examined an association between hypertension and genetic variance of ACE. We identified the angiotensin I-converting enzyme genotype in 127 hypertensive and 189 normotensive Korean subjects. The distribution of ACE genotype II, ID, DD were 39.2%, 40.2%, 20.6% respectively and the frequency for ACE alleles I and D were 0.593 and 0.407, respectively in all subjects. The frequency of D allele in Korean males is higher than that of Korean females (male; 0.438 : female; 0.267), and the frequency of I allele in Korean females is higher than that of Korean males (female; 0.733 : male; 0.562). Genotype distributions of angiotensin I-converting enzyme genes in Korean normal adult population were different from that of Caucasians (P<0.001). There were no significant differences in genotype frequency between the hypertensive control group (n=127) and the normotensive group (n=189). We observed significant differences of ACE genotype distribution between the male group and the female group in total (P=0.001) and in hypertensive Korean subjects (P=0.013).

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