• 제목/요약/키워드: alleles frequency

검색결과 190건 처리시간 0.024초

Evaluation of Genetic Effects of Demographic Bottleneck in Muzzafarnagri Sheep from India Using Microsatellite Markers

  • Arora, R.;Bhatia, S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권1호
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    • pp.1-6
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    • 2009
  • Genetic variability is an important component in the ability of populations to adapt in the face of environmental change. Severe human impacts reduced Muzzafarnagri sheep of India from 500,000 in 1972 to 10,989 in 1973-74. Here we report for the first time the effect of this population decline on levels of genetic variability at 13 FAO recommended ovine microsatellite loci and contrast levels of variability to that in a breed from the same geographical region, which differed in numbers, by an order of magnitude (Marwari sheep). Of the 13 loci, 100% were polymorphic in both breeds. A high degree of genetic variation was observed within populations in terms of both allele diversity (number of alleles per locus, >4) and gene diversity (expected heterozygosity, >0.5), which implied that there is still a substantial amount of genetic diversity at the nuclear loci in a declining population. Nevertheless, overall low number of alleles per locus and relatively less abundance of low frequency alleles in Muzzafarnagri sheep suggested that genetic variability has been comparatively reduced in this population. Bottleneck analysis indicated that a genetic bottleneck did not occur during the most recent decline. In addition, we found that the differentiation among populations was moderate ($F_{ST}$= 11.8%). This study on assessment of genetic effects of the population declines in ovines is a step towards identification of genetically impoverished or healthy populations, which could prove to be a useful tool to facilitate conservation planning in this important species of small ruminants.

ON THE ADAPTED EQUATIONS FOR SEVERAL DYPLOID MODEL IN POPULATION GENETICS

  • Choi, Won
    • Korean Journal of Mathematics
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    • 제30권1호
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    • pp.67-72
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    • 2022
  • 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 IAIA, IAIB and IBIB respectively and N is the total number of populations. The frequencies of the genotypes expected are calculated by using p2, 2pq and q2. Choi showed the method of whether some genotypes is in these probabalities. Also he calculate the probability generating function for offspring number of genotype under a diploid model( [1]). In this paper, let x(t, p) be the probability that IA become fixed in the population by time t-th generation, given that its initial frequency at time t = 0 is p. We find adapted equations for x using the mean change of frequence of alleles and fitness of genotype. Also we apply this adapted equations to several diploid model and it also will apply to actual examples.

Novel Mutations in the Displacement Loop of Mitochondrial DNA are Associated with Acute Lymphoblastic Leukemia: A Genetic Sequencing Study

  • Yacoub, Haitham Ahmed;Mahmoud, Wael Mahmoud;El-Baz, Hatim Alaa El-Din;Eid, Ola Mohamed;ELfayoumi, Refaat Ibrahim;Elhamidy, Salem Mohamed;Mahmoud, Maged M.
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권21호
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    • pp.9283-9289
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    • 2014
  • Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Materials and Methods: This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced. Results: This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed. Conclusions: Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.

HLA-A, HLA-B, HLA-DRB1 Polymorphisms and Risk of Cervical Squamous Epithelial Cell Carcinoma: A Population Study in China

  • Xiao, Xue;Liu, Li;Li, Wei-Jie;Liu, Juan;Chen, Dun-Jin
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권7호
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    • pp.4427-4433
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    • 2013
  • Cervical cancer is the second most common cancer in women. HLA class I and II alleles polymorphisms have been shown to be associated with cervical cancer risk, but results have varied among different populations. In this study, the HLA-A, -B, and -DRB1 alleles among 100 southern Chinese women with cervical squamous cell carcinoma (SCC) were compared to 254 controls. Our results showed that $B^*51$:01:02 allele frequency was significantly higher in patients with SCC than in healthy controls ($P=3.17{\times}10^{-5}$, $P_c$=0.005, OR=26.7). Statistical analysis also revealed a significantly decreased frequency of $B^*51$:01:02 ($P=7.01{\times}10^{-4}$, $P_c$=0.03, OR=0.12) in patients with SCC when compared with healthy controls. These results indicate that HLA-$B^*51$:01:02 may confer susceptibility to SCC and HLA-$B^*51$:01:02 may contribute to resistance to the development of SCC in Chinese women. None of the HLA-A-B or HLA-A-B-DRB1 haplotypes were significantly different in cases and controls after multiple testing corrections, indicating the individual allele associations to be independent of the identified haplotypes. These results support the hypothesis that some HLA-B alleles could be involved with susceptibility for developing SCC.

Individual Identification using The Multiplex PCR with Microsatellite Markers in Swine

  • Kim, Lee-Kung;Park, Chang-Min;Park, Sun-Ae;Kim, Seung-Chang;Chung, Hoyoung;Chai, Han-Ha;Jeong, Gyeong-Yong;Choi, Bong-Hwan
    • Reproductive and Developmental Biology
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    • 제37권4호
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    • pp.205-211
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    • 2013
  • The swine is one of the most widespread mammalian throughout the whole world. Presently, many studies concerning microsatellites in swine, especially domestic pigs, have been carried out in order to investigate general diversity patterns among either populations or breeds. Until now, a lot of time and effort spend into a single PCR method. But simple and more rapid multiplex PCR methods have been developed. The purpose of this study is to develop a robust set of microsatellites markers (MS marker) for traceability and individual identification. Using multiplex-PCR method with 23 MS marker divided 2 set, various alleles occurring to 5 swine breed (Berkshire, Landrace, Yorkshire, Duroc and Korea native pig) used markers to determine allele frequency and heterozygosity. MS marker found 4 alleles at SW403, S0227, SWR414, SW1041 and SW1377. The most were found 10 alleles at SW1920. Heterozygosity represented the lowest value of 0.102 at SWR414 and highest value of 0.861 at SW1920. So, it was recognized appropriate allele frequency for individual identification in swine. Using multiplex-PCR method, MS markers used to determine individual identification biomarker and breed-specific marker for faster, more accurate and lower analysis cost. Based on this result, a scientific basis was established to the existing pedigree data by applying genetics additionally. Swine traceability is expected to be very useful system and be conducted nationwide in future.

Identification of Bovine Lymphocyte Antigen DRB3.2 Alleles in Iranian Golpayegani Cattle by DNA Test

  • Mosafer, J.;Nassiry, M.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제18권12호
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    • pp.1691-1695
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    • 2005
  • The bovine lymphocyte antigen (BoLA)-DRB3 gene encodes cell surface glycoproteins that initiate immune responses by presenting processed antigenic peptides to CD4 T helper cells. DRB3 is the most polymorphic bovine MHC class II gene which encodes the peptide-binding groove. Since different alleles favour the binding of different peptides, DRB3 has been extensively evaluated as a candidate marker for associations with various bovine diseases and immunological traits. For that reason, the genetic diversity of the bovine class II DRB3 locus was investigated by polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). This study describes genetic variability in the BoLA-DRB3 in Iranian Golpayegani Cattle. Iranian Golpayegani Cows (n = 50) were genotyped for bovine lymphocyte antigen (BoLA)-DRB3.2 allele by polymerase chain reaction and restriction fragment length polymorphism method. Bovine DNA was isolated from aliquots of whole blood. A two-step polymerase chain reaction followed by digestion with restriction endonucleases RsaI, HaeIII and BstYI was conducted on the DNA from Iranian Golpayegani Cattle. In the Iranian Golpayegani herd studied, we identified 19 alleles.DRB3.2${\times}$16 had the highest allelic frequency (14%), followed by DRB3.2${\times}$7 (11%). Six alleles (DRB3.2${\times}$25, ${\times}$24, ${\times}$22, ${\times}$20, ${\times}$15, ${\times}$3) had frequencies = 2%. Although additional studies are required to confirm the present findings, our results indicate that exon 2 of the BoLA-DRB3 gene is highly polymorphic in Iranian Golpayegani Cattle.

Characterization of the Prolactin Receptor 3 (PRLR3) and Retinol-Binding Protein 4 (RBP4) Genes in the Birth Weight and Early Growth of Berkshire Pigs

  • Do, Chang-Hee;Lee, Dong-Hee;Cho, Byung-Wook
    • Journal of Animal Science and Technology
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    • 제53권3호
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    • pp.185-193
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    • 2011
  • To investigate the influences of candidate genes on the birth weight and the early stages of life, genotyping of the prolactin receptor 3 (PRLR3) and retinol-binding protein 4 (RBP4) genes was performed in 156 and 141 Berkshire pigs, respectively. The frequency of both PRLR3 alleles A and a was 0.50. The frequencies of the RBP4 alleles B and b were 0.42 and 0.58, respectively. Neither locus was in Hardy-Weinberg equilibrium. No significant associations of the PRLR3 alleles with birth or weaning weights and of the RBP4 alleles with birth weight were observed. The proportions of the phenotype variances due to the genotypes of PRLR3 in the feeder weights was 4.0% and those of RBP4 in the weaning and feeder weights were 11.9 and 3.3%, respectively (P < 0.05). The dominance effect of PRLR3 and RBP4 on feeder weights was 2.40 and -1.86 kg, respectively (P < 0.01). The additive and dominance effects of RBP4 on weaning weights were 0.332 and -0.682 kg, respectively (P < 0.01). Even if no significant epistasis of PRLR3 and RBP4 was detected, a considerable trend of consistent positive epistasis estimates of AA/BB and Aa/Bb was observed for all traits. The results of this study may have a considerable impact on early-stage growth by both loci, and a selection strategy should be designed separately for each marker in Berkshire pigs.

Molecular Characterization of Hallikar Breed of Cattle Using Microsatellite Markers

  • Kumar, S. Naveen;Jayashankar, M.R.;Nagaraja, C.S.;Govindaiah, M.G.;Saravanan, R.;Karthickeyan, S.M.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권5호
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    • pp.622-626
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    • 2006
  • Molecular characterization of Hallikar, the native cattle breed of Karnataka, was undertaken using 19 cattle specific, highly polymorphic microsatellite markers recommended by FAO. The genomic DNA was subjected to PCR amplification and alleles were resolved through six per cent denaturing PAGE with a 10 bp DNA ladder followed by silver staining. Genotyping of animals was done based on allele size. The number of alleles ranged from three to nine with allele sizes ranging from 102 bp to 294 bp. These alleles were distributed in the frequency range between 0.0306 and 0.8673 in the population. The mean observed number of alleles was $6.368{\pm}1.4225$. The mean observed and expected heterozygosities were $0.7515{\pm}0.1734$ and $0.7850{\pm}0.1381$, respectively. The high heterozygosity observed implies presence of higher genetic variability within Hallikar breed. The PIC (Polymorphism Information Content) values ranged from 0.2322 (ETH152) to 0.8654 (ETH225). The percentage of polymorphic loci obtained was 100 as all the 19 microsatellite markers were found to be polymorphic. Except for ETH152, all the other loci had high PIC values, indicating that these markers are highly informative for characterization of Hallikar breed. The population was tested for Hardy-Weinberg equilibrium at 19 microsatellite loci, and at 74 per cent of the loci the population was found to be in disequilibrium.

Genetic Diversity of a Chinese Native Chicken Breed, Bian Chicken, Based on Twenty-nine Microsatellite Markers

  • Ding, Fu-Xiang;Zhang, Gen-Xi;Wang, Jin-Yu;Li, Yuan;Zhang, Li-Jun;Wei, Yue;Wang, Hui-Hua;Zhang, Li;Hou, Qi-Rui
    • Asian-Australasian Journal of Animal Sciences
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    • 제23권2호
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    • pp.154-161
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    • 2010
  • The level of genetic differentiation and genetic structure in a Chinese native chicken breed, Bian chicken, and two controlled chicken populations (Jinghai chicken and Youxi chicken in China) were analysed based on 29 microsatellite markers. A total of 166 distinct alleles were observed across the 3 breeds, and 32 of these alleles (19.3%) were unique to only 1 breed. Bian chicken carried the largest number of private alleles at 15 (46.9%), followed by the Jinghai chicken with 12 private alleles (37.5%). The average polymorphism information content (0.5168) and the average expected heterozygote frequency (0.5750) of the Bian chicken were the highest, and those of the Jinghai chicken were 0.4915 and 0.5505, respectively, which were the lowest. Among 29 microsatellite loci, there were 15 highly informative loci in Bian chicken, and the other 14 were reasonably informative loci. The highly informative loci in Jinghai chicken and Youxi chicken were 17 and 14 respectively. Significant deviations from the Hardy-Weinberg equilibrium were observed at several locus-breed combinations, showing a deficit of heterozygotes in many cases. As a whole, genetic differentiation among the breeds estimated by the fixation index (Fst) were at 6.7% (p<0.001). The heterozygote deficit within population (Fis) was 22.2% (p<0.001), with the highest (0.249) in Bian chicken and lowest (0.159) in Youxi chicken. These results serve as an initial step in the plan for genetic characterization and conservation of the Chinese chicken genetic resource of Bian, as well as Jinghai and Youxi chickens.

Genetic diversity of Indonesian cattle breeds based on microsatellite markers

  • Agung, Paskah Partogi;Saputra, Ferdy;Zein, Moch Syamsul Arifin;Wulandari, Ari Sulistyo;Putra, Widya Pintaka Bayu;Said, Syahruddin;Jakaria, Jakaria
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권4호
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    • pp.467-476
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    • 2019
  • Objective: This research was conducted to study the genetic diversity in several Indonesian cattle breeds using microsatellite markers to classify the Indonesian cattle breeds. Methods: A total of 229 DNA samples from of 10 cattle breeds were used in this study. The polymerase chain reaction process was conducted using 12 labeled primers. The size of allele was generated using the multiplex DNA fragment analysis. The POPGEN and CERVUS programs were used to obtain the observed number of alleles, effective number of alleles, observed heterozygosity value, expected heterozygosity value, allele frequency, genetic differentiation, the global heterozygote deficit among breeds, and the heterozygote deficit within the breed, gene flow, Hardy-Weinberg equilibrium, and polymorphism information content values. The MEGA program was used to generate a dendrogram that illustrates the relationship among cattle population. Bayesian clustering assignments were analyzed using STRUCTURE program. The GENETIX program was used to perform the correspondence factorial analysis (CFA). The GENALEX program was used to perform the principal coordinates analysis (PCoA) and analysis of molecular variance. The principal component analysis (PCA) was performed using adegenet package of R program. Results: A total of 862 alleles were detected in this study. The INRA23 allele 205 is a specific allele candidate for the Sumba Ongole cattle, while the allele 219 is a specific allele candidate for Ongole Grade. This study revealed a very close genetic relationship between the Ongole Grade and Sumba Ongole cattle and between the Madura and Pasundan cattle. The results from the CFA, PCoA, and PCA analysis in this study provide scientific evidence regarding the genetic relationship between Banteng and Bali cattle. According to the genetic relationship, the Pesisir cattle were classified as Bos indicus cattle. Conclusion: All identified alleles in this study were able to classify the cattle population into three clusters i.e. Bos taurus cluster (Simmental Purebred, Simmental Crossbred, and Holstein Friesian cattle); Bos indicus cluster (Sumba Ongole, Ongole Grade, Madura, Pasundan, and Pesisir cattle); and Bos javanicus cluster (Banteng and Bali cattle).