• Title/Summary/Keyword: population genetics

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Molecular Characterization of Rathi and Tharparkar Indigenous Cattle (Bos indicus) Breeds by RAPD-PCR

  • Sharma, Amit Kumar;Bhushan, Bharat;Kumar, Sanjeev;Kumar, Pushpendra;Sharma, Arjava;Kumar, Satish
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.9
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    • pp.1204-1209
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    • 2004
  • Random amplification of polymorphic DNA-Polymerase Chain Reaction (RAPD-PCR) analysis was carried out using DNA samples of 30 animals of Rathi cattle and 42 animals of Tharparkar cattle. Genomic DNA was isolated as per standard protocol and evaluated for its quality, purity and concentration. Twenty three random primers were screened out of which 15 primers yielded satisfactory amplifications and were used for further analysis. Average numbers of polymorphic fragments per primer were 7.07${\pm}$0.86 in Rathi and 6.80${\pm}$0.61 in Tharparkar cattle. The percentage of polymorphic bands in these two cattle breeds were 86 and 87%, respectively. Within breed genetic similarities for pooled over primers in the animals of Rathi and Tharparkar breeds were .577${\pm}$0.30 and 0.531${\pm}$0.02, respectively on the basis of band frequency (BF) and 0.645${\pm}$0.04 and 0.534${\pm}$0.04, respectively on the basis of band sharing (BS). Averages of between breed genetic similarities for pooled over primers were 0.97 and 0.92 according to BF and BS, respectively, which reflect higher degree of genetic similarity between Rathi and Tharparkar cattle breeds. Index of genetic distance based on BF and BS for pooled over primers was 0.030${\pm}$0.011 and 0.088${\pm}$0.031, respectively. Percentage of polymorphic bands and within-breed genetic similarities on the basis of band frequency (BF) and band sharing (BS) for pooled over primers revealed higher genetic similarity in Rathi than Tharparkar cattle population. High estimates of between breed genetic similarities for pooled over primers indicated that either Rathi is having decent from Tharparkar or both the cattle breeds are having common descent. Low value of Index of genetic distances between these two cattle breeds may be due to the fact that Rathi and Tharparkar cattle breeds are the native of Thar Desert in Northwest India. The results of between breed genetic distances also confirm the existence of high degree of genetic similarity between these two breeds of cattle.

Characteristics of Leaf Morphology, Vegetation and Genetic Variation in the Endemic Populations of a Rare Tree Species, Koelreuteria paniculata Laxm (희귀수종(稀貴樹種) 모감주나무 자생집단(自生集團)의 잎의 형태적(形態的) 특성(特性), 식생특성(植生特性) 및 유전변이(遺傳變異))

  • Lee, Seok Woo;Kim, Sun Chang;Kim, Won Woo;Han, Sang Don;Yim, Kyong Bin
    • Journal of Korean Society of Forest Science
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    • v.86 no.2
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    • pp.167-176
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    • 1997
  • Characteristics of leaf morphology and vegetation were examined in 6 populations of rare endemic tree species, Koelreuteria paniculata Laxm. Additionally we studied genetic variation employing isozyme marker. Nested anova showed that there were statistically significant differences among populations as well as among individuals within populations in all 8 leaf morphological traits. In 7 of 8 traits, variance components among populations were larger than those among individuals within populations. Only a few tree species were found within each population and all the populations seemed to have been disturbed by man. Level of genetic diversity for this rare endemic species was very low, especially compared with those of geographically widespread tree species(A/L=1.1, P=9.5%, $H_o=0.021$, $H_e=0.035$) and degree of genetic differentiation was high($F_{ST}=0.114$). Factors contributing to the low level of genetic diversity and high level of genetic differentiation might include genetic drift, inbreeding and limited gene flow. Finally, implications for the conservation of genetic diversity of Koelreuteria paniculata were discussed.

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Genetic control of shell color variation in the Haliotis discus hannai by mating experiments (교배실험을 통한 북방전복 (Haliotis discus hannai)의 패각색 변이에 대한 유전적 지배)

  • Park, Choul Ji;Nam, Won Shik;Lee, Myeong Seok;Kang, Ji-Yun;Kim, Kyung Kil
    • The Korean Journal of Malacology
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    • v.30 no.4
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    • pp.409-413
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    • 2014
  • Purple-colored shell individuals were discovered among normal green-colored shell individuals in artificial seed of Pacific abalone, Haliotis discus hannai, reared on an ordinary type of diatom and artificial diet. In the present study, factorial mating experiments were designed to clarify the genetic control of the variant (purple type) and normal (green type) of shell color. The parental population of purple type and green type individuals were derived from a single family between a female and male of each type of coloration. The all mating families were reared in same tank for the same breed environment. The individual of 4 type families were distinguished by paternity test using microsatellite DNA. In factorial mating experiments, all individuals offspring of GG (green type female and green type male), GP (green type female and purple type male) and PG (purple type female and green type male) mating types appeared to green type. In only PP (purple type female and purple type male) mating type, all individuals offspring appeared to purple type. The results suggested that the purple shell color is controlled by recessive purple type allele and a dominant green type allele at a single locus.

Association Analysis of Monocyte Chemotactic Protein-3 (MCP3) Polymorphisms with Asthmatic Phenotypes

  • Park, Byung-Lae;Kim, Lyoung-Hyo;Choi, Yoo-Hyun;Cheong, Hyun-Sub;Park, Hae-Sim;Hong, Soo-Jong;Choi, Byoung-Whui;Lee, June-Hyuk;Uh, Soo-Taek;Park, Choon-Sik;Shin, Hyoung-Doo
    • BMB Reports
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    • v.38 no.1
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    • pp.77-81
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    • 2005
  • The monocyte chemotactic protein-3 (MCP3), on chromosome 17q11.2-q12, is a secreted chemokine, which attracts macrophages during inflammation and metastasis. In an effort to discover additional polymorphism(s) in genes whose variant(s) have been implicated in asthma, we scrutinized the genetic polymorphisms in MCP3 to evaluate it as a potential candidate gene for asthma host genetic study. By direct DNA sequencing in twenty-four individuals, we identified four sequence variants within the 3 kb full genome including 1,000bp promoter region of MCP3; one in promoter region (-420T>C), three in intron (+136C>G, +563C>T, +984G>A) respectively. The frequencies of those four SNPs were 0.020 (-420T>C), 0.038 (+136C>G), 0.080 (+563C>T), 0.035 (+984G>A), respectively, in Korean population (n = 598). Haplotypes, their frequencies and linkage disequilibrium coefficients (|D'|) between SNP pairs were estimated. The associations with the risk of asthma, skin-test reactivity and total serum IgE levels were analyzed. Using statistical analyses for association of MCP3 polymorphisms with asthma development and asthma-related phenotypes, no significant signals were detected. In conclusion, we identified four genetic polymorphisms in the important MCP3 gene, but no significant associations of MCP3 variants with asthma phenotypes were detected. MCP3 variation/haplotype information identified in this study will provide valuable information for future association studies of other allergic diseases.

Low Frequency of ETV6-RUNX1 (t 12; 21) in Saudi Arabian Pediatric Acute Lymphoblastic Leukemia Patients: Association with Clinical Parameters and Early Remission

  • Aljamaan, Khaled;Aljumah, Talal khalid;Aloraibi, Saleh;Absar, Muhammad;Iqbal, Zafar
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.17
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    • pp.7523-7527
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    • 2015
  • Background: Pediatric acute lymphoblastic leukemia (pALL) patients at King Abdulaziz Medical City represent a pure Saudi Arabian population. ETV6-RUNX1 positive pALL patients have good prognosis as compared to ETV6-RUNX1 negative counterparts. Therefore, frequencies of these two patient groups have a huge consideration in treatment strategies of pALL in a given population. Different geographical locations have been reported to have different frequencies of ETV6-RUNX1 ranging from 10% in Southeast Asia to 30% in Australia. Aim: Therefore, the objective of this study was to establish the ETV6-RUNX1 status of Saudi Arabian pALL patients and its association with clinical parameters and early remission. Materials and Methods: Clinical parameters and ETV6-RUNX1 status (using FISH technique) of pALL patients attending the Pediatric Oncology Clinic, King Abdulaziz Medical City, Riyadh from 2006 to 2011 were studied. Comparisons between ETV6-RUNX1 positive and negative groups were accomplished using chi-square test or Fisher's exact test. All statistical analyses were performed using SAS version 9.2 (SAS Institute, Inc., Cary, NC). Results: Out of 54 patients, 33 were male and 21 were females (ratio 1.57:1). B- and T-cell lineages were found in 47 (87%) and 7 (13%) patients respectively. Only 5 (9.3%) patients were ETV6-RUNX1 positive while 49(80.7%) were ETV6-RUNX1 negative. All ETV6-RUNX1 patients (100%) were of B-cell lineage and 80% (4/5) were in the 3-7 year age group. None of the ETV6-RUNX11 patients had ${\geq}5%$ blasts (no remission) at day 14 as compared with 9% in the ETV6-RUNX1 negative group (Figure 1). Conclusions: Frequency of ETV6-RUNX1 positive patients (less than 10%) in our pALL patients is much lower than reported for most European countries, North America, Australia and Japan while it is in accordance with ETV6-RUNX1 frequencies from Egypt (11.6%), Pakistan (10%), Spain (2%) and India (5-7%). This shows ethnic differences in genetics of pALL as well as higher frequencies of ETV6-RUNX1 positive pALL mostly in more industrialized countries, probably due to some industrial pollutants or westernized lifestyle.

CYP2E1*5B, CYP2E1*6, CYP2E1*7B, CYP2E1*2, and CYP2E1*3 Allele Frequencies in Iranian Populations

  • Shahriary, Ghazaleh Mohammadzadeh;Galehdari, Hamid;Jalali, Amir;Zanganeh, Fatemeh;Alavi, Seyed Mohammad Reza;Aghanoori, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6505-6510
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    • 2012
  • Background: CYP2E1 encodes an enzyme which is mainly involved in bioactivation of potential carcinogens such as N-nitrosamines. Polymorphisms in the gene have been reported to be associated with cancer. The aim of this study was to evaluate genotype distributions and allele frequencies of five CYP2E1 polymorphisms in Iran Materials and Methods: Two hundred healthy individuals of an Iranian population from the southwest were included in this study. PCR-restriction fragment length polymorphism and Tetra-ARMS PCR methods were applied for CYP2E1 genotyping. Results: The allele frequencies for $^*5B$, $^*6$, $^*7B$, $^*2$, and $^*3$ were calculated to be 1.5%, 16%, 28.5%, 0%, and 2.75% respectively. Results of this study showed that no significant differences in genotype and allele frequencies of five single nucleotide polymorphisms with respect to the gender and tribes. The chi-square test showed that the genotype frequencies of $CYP2E1^*5B$ were similar to Caucasians, but the distribution of $CYP2E1^*6$ genotypes was similar to Asians. The frequencies of $CYP2E1^*2$ (0%) and $CYP2E1^*3$ (2.75%) alleles were within the range for Caucasians and Orientals. In the case of $CYP2E1^*7B$, the data werelimited. Accordingly, the results were only compared with Europeans and the comparison showed significant differences. Conclusions: In conclusion, ethnic and geographic differences may explain discrepancies in the prevalence of CYP2E1 polymorphisms.

Lack of Association of a Common Polymorphism in the 3'-UTR of Interleukin 8 with Non Small Cell Lung Cancer in Kashmir

  • Bhat, Imtiyaz Ahmad;Pandith, Arshid A.;Bhat, Bashir A.;Naykoo, Niyaz A.;Qasim, Iqbal;Rasool, Roohi;Aziz, Sheik Aejaz;Shah, Zafar Amin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.7
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    • pp.4403-4408
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    • 2013
  • Background: Chronic inflammation is considered as an important factor in the pathogenesis of lung cancer. The presence of inflammatory cells and higher levels of pro-inflammatory cytokines in the tumor microenvironment and their surrounding tissues is gaining much importance in research. Materials and Methods: One hundred ninety NSCLC cases and 200 age, smoking and sex matched controls were evaluated for association of IL-8 -251 (rs4073) and IL-8 -845 (rs2227532) in our population. Restriction fragment length polymorphism (RFLP) was used followed by direct sequencing for the detection of SNPs. Results: The IL-8 -845 polymorphism was not found in our population. No significant association was observed between the IL-8 -251 AT genotypes and IL-8 -25 AA genotypes and NSCLC (p=0.05) in our population. The IL-8 -251 A allele was also non-significant (p=0.05) in NSCLC patients. Conclusions: In conclusion, this report reveals lack of association between IL-8 - 251 A/T polymorphism and NSCLC in our Kashmir Valley population.

Comparison of Population Based Cancer Incidence Rates among Circassians, Chechans and Arabs in Jordan (1996-2005)

  • Fathallah, Raja Mohd-Talal;Dajani, Rana
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.6035-6040
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    • 2013
  • Background: Cancer is a complex disease caused by multiple factors, both genetic and environmental. It is a major health concern worldwide, in the Middle East and in Jordan specifically and the fourth most common killer in the Middle East. Hypothesis: The relative genetic homogeneity of the Circassian and Chechan populations in Jordan results in incidences of cancer that differ from the general Jordanian population, who are mostly Arabs. Materials and Methods: National Cancer Registry data were obtained for the years 1996-2005 The Chechen and Circassian cancer cases were identified and cancer registry data were divided into three populations. Crude rates were calculated based on the number of cancer cases and estimated populations. Results: Breast cancer is the most common cancer type constituting about one third of female cancers in all three populations. Higher crude rates are observed in the Circassian and Chechen populations than in the Arab Jordanian population. The rate ratios (95%CI) in Circassians and Chechens with respect to the Arab Jordanian population are 2.1 (1.48, 2.72) and 1.81 (1.16, 2.85), respectively. Lung cancer is the most common cancer in male Arab Jordanians and Chechens with crude rates of 4.2 and 8.0 per 100,000 respectively. The male to female ratio in these two populations in respective order are 5:1 and 7:1. The lung cancer crude rate in Circassians is 6.5 per 100,000 with a male to female ratio of only 1.6:1. The colorectal cancer crude rates in Arab Jordanians and Chechens are similar at 6.2 and 6.0 per 100,000, respectively, while that in Circassians is twice as high. Conclusions: Considerable ethnic variation exists for cancer incidence rates in Jordan. The included inbred and selected populations offer an ideal situation for investigating genetic factors involved in various cancer types.

A Genetic Analysis of Taoyuan Pig and Its Phylogenetic Relationship to Eurasian Pig Breeds

  • Li, Kuan-Yi;Li, Kuang-Ti;Cheng, Chun-Chun;Chen, Chia-Hsuan;Hung, Chien-Yi;Ju, Yu-Ten
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.4
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    • pp.457-466
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    • 2015
  • Taoyuan pig is a native Taiwan breed. According to the historical record, the breed was first introduced to Taiwan from Guangdong province, Southern China, around 1877. The breed played an important role in Taiwan's early swine industry. It was classified as an indigenous breed in 1986. After 1987, a conserved population of Taoyuan pig was collected and reared in isolation. In this study, mitochondrial DNA sequences and 18 microsatellite markers were used to investigate maternal lineage and genetic diversity within the Taoyuan pig population. Population differentiation among Taoyuan, Asian type, and European type pig breeds was also evaluated using differentiation indices. Only one D-loop haplotype of the Taoyuan pig was found. It clustered with Lower Changjiang River Basin and Central China Type pig breeds. Based on the polymorphism of microsatellite markers, a positive fixation index value ($F_{IS}$) indicates that the conserved Taoyuan population suffers from inbreeding. In addition, high $F_{ST}$ values (>0.2105) were obtained, revealing high differentiation among these breeds. Non-metric multi-dimensional scaling showed a clear geometric structure among 7 breeds. Together these results indicate that maternally Taoyuan pig originated in the Lower Changjiang River Basin and Central China; however, since being introduced to Taiwan differentiation has occurred. In addition, Taoyuan pig has lost genetic diversity in both its mitochondrial and nuclear genomes.

Evolutionary Analyses of Hanwoo (Korean Cattle)-Specific Single-Nucleotide Polymorphisms and Genes Using Whole-Genome Resequencing Data of a Hanwoo Population

  • Lee, Daehwan;Cho, Minah;Hong, Woon-young;Lim, Dajeong;Kim, Hyung-Chul;Cho, Yong-Min;Jeong, Jin-Young;Choi, Bong-Hwan;Ko, Younhee;Kim, Jaebum
    • Molecules and Cells
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    • v.39 no.9
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    • pp.692-698
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    • 2016
  • Advances in next generation sequencing (NGS) technologies have enabled population-level studies for many animals to unravel the relationships between genotypic differences and traits of specific populations. The objective of this study was to perform evolutionary analysis of single nucleotide polymorphisms (SNP) in genes of Korean native cattle Hanwoo in comparison to SNP data from four other cattle breeds (Jersey, Simmental, Angus, and Holstein) and four related species (pig, horse, human, and mouse) obtained from public databases through NGS-based resequencing. We analyzed population structures and differentiation levels for the five cattle breeds and estimated species-specific SNPs with their origins and phylogenetic relationships among species. In addition, we identified Hanwoo-specific genes and proteins, and determined distinct changes in protein-protein interactions among five species (cattle, pig, horse, human, mouse) in the STRING network database by additionally considering indirect protein interactions. We found that the Hanwoo population was clearly different from the other four cattle populations. There were Hanwoo-specific genes related to its meat trait. Protein interaction rewiring analysis also confirmed that there were Hanwoo-specific protein-protein interactions that might have contributed to its unique meat quality.