Migration and invasion enhancer 1 (MIEN1) is a membrane-anchored protein that is highly expressed in various types of cancer, and is correlated with the PI3K/AKT pathway. The aim of this study was to investigate the expression of MIEN1 and its clinical pathological significance in breast cancer. We used immunohistochemical staining to examine the expression of MIEN1 in 40 samples of human breast cancer tissue and 10 samples taken from regions adjacent to normal breast tissue. The rate of detection of MIEN1 protein was 67.5%, which was significantly higher than that in adjacent non-cancerous breast tissue (0%, P < 0.05). The expression of MIEN1 correlated with age, World Health Organization grade, and lymph node metastasis, but not with tumor size or family history of cancer. Kaplan-Meier survival analysis showed that patients with positive MIEN1 protein expression had a lower overall survival rate than patients who did not express MIEN1. Downregulation of MIEN1 suppressed the expression of matrix metallopeptidase 9 by downregulating the expression of protein kinase B (also known as AKT) in breast cancer cells. Our results indicate that MIEN1 overexpression may facilitate migration and invasion in breast cancer, and MIEN1 is a potential molecular target for cancer chemotherapy.
{"title":"Migration and invasion enhancer 1 (MIEN1) is overexpressed in breast cancer and is a potential new therapeutic molecular target.","authors":"H.-B. Zhao, X-F Zhang, Hb Wang, M. Zhang","doi":"10.4238/gmr16019380","DOIUrl":"https://doi.org/10.4238/gmr16019380","url":null,"abstract":"Migration and invasion enhancer 1 (MIEN1) is a membrane-anchored protein that is highly expressed in various types of cancer, and is correlated with the PI3K/AKT pathway. The aim of this study was to investigate the expression of MIEN1 and its clinical pathological significance in breast cancer. We used immunohistochemical staining to examine the expression of MIEN1 in 40 samples of human breast cancer tissue and 10 samples taken from regions adjacent to normal breast tissue. The rate of detection of MIEN1 protein was 67.5%, which was significantly higher than that in adjacent non-cancerous breast tissue (0%, P < 0.05). The expression of MIEN1 correlated with age, World Health Organization grade, and lymph node metastasis, but not with tumor size or family history of cancer. Kaplan-Meier survival analysis showed that patients with positive MIEN1 protein expression had a lower overall survival rate than patients who did not express MIEN1. Downregulation of MIEN1 suppressed the expression of matrix metallopeptidase 9 by downregulating the expression of protein kinase B (also known as AKT) in breast cancer cells. Our results indicate that MIEN1 overexpression may facilitate migration and invasion in breast cancer, and MIEN1 is a potential molecular target for cancer chemotherapy.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134523867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The incidence of liver cancer has gradually risen to a high level in China, and tumor metastasis occurs via multiple pathways. Alpha fetal protein (AFP) is the main biomarker of liver cancer micrometastases. A recent study showed that glypican-3 (GPC3), which is abundant in hepatoma cells, has promising specificity and could be used to determine the presence of malignant cells. The nested polymerase chain reaction (PCR) technique is superior in experimental sensitivity. Using rat models of liver cancer in the current study, we utilized nested PCR to detect Gpc3 and Afp mRNA to determine their relationship with liver cancer micrometastases. The aim was to provide an experimental basis for clinical examination. We randomly assigned male Sprague-Dawley rats to sham and experimental groups. The experimental group constituted a liver cancer model induced by diethylnitrosamine, whereas the sham group was administered with an equivalent volume of normal saline. Gpc3 and Afp mRNA was detected using nested PCR. Analysis was performed to determine statistical significance. Compared with the sham group, the rates of occurrence of Gpc3 and Afp mRNA were significantly higher in the experimental group (P < 0.05). Compared with the total positive ratio of hepatoma cells examined by joint detection, the rates of occurrence of Gpc3 and Afp mRNA increased significantly in the four subgroups of the experimental group (P < 0.05). The use of nested PCR significantly improved sensitivity for the detection of Gpc3 and Afp mRNA in liver cancer micrometastases.
{"title":"Nested polymerase chain reaction technique for the detection of Gpc3 and Afp mRNA in liver cancer micrometastases.","authors":"J. Luo, K. Yang, Y. Wen","doi":"10.4238/gmr16018947","DOIUrl":"https://doi.org/10.4238/gmr16018947","url":null,"abstract":"The incidence of liver cancer has gradually risen to a high level in China, and tumor metastasis occurs via multiple pathways. Alpha fetal protein (AFP) is the main biomarker of liver cancer micrometastases. A recent study showed that glypican-3 (GPC3), which is abundant in hepatoma cells, has promising specificity and could be used to determine the presence of malignant cells. The nested polymerase chain reaction (PCR) technique is superior in experimental sensitivity. Using rat models of liver cancer in the current study, we utilized nested PCR to detect Gpc3 and Afp mRNA to determine their relationship with liver cancer micrometastases. The aim was to provide an experimental basis for clinical examination. We randomly assigned male Sprague-Dawley rats to sham and experimental groups. The experimental group constituted a liver cancer model induced by diethylnitrosamine, whereas the sham group was administered with an equivalent volume of normal saline. Gpc3 and Afp mRNA was detected using nested PCR. Analysis was performed to determine statistical significance. Compared with the sham group, the rates of occurrence of Gpc3 and Afp mRNA were significantly higher in the experimental group (P < 0.05). Compared with the total positive ratio of hepatoma cells examined by joint detection, the rates of occurrence of Gpc3 and Afp mRNA increased significantly in the four subgroups of the experimental group (P < 0.05). The use of nested PCR significantly improved sensitivity for the detection of Gpc3 and Afp mRNA in liver cancer micrometastases.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"58 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132041978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Two cassava escapes where collected from cultivated fields near natural habitat in Bolivia. They are described morphologically and analyzed cytogenetically in this study. It is suggested that they are the product of backcrosses of cassava interspecific hybrids with the cultigen itself, and that selective conditions have developed in which certain forms of cassava segregates have adapted to grow wildly in natural habitats near cassava fields. These segregates may hybridize with cultivated cassava upon coming in contact with such varieties. Because these escapes have incorporated useful genes from the wild into their genetic structure, they could be used for cassava improvement since their genetic barriers with other forms of cassava are very weak.
{"title":"Case of escape in cassava, Manihot esculenta Crantz.","authors":"N. Nassar, M. Mendonza","doi":"10.4238/gmr16019577","DOIUrl":"https://doi.org/10.4238/gmr16019577","url":null,"abstract":"Two cassava escapes where collected from cultivated fields near natural habitat in Bolivia. They are described morphologically and analyzed cytogenetically in this study. It is suggested that they are the product of backcrosses of cassava interspecific hybrids with the cultigen itself, and that selective conditions have developed in which certain forms of cassava segregates have adapted to grow wildly in natural habitats near cassava fields. These segregates may hybridize with cultivated cassava upon coming in contact with such varieties. Because these escapes have incorporated useful genes from the wild into their genetic structure, they could be used for cassava improvement since their genetic barriers with other forms of cassava are very weak.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134261491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. Maltese, E. Poplavskaia, I. Malyutkina, F. Sirocco, A. Bonizzato, N. Capodicasa, S. Nicoulina, A. Salmina, N. Aksutina, Munis Dundar, T. Beccari, S. Cecchin, Matteo Bertelli
The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases. The goal is to promote diagnosis of genetic diseases at low-cost and with relative ease, thereby enabling appropriate treatments, reducing mortality, and preventing genetic diseases in high-risk families.
{"title":"Genetic tests for low- and middle-income countries: a literature review.","authors":"P. Maltese, E. Poplavskaia, I. Malyutkina, F. Sirocco, A. Bonizzato, N. Capodicasa, S. Nicoulina, A. Salmina, N. Aksutina, Munis Dundar, T. Beccari, S. Cecchin, Matteo Bertelli","doi":"10.4238/gmr16019466","DOIUrl":"https://doi.org/10.4238/gmr16019466","url":null,"abstract":"The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases. The goal is to promote diagnosis of genetic diseases at low-cost and with relative ease, thereby enabling appropriate treatments, reducing mortality, and preventing genetic diseases in high-risk families.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"173 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114153763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. P. de Carvalho, F. J. C. Farias, J. Rodrigues, N. Suassuna, P. Teodoro
Studying genetic diversity among a group of genotypes is important in genetic breeding because identifying hybrid combinations of greater heterotic effect also increases the chance of obtaining plants with favorable allele combinations in an intra-population selection program. The objective of this study was to compare different types of long and extra-long staple cotton and their genetic diversity in relation to the fiber traits and some agronomic traits in order to grant breeding programs. Diversity analysis among 29 cotton accessions based on qualitative and quantitative traits and joint including qualitative and quantitative traits was performed. Analysis based on qualitative and quantitative traits and joint met the accessions in three, two, and three groups, respectively. The cross between genotypes Giza 59 and Pima unknown was the most promising to generate segregating populations, comprising simultaneously resistance (based on molecular markers) to blue disease and bacterial blight, partial resistance to root-knot nematode, smaller size, in addition to good fiber characteristics. These populations can be used in recurrent selection programs as donors of alleles for development of long-staple cotton genotypes.
{"title":"Genetic diversity among exotic cotton accessions as for qualitative and quantitative traits.","authors":"L. P. de Carvalho, F. J. C. Farias, J. Rodrigues, N. Suassuna, P. Teodoro","doi":"10.4238/gmr16019590","DOIUrl":"https://doi.org/10.4238/gmr16019590","url":null,"abstract":"Studying genetic diversity among a group of genotypes is important in genetic breeding because identifying hybrid combinations of greater heterotic effect also increases the chance of obtaining plants with favorable allele combinations in an intra-population selection program. The objective of this study was to compare different types of long and extra-long staple cotton and their genetic diversity in relation to the fiber traits and some agronomic traits in order to grant breeding programs. Diversity analysis among 29 cotton accessions based on qualitative and quantitative traits and joint including qualitative and quantitative traits was performed. Analysis based on qualitative and quantitative traits and joint met the accessions in three, two, and three groups, respectively. The cross between genotypes Giza 59 and Pima unknown was the most promising to generate segregating populations, comprising simultaneously resistance (based on molecular markers) to blue disease and bacterial blight, partial resistance to root-knot nematode, smaller size, in addition to good fiber characteristics. These populations can be used in recurrent selection programs as donors of alleles for development of long-staple cotton genotypes.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"57 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122985476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J. Jiménez-Villarreal, D. I. Rivas-Armendáriz, R. D. A. Pérez-Vertti, E. H. O. Calderón, R. García-Garza, N. D. Betancourt-Martínez, L. Serrano-Gallardo, J. Morán-Martínez
At present, the use of nanoparticles is a controversial topic, especially when analyzing their effects in human tissues. Nanoparticles (NPs) can cause oxidative stress by increasing membrane lipids peroxidation and reactive oxygen species, and decreasing intracellular glutathione. Oxidative stress plays an important role in cell signaling and inflammatory responses. It can result in genotoxicity, affect cell proliferation, and induce DNA damage. The objective of this study is to evaluate the genotoxic potential of NPs in lymphocyte DNA. Wistar female rats (N = 45) were sorted in three randomized groups as follows: Group 1 (N = 20); Group 2 (N = 20) and a control group (N = 5). A single dose of iron oxide (Fe2O3) and silicon oxide (SiO2) NPs dissolved in saline solution were administered orally to the rats. Cardiac puncture was performed to extract peripheral blood for genotoxic analysis. DNA fragmentation for lymphocytes was performed. Control rats showed a fragmentation percentage of 11.20 ± 2.16%. Rats exposed to SiO2 and Fe2O3 NPs for 24 h showed statistically significant differences in DNA fragmentation percentages as compared with that of the control group. A lineal dose-response correlation between genotoxic damage and exposure to SiO2 and Fe2O3 NPs was found (r2 = 0.99 and 0.98 for SiO2 and Fe2O3, respectively). In conclusion, we found that exposure to Fe2O3 and SiO2 NPs can cause DNA fragmentation in lymphocytes in a dose-dependent manner.
{"title":"Relationship between lymphocyte DNA fragmentation and dose of iron oxide (Fe2O3) and silicon oxide (SiO2) nanoparticles.","authors":"J. Jiménez-Villarreal, D. I. Rivas-Armendáriz, R. D. A. Pérez-Vertti, E. H. O. Calderón, R. García-Garza, N. D. Betancourt-Martínez, L. Serrano-Gallardo, J. Morán-Martínez","doi":"10.4238/gmr16019206","DOIUrl":"https://doi.org/10.4238/gmr16019206","url":null,"abstract":"At present, the use of nanoparticles is a controversial topic, especially when analyzing their effects in human tissues. Nanoparticles (NPs) can cause oxidative stress by increasing membrane lipids peroxidation and reactive oxygen species, and decreasing intracellular glutathione. Oxidative stress plays an important role in cell signaling and inflammatory responses. It can result in genotoxicity, affect cell proliferation, and induce DNA damage. The objective of this study is to evaluate the genotoxic potential of NPs in lymphocyte DNA. Wistar female rats (N = 45) were sorted in three randomized groups as follows: Group 1 (N = 20); Group 2 (N = 20) and a control group (N = 5). A single dose of iron oxide (Fe2O3) and silicon oxide (SiO2) NPs dissolved in saline solution were administered orally to the rats. Cardiac puncture was performed to extract peripheral blood for genotoxic analysis. DNA fragmentation for lymphocytes was performed. Control rats showed a fragmentation percentage of 11.20 ± 2.16%. Rats exposed to SiO2 and Fe2O3 NPs for 24 h showed statistically significant differences in DNA fragmentation percentages as compared with that of the control group. A lineal dose-response correlation between genotoxic damage and exposure to SiO2 and Fe2O3 NPs was found (r2 = 0.99 and 0.98 for SiO2 and Fe2O3, respectively). In conclusion, we found that exposure to Fe2O3 and SiO2 NPs can cause DNA fragmentation in lymphocytes in a dose-dependent manner.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128650534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Y. Liu, G. Q. Chen, B. Liu, Qinkai Chen, Y. Qian, S. Qin, Chenglong Liu, Changshui Xu
To investigate the role of the P2X7 receptor in learning and memory dysfunction induced by HIV-1 envelope glycoprotein gp120 (gp120), we established HIV-1-associated dementia (HAD) animal models by intracerebroventricular (ICV) infusion of gp120 in rats. We observed gp120-induced cognitive dysfunction in the radial arm water maze test. Results showed that rats in the gp120 groups had longer escape latencies and more errors compared to those in the control group. For example, the average trial time in the 50-ng/day-gp120 group on day eight (16.57 ± 1.71 s, N = 90) was significantly longer than that of control rats (9.93 ± 0.68 s, N = 90). The relative expression of P2X7 mRNA in the control, 50-, 70-, and 100-ng/day-gp120 groups were 0.43 ± 0.06, 0.48 ± 0.07, 0.83 ± 0.05, and 0.84 ± 0.10, respectively; relative P2X7 protein expression in those groups was 0.63 ± 0.07, 1.08 ± 0.06, 0.90 ± 0.07, and 1.03 ± 0.11, respectively. According to immunohistochemistry analysis, the staining intensity values for P2X7 protein expression in the control, 50-, 70-, and 100-ng/d-gp120 groups were 0.88 ± 0.07, 1.41 ± 0.12, 1.28 ± 0.13, and 1.31 ± 0.10, respectively. The above results showed that the expression of P2X7 increased significantly in the hippocampus of gp120 rats compared to that of the control group. These results suggest that ICV infusion of gp120 can successfully mimic HAD in rats, and P2X7 may be involved in gp120-induced cognitive dysfunction. This could provide a theoretical foundation and potential drug target for research and treatment of ADC.
为了研究P2X7受体在HIV-1包膜糖蛋白gp120 (gp120)诱导的学习记忆功能障碍中的作用，我们通过脑室内(ICV)输注gp120建立了大鼠HIV-1相关痴呆(HAD)动物模型。我们在桡臂水迷宫实验中观察到gp120诱导的认知功能障碍。结果显示，与对照组相比，gp120组大鼠有更长的逃避潜伏期和更多的错误。例如，50-ng/day-gp120组在第8天的平均试验时间(16.57±1.71 s, N = 90)显著长于对照组(9.93±0.68 s, N = 90)。对照组、50-、70-和100-ng/day gp120组P2X7 mRNA相对表达量分别为0.43±0.06、0.48±0.07、0.83±0.05和0.84±0.10;各组P2X7蛋白相对表达量分别为0.63±0.07、1.08±0.06、0.90±0.07、1.03±0.11。免疫组化分析显示，对照组、50-组、70-组、100-ng/d-gp120组P2X7蛋白表达的染色强度值分别为0.88±0.07、1.41±0.12、1.28±0.13、1.31±0.10。以上结果表明，gp120大鼠海马组织中P2X7的表达较对照组明显增加。这些结果表明，ICV输注gp120可以成功模拟大鼠HAD, P2X7可能参与gp120诱导的认知功能障碍。这为ADC的研究和治疗提供了理论基础和潜在的药物靶点。
{"title":"P2X7 receptor in the hippocampus is involved in gp120-induced cognitive dysfunction.","authors":"Y. Liu, G. Q. Chen, B. Liu, Qinkai Chen, Y. Qian, S. Qin, Chenglong Liu, Changshui Xu","doi":"10.4238/gmr16019356","DOIUrl":"https://doi.org/10.4238/gmr16019356","url":null,"abstract":"To investigate the role of the P2X7 receptor in learning and memory dysfunction induced by HIV-1 envelope glycoprotein gp120 (gp120), we established HIV-1-associated dementia (HAD) animal models by intracerebroventricular (ICV) infusion of gp120 in rats. We observed gp120-induced cognitive dysfunction in the radial arm water maze test. Results showed that rats in the gp120 groups had longer escape latencies and more errors compared to those in the control group. For example, the average trial time in the 50-ng/day-gp120 group on day eight (16.57 ± 1.71 s, N = 90) was significantly longer than that of control rats (9.93 ± 0.68 s, N = 90). The relative expression of P2X7 mRNA in the control, 50-, 70-, and 100-ng/day-gp120 groups were 0.43 ± 0.06, 0.48 ± 0.07, 0.83 ± 0.05, and 0.84 ± 0.10, respectively; relative P2X7 protein expression in those groups was 0.63 ± 0.07, 1.08 ± 0.06, 0.90 ± 0.07, and 1.03 ± 0.11, respectively. According to immunohistochemistry analysis, the staining intensity values for P2X7 protein expression in the control, 50-, 70-, and 100-ng/d-gp120 groups were 0.88 ± 0.07, 1.41 ± 0.12, 1.28 ± 0.13, and 1.31 ± 0.10, respectively. The above results showed that the expression of P2X7 increased significantly in the hippocampus of gp120 rats compared to that of the control group. These results suggest that ICV infusion of gp120 can successfully mimic HAD in rats, and P2X7 may be involved in gp120-induced cognitive dysfunction. This could provide a theoretical foundation and potential drug target for research and treatment of ADC.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115990099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Inter-simple sequence repeats (ISSRs) were used to analyze the genetic diversity of 21 accessions obtained from four provinces in China, Shandong, Henan, Hebei, and Sichuan. A total of 272 scored bands were generated using the eight primers previously screened across 21 accessions, of which 267 were polymorphic (98.16%). Genetic similarity coefficients varied from 0.4816 to 0.9118, with an average of 0.6337. The UPGMA dendrogram grouped 21 accessions into two main clusters. Cluster A comprised four Lonicera macranthoides Hand. Mazz. accessions, of which J10 was found to be from Sichuan, and J17, J18, and J19 were found to be from Shandong. Cluster B comprised 17 Lonicera japonica Thumb. accessions, divided into the wild accession J16 and the other 16 cultivars. The results of the principal component analysis were comparable to the cluster analysis. Therefore, the ISSR markers could be effectively used to distinguish interspecific and intraspecific variations, which may facilitate identification of Lonicera japonica cultivars for planting, medicinal use, and germplasm conservation.
{"title":"Analysis of the genetic diversity of Lonicera japonica Thumb. using inter-simple sequence repeat markers.","authors":"H. He, D. Zhang, H. Qing, Y. Yang","doi":"10.4238/gmr16019338","DOIUrl":"https://doi.org/10.4238/gmr16019338","url":null,"abstract":"Inter-simple sequence repeats (ISSRs) were used to analyze the genetic diversity of 21 accessions obtained from four provinces in China, Shandong, Henan, Hebei, and Sichuan. A total of 272 scored bands were generated using the eight primers previously screened across 21 accessions, of which 267 were polymorphic (98.16%). Genetic similarity coefficients varied from 0.4816 to 0.9118, with an average of 0.6337. The UPGMA dendrogram grouped 21 accessions into two main clusters. Cluster A comprised four Lonicera macranthoides Hand. Mazz. accessions, of which J10 was found to be from Sichuan, and J17, J18, and J19 were found to be from Shandong. Cluster B comprised 17 Lonicera japonica Thumb. accessions, divided into the wild accession J16 and the other 16 cultivars. The results of the principal component analysis were comparable to the cluster analysis. Therefore, the ISSR markers could be effectively used to distinguish interspecific and intraspecific variations, which may facilitate identification of Lonicera japonica cultivars for planting, medicinal use, and germplasm conservation.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"114 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124074891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
F. G. Reis, I. P. Pinto, L. Minasi, A. V. Melo, D. Cunha, C. L. Ribeiro, C. C. da Silva, D. Silva, A. D. da Cruz
Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is often followed by reciprocal duplication. Variations in genomic copy number manifest differently, with duplication and deletions of the same genomic region showing opposite phenotypes. Sotos syndrome is caused by alterations in the dosage of NSD1 on human chromosome 5 by either deletions or mutations, such as microdeletion of 5q35.2q35.3. In general, patients carrying reciprocal microduplication at 5q35.2q35.3 present no clinical phenotype or milder phenotype than do patients with microdeletion at the same locus. We report the first case of 5q35.2q35.3 microduplication encompassing NSD1 in a patient from central Brazil. We identified a genomic imbalance corresponding to a de novo 0.45 Mb microduplication at 5q35.2q35.3 by chromosomal microarray analysis and study of low-copy repeats. The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay. Analysis of the genomic structure of the rearranged 5q35.2q35.3 chromosomal region revealed two major low-copy repeat families, which caused the recurrent rearrangements. Chromosomal microarray analysis is a potential tool to identify microrearrangements and guide medical diagnosis, which has to be followed by a non-directive genetic counseling approach to improve the quality of life of the patient.
{"title":"A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.","authors":"F. G. Reis, I. P. Pinto, L. Minasi, A. V. Melo, D. Cunha, C. L. Ribeiro, C. C. da Silva, D. Silva, A. D. da Cruz","doi":"10.4238/gmr16019197","DOIUrl":"https://doi.org/10.4238/gmr16019197","url":null,"abstract":"Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is often followed by reciprocal duplication. Variations in genomic copy number manifest differently, with duplication and deletions of the same genomic region showing opposite phenotypes. Sotos syndrome is caused by alterations in the dosage of NSD1 on human chromosome 5 by either deletions or mutations, such as microdeletion of 5q35.2q35.3. In general, patients carrying reciprocal microduplication at 5q35.2q35.3 present no clinical phenotype or milder phenotype than do patients with microdeletion at the same locus. We report the first case of 5q35.2q35.3 microduplication encompassing NSD1 in a patient from central Brazil. We identified a genomic imbalance corresponding to a de novo 0.45 Mb microduplication at 5q35.2q35.3 by chromosomal microarray analysis and study of low-copy repeats. The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay. Analysis of the genomic structure of the rearranged 5q35.2q35.3 chromosomal region revealed two major low-copy repeat families, which caused the recurrent rearrangements. Chromosomal microarray analysis is a potential tool to identify microrearrangements and guide medical diagnosis, which has to be followed by a non-directive genetic counseling approach to improve the quality of life of the patient.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"16 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130933810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carolina Vázquez, M. Orlova, P. Scibona, H. D. D. Arce, M. Pallotta, W. Belloso
Thymidylate synthase (TYMS) is a key enzyme in nucleotide synthesis and therefore, an important target of many chemotherapeutic agents. Expression of TYMS mRNA is thought to be modulated by a 28-bp tandem repeat polymorphism within its 5'-untranslated region, raising the question of this variant's utility in predicting the efficacy and toxicity of cancer treatment regimens. The aim of the present research was to describe the distribution of this TYMS polymorphism in the Argentinean population. A total of 199 randomly selected DNA samples from healthy volunteers were analyzed using polymerase chain reaction and polyacrylamide gel electrophoresis. The 2R and 3R alleles were present in 47.74 and 52.26% of samples, respectively, with frequencies of 21.6 (43), 52.3 (104), and 26.1% (52) recorded for the 2R/2R, 2R/3R, and 3R/3R genotypes, respectively. No significant difference regarding gender was observed. Our prevalence data are similar to those reported for other Caucasian populations. This opens a discussion concerning the reference population valid for comparisons and the clinical importance of this genotyping test as an additional tool in personalized medicine.
{"title":"Prevalence of thymidylate synthase gene 5'-untranslated region variants in an Argentinean sample.","authors":"Carolina Vázquez, M. Orlova, P. Scibona, H. D. D. Arce, M. Pallotta, W. Belloso","doi":"10.4238/gmr16019367","DOIUrl":"https://doi.org/10.4238/gmr16019367","url":null,"abstract":"Thymidylate synthase (TYMS) is a key enzyme in nucleotide synthesis and therefore, an important target of many chemotherapeutic agents. Expression of TYMS mRNA is thought to be modulated by a 28-bp tandem repeat polymorphism within its 5'-untranslated region, raising the question of this variant's utility in predicting the efficacy and toxicity of cancer treatment regimens. The aim of the present research was to describe the distribution of this TYMS polymorphism in the Argentinean population. A total of 199 randomly selected DNA samples from healthy volunteers were analyzed using polymerase chain reaction and polyacrylamide gel electrophoresis. The 2R and 3R alleles were present in 47.74 and 52.26% of samples, respectively, with frequencies of 21.6 (43), 52.3 (104), and 26.1% (52) recorded for the 2R/2R, 2R/3R, and 3R/3R genotypes, respectively. No significant difference regarding gender was observed. Our prevalence data are similar to those reported for other Caucasian populations. This opens a discussion concerning the reference population valid for comparisons and the clinical importance of this genotyping test as an additional tool in personalized medicine.","PeriodicalId":189314,"journal":{"name":"Genetics and molecular research : GMR","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2017-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132454031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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