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International Journal of Human Genetics最新文献

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Distribution of Human-specific Alu InDel Polymorphisms in the Brahmin and Rajput Populations of Kangra District of Himachal Pradesh, North India 印度北部喜马偕尔邦康格拉地区婆罗门和拉杰普特人群中人类特异性Alu InDel多态性分布
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-08-05 DOI: 10.31901/24566330.2021/21.03.784
S. Chahal
{"title":"Distribution of Human-specific Alu InDel Polymorphisms in the Brahmin and Rajput Populations of Kangra District of Himachal Pradesh, North India","authors":"S. Chahal","doi":"10.31901/24566330.2021/21.03.784","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.03.784","url":null,"abstract":"ABSTRACT The genetic constitution of two endogamous caste populations viz., the Brahmin (n=250) and Rajput (n=250) of Kangra district of the North Indian state of Himachal Pradesh was studied using six autosomal Alu InDel (insertion/deletion) markers viz., ACE, APO, PV92, CD4, PLAT, and TPA25 All markers were found to be polymorphic. Except for Alu APO and PV92 in the Rajput, genotype frequencies of other markers were in the Hardy-Weinberg equilibrium in both the populations. The average heterozygosity (H) was observed higher in the Brahmin (0.4134) compared to the Rajput (0.3809) and the degree of genic differentiation was low between them (GST =0.00898). The genetic distance analysis revealed close genetic affinities of the present Rajput population with the Gaddi Rajput and Gaddi Brahmin populations reported earlier from the district but the present Brahmin population was found distant from them.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48963844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan 巴基斯坦奎达地区女性CYP19A1基因SNP rs700519与多囊卵巢综合征(PCOS)的关系
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-08-03 DOI: 10.31901/24566330.2021/21.02.782
Rozeena Shaikh
{"title":"Association of SNP rs700519 in CYP19A1 Gene with Polycystic Ovary Syndrome (PCOS) Among Females of Quetta, Pakistan","authors":"Rozeena Shaikh","doi":"10.31901/24566330.2021/21.02.782","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.02.782","url":null,"abstract":"ABSTRACT Polycystic Ovary Syndrome (PCOS) is endocrine reproductive disorder which causes oligomenorrhea/ amenorrhea, infertility, type II diabetes. The present study aims in CYP19A1 polymorphism rs700519 (C/T) identification that elevates androgen among PCOS females in Quetta, Pakistan. Cross-sectional study involved enrollment of 100 control and 100 affected females. Blood samples were collected for genetic and hormonal analysis. The samples were amplified via ARMS PCR and analyzed by sequencing. The frequency of CC genotype in control and PCOS group was 48 percent and 33 percent. For CT, it was 52 percent and 67 percent. In control group, the allele frequency for C and T was 0.74 and 0.26. In PCOS group, it was 0.67 and 0.33 for C and T, respectively. The Pearson Chi-Square p=0.031 (p<0.05) at 95% Confidence Interval inferred a significant difference between the observed genotypes. The study inferred that CT genotype is a risk factor for PCOS progression in the population of Quetta.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43858031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Investigation of SP1 and SP3 Expressions in Colorectal Cancer Carcinogenesis SP1和SP3在大肠癌癌症发生中的表达研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-07-25 DOI: 10.31901/24566330.2021/21.03.777
T. Gurer
{"title":"Investigation of SP1 and SP3 Expressions in Colorectal Cancer Carcinogenesis","authors":"T. Gurer","doi":"10.31901/24566330.2021/21.03.777","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.03.777","url":null,"abstract":"ABSTRACT The study aimed to determine the expressions of SP1 and SP3 and the clinic pathological characteristics of patients, and the correlation between the expressions of SP1 and SP3 in colorectal cancer (CRC). In this study, tumour and adjacent non-tumour tissue samples were obtained from 41 individuals with CRC. SP1 and SP3 expressions were performed using Quantitative Real-Time Polymerase Chain Reaction (RT-qPCR). According to the results of our study, there was no statistically significant difference in SP1 and SP3 expression levels between tumour tissues and non-tumour tissues (p>0.05), as well as no association with clinic pathological features of patients. In addition, a high positive correlation was found between the expressions of SP1 and SP3 genes in CRC (p=0.01). Consequently, it can be said that there is a correlation between SP1 and SP3 expressions, but SP1 and SP3 expressions are not related to CRC carcinogenesis.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45038643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Plasma CircRNAs for First Trimester Prediction of Preeclampsia and Potential Biomarkers 血浆环状rna用于妊娠早期子痫前期预测和潜在的生物标志物
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-07-15 DOI: 10.31901/24566330.2021/21.03.788
Jie Lu
{"title":"Plasma CircRNAs for First Trimester Prediction of Preeclampsia and Potential Biomarkers","authors":"Jie Lu","doi":"10.31901/24566330.2021/21.03.788","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.03.788","url":null,"abstract":"ABSTRACT This study investigated expression profiles and mechanisms of circular RNAs on preeclampsia patients between 7-14 weeks. RNA sequencing demonstrated 12,579 circRNAs (7,684 upregulated and 4,895 downregulated) expressed differentially in 8 pairs of plasma samples from preeclampsia patients and healthy controls. Predicted 15 upregulated and 9 downregulated circRNAs then were assessed through qRT-PCR in 50 preeclampsia patients and 30 controls. Differentially expressed circRNAs in preeclampsia patients and controls were analyzed by RNA sequencing and gene ontology, Kyoto Encyclopedia of Genes and Genomes and circRNA-miRNA-mRNA network analyzed data. Hsa_circ_0046677 and hsa_circ_0029703 were markedly increased in preeclampsia patients. Receiver operator characteristic curve analysis indicated the area under the curve was 0.083 for hsa_circ_0046677 and 0.965 for hsa_circ_00429703 while the sensitivity and specificity of these two genes were 78 percent, 88 percent and 83 percent, 93 percent, respectively. Hsa_circ_0046677 and hsa_circ_00429703 had enormous potentials for diagnosing preeclampsia of pregnant women in the first trimester.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46328855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigation and Prevalence of Hepatitis C Virus Genotypes in Pregnant Women 孕妇丙型肝炎病毒基因型的调查与流行
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-06-08 DOI: 10.31901/24566330.2021/21.02.781
Muhamad Asif
{"title":"Investigation and Prevalence of Hepatitis C Virus Genotypes in Pregnant Women","authors":"Muhamad Asif","doi":"10.31901/24566330.2021/21.02.781","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.02.781","url":null,"abstract":"ABSTRACT Hepatitis C virus (HCV) causes severe liver infection and is spread through blood transmission from infected person to healthy individuals. HCV is more common in less developed countries due to poor hygienic conditions. This condition can be worse in pregnant women, where HCV can infect the fetus and may lead to chronic infections and may cause cirrhosis and carcinoma. Therefore, the purpose of this research was to study the distribution and prevalence of HCV in pregnant women in the Pakistani population, where such data are unavailable. Blood from 72 HCV-positive pregnant women was collected, RNA was extracted and nested PCR was performed for genotyping using genotypespecific primers. The most frequent genotype was found to be 3a (79%), followed by 3b (4%), 1a (4%), 1b (2%) and mixed genotypes (2%). The severity of HCV, reaction to therapy, and prognosis depend on several factors and one of the most important factors is genotype. Hence, this study will pave the way for the adoption of efficient therapeutic models to control HCV in high-risk populations.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43923668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlations of Serum MMP-9, TIMP-1, TGF-β and bFGF Levels with Atrial Fibrillation in Patients without Structural Heart Disease 非结构性心脏病患者血清MMP-9、TIMP-1、TGF-β和bFGF水平与心房颤动的相关性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-06-03 DOI: 10.31901/245666330.2021/21.02.774
Xinchun Yang
{"title":"Correlations of Serum MMP-9, TIMP-1, TGF-β and bFGF Levels with Atrial Fibrillation in Patients without Structural Heart Disease","authors":"Xinchun Yang","doi":"10.31901/245666330.2021/21.02.774","DOIUrl":"https://doi.org/10.31901/245666330.2021/21.02.774","url":null,"abstract":"ABSTRACT The researchers aimed in highlighting the correlations of serum MMP-9, TIMP-1, TGF-β1 and bFGF levels with atrial fibrillation (AF) within diseased persons showing no structural heart ailment. A total of 236 eligible diseased persons had been categorized within AF category (n=168) and non-AF category (n=68). Left atrial diameter (LAD), left ventricular end-diastolic dimension (LVEDD) and left ventricular ejection fraction (LVEF) had been measured through cardiac ultrasonography. Comparing concerning non-AF category, AF class had larger LAD and smaller LVEF (P<0.01). MMP-9 and TGF-β1 levels had been higher while TIMP-1 level remained less within AF class as compared to non-AF class (P<0.01). Age, LVEF and left atrial MMP-9/TIMP-1 remained free correlative factors of AF (P<0.01). MMP-9/TIMP-1 remained definitely correlated concerning LAD within AF class (r=0.509, P<0.01). Left atrial MMP-9/TIMP-1 remained higher within diseased persons regarding persistent AF (P<0.01). Left atrial MMP-9/TIMP-1 is correlated with AF within diseased persons having no structural heart ailment, particularly in the case of persistent AF.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49352454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Heterozygous Missense Mutation in COL7A1 Gene in Dystrophic Epidermolysis Bullosa 营养不良大疱性表皮松解症COL7A1基因杂合错义突变
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-05-05 DOI: 10.31901/24566330.2021/21.03.780
Rozeena Shaikh
{"title":"A Novel Heterozygous Missense Mutation in COL7A1 Gene in Dystrophic Epidermolysis Bullosa","authors":"Rozeena Shaikh","doi":"10.31901/24566330.2021/21.03.780","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.03.780","url":null,"abstract":"ABSTRACT Hereditary Epidermolysis Bullosa is categorized by blister formation on the skin which includes Dystrophic Epidermolysis Bullosa as one of its types. It is characterized by blister formation on hands, feet, knees, and elbows. The severe condition leads to vision loss and blemishes. The objectives included the identification of COL7A1 gene mutation for DEB susceptibility through sequence analysis of hot spot regions of 73, 74 and 75 exons. The experimental design included the enrolment of DEB-affected two families. The genetic analysis techniques included inorganic DNA extraction, Polymerase Chain Reaction and Sanger sequencing method. The study inferred the identification of novel missense mutation in exon 75 of COL7A1 gene at (c. 6223 G>T) where the aspartic acid is converted into tyrosine in the heterozygous condition in affected families. The recognized novel missense mutation is silent (heterozygous) which becomes severe when homozygous. However, whole-exome sequencing strategy may identify the causative mutations.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48532299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MiR-34a/SIRT1 Axis Modulating Therapeutic Effect of Olaparib on Pancreatic Cancer through Suppressing PARP1 and EMT MiR-34a/SIRT1轴通过抑制PARP1和EMT调节奥拉帕尼对癌症的治疗作用
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-05-03 DOI: 10.31901/24566330.2021/21.02.775
Linxun Liu
{"title":"MiR-34a/SIRT1 Axis Modulating Therapeutic Effect of Olaparib on Pancreatic Cancer through Suppressing PARP1 and EMT","authors":"Linxun Liu","doi":"10.31901/24566330.2021/21.02.775","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.02.775","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47597430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitofusin 2 Expression in Placental Tissues of Preeclamptic Patients and Its Correlations with Trophoblast Invasion and Placental Hypoxia 线粒体融合蛋白2在子痫前期患者胎盘组织中的表达及其与滋养细胞侵袭和胎盘缺氧的关系
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-03-20 DOI: 10.31901/245666330.2021/21-01.773
Xiaoyan Wang
{"title":"Mitofusin 2 Expression in Placental Tissues of Preeclamptic Patients and Its Correlations with Trophoblast Invasion and Placental Hypoxia","authors":"Xiaoyan Wang","doi":"10.31901/245666330.2021/21-01.773","DOIUrl":"https://doi.org/10.31901/245666330.2021/21-01.773","url":null,"abstract":"The researcher aimed to detect mitofusin 2 (Mfn2) expression in the placental tissues of preeclampsia (PE) patients and correlations with trophoblast invasion and placental hypoxia. Mfn2 mRNA expressions in placental tissues from PE and healthy pregnant women were detected by qRT-PCR. Trophoblast cells JEG-3 were transfected with small-interfering RNA-Mfn2 (si-Mfn2). Proliferation was tested by CCK-8 and colony formation assays. Invasion and migration were determined with Transwell assay. Mfn2, HIF-1á, HPH-1 and leptin protein expressions were detected by Western blotting. Mfn2 protein had strong positive and weak negative expressions in normal and PE women, respectively. Mfn2 mRNA expression in PE women was lower than that in normal women (P<0.05). Compared with control and si- NC groups, si-Mfn2 group had lower proliferation, migration and invasion abilities, as well as HIF-1á, HPH-1 and leptin expressions (P<0.05). Mfn2 expression in the placental tissues of PE women obviously decreases, which inhibits trophoblast invasion and triggers placental hypoxia.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48707120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of MMP-9 and PCNA Protein Expression in Osteosarcoma are Associated with Clinical Stage, Metastasis, and Prognosis 骨肉瘤中MMP-9和PCNA蛋白表达与临床分期、转移和预后的关系
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2021-02-15 DOI: 10.31901/24566330.2021/21.01.772
Bo Zhao
{"title":"Association of MMP-9 and PCNA Protein Expression in Osteosarcoma are Associated with Clinical Stage, Metastasis, and Prognosis","authors":"Bo Zhao","doi":"10.31901/24566330.2021/21.01.772","DOIUrl":"https://doi.org/10.31901/24566330.2021/21.01.772","url":null,"abstract":"ABSTRACT Present work studies the expressions of MMP-9 and PCNA in osteosarcoma patients and its correlation with clinical stage. 53 specimens of osteosarcoma were surgically removed and 28 osteochondroma tissues were used for immunohistochemical staining to detect the expression of proliferating cell nuclear antigen (PCNA) as well as matrix metalloproteinase-9 (MMP-9). The expression rates of MMP-9, as well as PCNA, were 75.5 percent and 86.8 percent in osteosarcoma, while were 10.7 percent and 7.5 percent in osteochondroma, respectively, which was statistically significant (P<0.05). The expression levels of MMP-9, PCNA, and the total survival time were connected with the Enneking stage. It shows an upward trend for the expression levels of PCNA and MMP- 9 in osteosarcoma tissues. The expression levels of MMP-9 and PCNA are related to the clinical stage, metastasis, and prognosis.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2021-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49342851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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