Pub Date : 2020-02-20DOI: 10.31901/24566330.2020/20.01.747
R. Jelassi
{"title":"High-resolution Melting to Identify Single Nucleotide Polymorphisms of IL-12 Receptor B Gene (IL-12RB1) in the Tunisian Population","authors":"R. Jelassi","doi":"10.31901/24566330.2020/20.01.747","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.747","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47807687","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}
Pub Date : 2020-02-20DOI: 10.31901/24566330.2020/20.01.748
Onyia Oby Christie
{"title":"Evolutionary Relationship of Four Major Ethnic Populations in Nigeria Based on Alu PV92 Insertion Polymorphism","authors":"Onyia Oby Christie","doi":"10.31901/24566330.2020/20.01.748","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.748","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42867091","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}
Pub Date : 2020-02-20DOI: 10.31901/24566330.2020/20.02.738
N. Ramachandra
{"title":"Nuclear Co-repressor 1: A Potential Candidate Gene in the Manifestation of Congenital Heart Diseases","authors":"N. Ramachandra","doi":"10.31901/24566330.2020/20.02.738","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.02.738","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48694152","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}
Pub Date : 2020-02-02DOI: 10.31901/24566330.2020/20.01.743
Cayci Gulhan
{"title":"Effects of FSHR Gene Variants on Ovarian Response","authors":"Cayci Gulhan","doi":"10.31901/24566330.2020/20.01.743","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.743","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47805371","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}
Pub Date : 2020-01-02DOI: 10.31901/24566330.2020/20.01.746
Z. Yeğin
{"title":"Thymoquinone Down-regulates VEGFA and Up-regulates FLT1 Transcriptional Levels in Human Breast Cancer Cells","authors":"Z. Yeğin","doi":"10.31901/24566330.2020/20.01.746","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.746","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43355236","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}
Pub Date : 2020-01-02DOI: 10.31901/24566330.2020/20.01.741
H. Cao
Cardiovascular diseases (CVD) are worldwide threat to human health, resulting in the highest mortality among all causes of death. The effect of therapeutic medicines for CVD varies greatly among people because of their different genetic background. In order to evaluate the necessity of having genetic testing before taking medicines in CVD patients, 19 SNPs influencing the metabolism of frequently-used anti-CVD drugs were selected and detected in 237 CVD patients by PCR-LDR method. The results showed that the genotypic distribution of most SNPs met the Hardy–Weinberg principle. The allelic distribution of the SNPs in the tested samples was similar to that in Chinese population. 78 percent of these patients carried at least one allele that affected the efficacy of the medicines. The accuracy of the PCR-LDR detection for the clinical samples was comparable to that of Sanger sequencing, and with higher multiplexity and lower cost.
{"title":"Detection of the Polymorphism of 19 SNPs Associated with the Metabolism of Anti-CVD Drugs by Multiplex PCR-LDR in CVD Patients","authors":"H. Cao","doi":"10.31901/24566330.2020/20.01.741","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.741","url":null,"abstract":"Cardiovascular diseases (CVD) are worldwide threat to human health, resulting in the highest mortality among all causes of death. The effect of therapeutic medicines for CVD varies greatly among people because of their different genetic background. In order to evaluate the necessity of having genetic testing before taking medicines in CVD patients, 19 SNPs influencing the metabolism of frequently-used anti-CVD drugs were selected and detected in 237 CVD patients by PCR-LDR method. The results showed that the genotypic distribution of most SNPs met the Hardy–Weinberg principle. The allelic distribution of the SNPs in the tested samples was similar to that in Chinese population. 78 percent of these patients carried at least one allele that affected the efficacy of the medicines. The accuracy of the PCR-LDR detection for the clinical samples was comparable to that of Sanger sequencing, and with higher multiplexity and lower cost.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49222196","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}
Pub Date : 2020-01-01DOI: 10.31901/24566330.2020/20.01.745
F. Ozen
{"title":"Evaluation of CDH1 Promoter Methylation and HPV Infection Status in the Development of Parotid Pleomorphic Adenoma","authors":"F. Ozen","doi":"10.31901/24566330.2020/20.01.745","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.745","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69785108","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}
Pub Date : 2019-10-08DOI: 10.31901/24566330.2019/19.04.740
S. Bakshi
{"title":"Cytogenetics of Recurrent Spontaneous Abortions: A Study of 250 Products of Conception","authors":"S. Bakshi","doi":"10.31901/24566330.2019/19.04.740","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.740","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42115552","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}
Pub Date : 2019-10-08DOI: 10.31901/24566330.2019/19.04.02
Anushka Shrivastava
{"title":"Cytogenetics of Recurrent Spontaneous Abortions: A Study of 250 Products of Conception","authors":"Anushka Shrivastava","doi":"10.31901/24566330.2019/19.04.02","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.02","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48600578","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}
Pub Date : 2019-10-08DOI: 10.31901/24566330.2019/19.04.742
F. Ullah
{"title":"Mutational Analysis of TYR Gene Causing Oculocutaneous Albinism in Families from District Peshawar","authors":"F. Ullah","doi":"10.31901/24566330.2019/19.04.742","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.742","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47843347","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}
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