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Upendra Yadav Pradeep Kumar Vandana Rai 《Indian journal of clinical biochemistry : IJCB》2021,36(1):23
Methionine synthase reductase (MTRR) is an important enzyme of the folate/homocysteine pathway. It is responsible for regulation of methionine enzyme by reductive methylation. A common variant A66G is reported in the FMN-binding domain of the MTRR gene, which leads to substitution of isoleucine by methionine (I22M) in MTRR enzyme with reduced activity. Reduced catalytic activity of enzyme leads to high homocysteine concentration in blood and increases risk for numerous diseases. The frequency of A66G polymorphism varies in different ethnic groups. The present study has been designed to evaluate the frequency of MTRR A66G gene polymorphism in the Eastern UP population by PCR–RFLP method. Along with this we also performed a meta-analysis to evaluate the global prevalence of this polymorphism. Databases were screened to identified the eligible studies. The prevalence of the G allele and GG genotype was determined by the use of prevalence proportion with 95% CI. Open meta-analyst software was used for the meta-analysis. Total 1000 blood samples were analyzed, the frequencies of A and G alleles were 0.35 and 0.65 respectively. Meta-analysis results revealed that the prevalence of G allele and GG genotype were 49.4% (95% CI 40.6–58.1, p ≤ 0.001) and 24.3% (95% CI 17.8–30.9, p ≤ 0.001) respectively. In sub-group meta-analysis, the lowest frequency of G allele was found in South America (32.7%; 95% CI 14.1–51.3, p ≤ 0.001), and highest in Asia (56.4%; 95% CI 39.5–73.3, p ≤ 0.001). The results of the meta-analysis showed that the Asian population has the highest frequency of G allele and highest frequency of the GG genotype was found in the European population. 相似文献
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Alex Livy Sayhean Lye Chahil K. Jagdish Nurul Hanis Velapasamy Sharmila Lian Wee Ler Bagali Pramod 《Indian journal of clinical biochemistry : IJCB》2012,27(1):28-33
Buccal cell usage has been shown by many to be a cost effective and safe method to isolate DNA for various biological experiments
especially large epidemiological studies (Garcia-Closas et al. Cancer Epidemiol Biomarkers Prev 10:687–696, 2001). Non-invasive DNA collection methods are preferred over phlebotomy in order to increase study participation and compliance
in research centers and for sick patients in hospital settings. There have been conflicting reports about the methodology
and results obtained from using buccal DNA. It is not very clear if phlebotomy can be confidently replaced by buccal cell
DNA. It is often left for the user to take an intelligent decision. To address this issue, we compared the performance of
buccal and blood DNA from same subjects in a genotyping experiment and this paper reports the results. Cotton swab derived
buccal cells were scraped from the inner side of cheeks from 16 subjects, and blood was also drawn from the same 16 subjects
participating in a genotypic association study of a lipid disease. The DNA quality was assessed by resolving on agarose gels,
checking purity (A260/A280) and finally by microarray hybridization. This study showed that DNA degradation affects the total
yield and performance of the buccal DNA when compared to the blood DNA in microarray based genotyping. Genotyping results
can be seriously compromised if care is not taken to check the quality and yields of such specimens. 相似文献
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目的 用基因芯片对胎儿卵巢组织和成人卵巢组织进行HLA-DRB1分型,对于进一步了解胎儿卵巢基因型及其档案的建立进行了初步探索.方法 将6份胎儿卵巢组织分别与育龄妇女及绝经后妇女卵巢组织的基因组DNA,通过组间特异引物不对称扩增,扩增中同时用荧光素Cy3标记.扩增标记后的产物与结合在HLA-DRB1基因分型芯片上的探针进行杂交,通过荧江扫描仪对杂交产生的荧光信号值进行分析,确定样品的HLA-DRB1基因型.结果 18例卵巢组织样本中,纯合子只有1例,其余均为杂合子.其中两例胎儿卵巢组织的HLA-DRB1型别分别与一例育龄妇女卵巢组织及一例绝经后妇女卵巢组织相吻合.芯片重复率为100%.结论 基因芯片是一种理想的分型方法,具有特异性高、重复性好、操作简便、所需时间少、结果判读容易、一次可作多份样本的优点.通过这种技术对胎儿卵巢HLA-DRB1进行快速分型,可为卵巢移植手术的供受体选择节约了时间和成本,并可进一步建立胎儿卵巢组织的基因型档案,为卵巢移植工作开展奠定基础. 相似文献
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呼吸道感染铜绿假单胞菌RAPD分型与抗生素耐药谱分型比较研究 总被引：1，自引：0，他引：1
目的：调查张家口地区呼吸道感染铜绿假单胞菌的分子流行病学情况，为临床防治提供依据。方法：用随机扩增DNA多态性分析技术对31株铜绿假单胞菌进行分型，并与抗生素耐药谱分型比较。结果：31株铜绿假单胞菌RAPD分型共有9种不同的基因型，其中基因A型17株，占54．8％。抗生素耐药谱分型有6型。结论：基因A型为优势菌株，且为多重耐药，是这一年来张家口地区呼吸遭感染的相关菌株，RAPD分型在医院呼吸道感染铜绿假单胞菌流行病学的研究中有较大应用价值。 相似文献
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