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Mitochondrial DNA mutations-candidate biomarkers for breast cancer diagnosis in Bangladesh

Chinese Journal of Cancer 2012年第9期31卷 449-454页

作者： gazi nurun nahar sultana Atiqur Rahman Abu Din Ahmed Shahinuzzaman Rowshan Ara Begum Chowdhury Faiz Hossain Centre for Advanced Research in Sciences University of DhakaDhaka 1000Bangladesh Department of Microbiology University of DhakaDhaka 1000Bangladesh Department of Genetic Engineering and Biotechnology University of DhakaDhaka 1000Bangladesh National Cancer Research Institute and Hospital MohakhaliDhaka 1212Bangladesh East West University MohakhaliDhaka 1212Banglades

Breast cancer is a major health problem that affects more than 24% of women in Bangladesh. Furthermore, among low-income countries including Bangladesh, individuals have a high risk for developing breast cancer. This study aimed to identify candidate mitochondrial DNA (mtDNA) biomarkers for breast cancer diagnosis in Bangladeshi women to be used as a preventive approach. We screened the blood samples from 24 breast cancer patients and 20 healthy controls to detect polymorphisms in the D-loop and the ND3-and ND4-coding regions of mtDNA by direct sequencing. Among 14 distinct mutations, 10 polymorphisms were found in the D-loop, 3 were found in the ND3-coding region, and 1 was found in the ND4-coding region. The frequency of two novel polymorphisms in the D-loop, one at position 16290 (Tins) and the other at position 16293 (A-del), was higher in breast cancer patients than in control subjects (position 16290: odds ratio = 6.011, 95% confidence interval = 1.2482 to 28.8411, P = 0.002; position 16293: odds ratio = 5.6028, 95% confidence interval = 1.4357 to 21.8925, P = 0.010). We also observed one novel mutation in the ND3-coding region at position 10316 (A > G) in 69% of breast cancer patients but not in control subjects. The study suggests that two novel polymorphisms in the D-loop may be candidate biomarkers for breast

关键词：线粒体DNA突变生物标志物孟加拉国乳腺癌诊断基因编码区基因多态性 D-loop区

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Mitochondrial DNA Control Region Variation from Bangladesh: Sequence Analysis for the Establishment of a Forensic Database

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Forensic Medicine and Anatomy Research 2014年第4期2卷 95-100页

作者： gazi nurun nahar sultana Jannatul Ferdoush Tuli Rokeya Begum Rakesh Tamang Centre for Advanced Research in Sciences University of Dhaka Dhaka Bangladesh Department of Genetic Engineering and Biotechnology University of Dhaka Dhaka Bangladesh University of Kolkata Kolkata India

Mitochondrial DNA sequences of the entire control region and three coding regions were analyzed in 108 unrelated individuals from three regions of Bangladesh. Sequence evaluation was performed with validated primers and combined sequence comparison led to the identification of 14 different haplotypes characterized by 37 variable polymorphic sites. The Bangladeshi sequences exhibited high variations and low random match probability, indicating for forensic application. The mean pairwise difference between individual was 9.698 ± 1.8658 nucleotides (95% CI 9.67 - 9.69), compared to a mean pairwise difference of 9.890 ± 4.189 nucleotides reported from Northeast Asia and suggested significant differences in the mtDNA composition of the various populations. The sequence diversity of 108 Bangladeshi Bengali samples (n = 216 chromosomes) was estimated to be 0.8475 ± 0.13406. This study first time reports that the comparison of closely related mtDNA sequences can be very useful for improving mtDNA database quality, as well as provide haplotype information for forensic study in mainstream population of Bangladesh.

关键词： Forensic Database Mainstream Population mtDNA Control Region Coding Region Haplotype Bangladesh

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