Ud Din Aziz, Ul Ghafoor Sajid, Akbar Fazal, Akhtar Naveed, Fiaz Khan Muhammad, Ullah Zaib, Kareem Abdul
Department of Genetics, Hazara University, Mansehra, Pakistan.
Centre for Biotechnology and Microbiology, University of Swat, Pakistan.
Saudi J Biol Sci. 2022 Jan;29(1):436-443. doi: 10.1016/j.sjbs.2021.09.010. Epub 2021 Sep 13.
Cardiovascular diseases (CVD) are the leading cause of death all over the world. Beside general risk factors, there are some genetic factors which lead to cardiovascular diseases. Various nuclear DNA mutation and also mitochondrial DNA mutations have been related with cardiovascular diseases. In the present study, a total of 21 samples were collected from different families residing in district Dir. DNA was extracted from buccal epithelial cells using saliva. The mitochondrial tRNA leu (MT TL1) gene was amplified by PCR and 10 samples of different families were sequenced. The sequence was aligned with revised Cambridge Reference Sequence (rCRS) accession # NC-012920.1. It is concluded that cardiovascular diseases in our subjects are not due to mutation in the mitochondrial leucine tRNA gene. However, a large population of subjects with cardiovascular diseases needs to be studied and whole mitochondrial DNA is needed to be sequenced in the subjects with CVD. This will give an idea about the probable DNA marker which can be used to prevent loses due to these diseases at a very early stages.
心血管疾病（CVD）是全球首要的死亡原因。除了一般风险因素外，还有一些导致心血管疾病的遗传因素。各种核DNA突变以及线粒体DNA突变都与心血管疾病有关。在本研究中，从居住在迪尔地区的不同家庭共收集了21个样本。使用唾液从颊上皮细胞中提取DNA。通过PCR扩增线粒体tRNA亮氨酸（MT TL1）基因，并对10个不同家庭的样本进行测序。该序列与修订的剑桥参考序列（rCRS）登录号NC-012920.1进行比对。得出的结论是，我们研究对象中的心血管疾病并非由线粒体亮氨酸tRNA基因突变所致。然而，需要对大量患有心血管疾病的对象进行研究，并且需要对患有CVD的对象的整个线粒体DNA进行测序。这将有助于了解可能的DNA标记物，这些标记物可用于在非常早期阶段预防因这些疾病造成的损失。
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