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首页> 外文期刊>Cytology and genetics >Mitochondrial DNA Mutations and ND1 Gene Copy Number in Patients with Polycystic Ovary Syndrome (PCOS)
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Mitochondrial DNA Mutations and ND1 Gene Copy Number in Patients with Polycystic Ovary Syndrome (PCOS)

机译：多囊卵巢综合征（PCOS）患者的线粒体DNA突变和ND1基因拷贝数

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Present study analyze the possible mutations in mitochondrial encoded genes TRNL1 and ND1, the association of mtDNA copy number in PCOS women with and without diabetic mothers was evaluated. Blood samples were collected from all the individual participants of study and detailed anthropometric and demographic variables were collected. Sequence of each amplified product of RNA gene TRNL1 was analyzed in comparison with the updated Cambridge Sequence. The PCR amplified products of ND1 were digested using Hae III and TaqI and were run in electrophoresis in 4% agarose gel electrophoresis. Relative quantification of mtDNA was compared with unique nuclear encoded gene based on the ratio of mtDNA to unique nuclear encoded gene using Real Time PCR. The group was effectively and closely similar for age and BMI. Aged varied between 24-25 years and 50-51 years for daughters and mother respectively. Results identified a five different type of mutation in study sample, among which only one was seen in non PCOS group, rest other four were found in both daughters and mother of PCOS group. All these nucleotide point mutation were verified by sequence analysis of both strands and appeared to be heteroplasmy Of the 36 PCOS samples analyzed one sample showed the G3316A mutation in the homoplasmy state. Nonsynonymous mutation leads to amino acid change from Alanine to Threonine. Analysis of the copy number in mothers revealed that mothers of PCOS women too had less copy number when compared to the mothers of Non-PCOS. Mtcopy number was significantly reduced in PCOS women with diabetic mother when compared to the PCOS women with non-diabetic mother and also the Mtcopy number was less in PCOS women of non-diabetic mother with diabetic family history. Though evidence is not confirmatory to say that PCOS is a phenotypic feature of MIDs. This study on mtDNA variants reported with small number of sample in association with PCOS by a single centre can be justified with more number of samples in multicentre studies. To explore more of hereditary PCOS, whole exome (genome) sequencing is suggested.
机译：目前的研究分析了线粒体编码基因TRNL1和ND1中可能的突变，评价了PCOS妇女的MTDNA拷贝数与糖尿病患者的关联。从研究的所有个人参与者收集血样，并收集了详细的人类测量和人口变量。与更新的剑桥序列相比，分析了RNA基因TrN11的每个扩增产物的序列。使用Hae III和Taqi消化了ND1的PCR扩增产物，并在4％琼脂糖凝胶电泳中进行电泳。将MTDNA的相对定量与基于使用实时PCR的MTDNA与独特核编码基因的独特核编码基因进行比较。该小组有效，与年龄和BMI相似。老年人在24-25岁之间变化，分别为女儿和母亲50-51岁。结果确定了五种不同类型的研究样本中的突变，其中在非PCOS组中只看到一个，在PCOS组的两个女儿和母亲中发现了其他四种。通过两条链的序列分析验证所有这些核苷酸点突变，并且似乎是分析的36个PCOS样品的异质性，分析了一个样品在同型状态下显示G3316A突变。非纯突变导致氨基酸从丙氨酸转变为苏氨酸。母亲中副本数量的分析显示，与非PCOS的母亲相比，PCOS女性的母亲也有较少的拷贝数。与糖尿病母亲的PCOS妇女在与非糖尿病母亲的PCOS女性相比时，MTCopy数量显着降低，并且在非糖尿病母亲的PCOS女性中，MTCopy数量减少了糖尿病家族史。虽然证据不是肯定的，但是PCOS是Mids的表型特征。本研究与单一中心与PCOS相关联的少量样品报告的MTDNA变体可以用更多的多元研究中的样本是合理的。为了探索更多的遗传性PCOS，提出了全外的（基因组）测序。

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  • 来源
    《Cytology and genetics》 |2020年第3期|264-270|共7页
  • 作者

    Inthu M.; Paul Solomen F. D.; Palanippan N.; Kumarasamy;

  • 作者单位

    Sri Ramachandra Inst Higher Educ & Res Deemed Be Dept Obstet & Gynecol Chennai Tamil Nadu India;

    Sri Ramachandra Inst Higher Educ & Res Deemed Be Dept Human Genet Chennai Tamil Nadu India;

    Sri Ramachandra Inst Higher Educ & Res Deemed Be Dept Obstet & Gynecol Chennai Tamil Nadu India;

    Tamil Nadu Vet & Anim Sci Univ Madras Vet Coll Dept Bioinformat Ctr Chennai Tamil Nadu India|Tamil Nadu Vet & Anim Sci Univ Madras Vet Coll ARIS Cell Chennai Tamil Nadu India;

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