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多囊卵巢综合征基因组不稳定性评估的多参数方法

Multi-Parameter Approach for Evaluation of Genomic Instability in the Polycystic Ovary Syndrome.

作者信息

Sekar Nishu, Nair Manju, Francis Glory, Kongath Parvathy Raj, Babu Sandhya, Raja Sudhakaran, Gopalakrishnan Abilash Valsala

机构信息

Division of Biomolecules and Genetics, School of Biosciences and Technology, VIT University, Vellore, Tamilnadu, India E-mail :

出版信息

Asian Pac J Cancer Prev. 2015;16(16):7129-38. doi: 10.7314/apjcp.2015.16.16.7129.

DOI:10.7314/apjcp.2015.16.16.7129
PMID:26514501
Abstract

BACKGROUND

The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause.

MATERIALS AND METHODS

In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls.

RESULTS

In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value (45.9°) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls.

CONCLUSIONS

From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

摘要

背景

多囊卵巢综合征(PCOS)以高雄激素血症和慢性无排卵为特征,是女性常见的内分泌紊乱疾病。PCOS与多囊卵巢、多毛症、肥胖和胰岛素抵抗相关,是女性不孕的主要原因。在这种情况下,女性性激素失衡。PCOS的所有后遗症症状随着时间的推移会逐渐导致癌症。它是一种病因不明的异质性疾病,因此找到确切病因至关重要。

材料与方法

在本研究中,采用了侵入性和非侵入性技术来确定病因。诊断基于鹿特丹标准(高雄激素血症、排卵功能障碍、多囊卵巢形态),并对10例患者和4例年龄及性别匹配的对照者使用颊部样本、皮纹分析和细胞遗传学研究进行多参数分析。

结果

在临床分析中,我们观察到总睾酮水平的平均值为23.6nmol/L,总多毛症评分为12 - 24分,70%的患者有面部痤疮,有7 - 12个包膜下卵泡囊肿,每个直径为2 - 8mm。在皮纹分析中,我们观察到与对照组相比,轴三角(ATD)角的平均值增加(45.9°),并且在PCOS患者中观察到双手尺侧箕形纹(UU)的频率增加(38%),右手箕形纹和左手尺侧箕形纹(WU)的频率增加(18%),双手弓形纹(AA)的频率增加(16%)。可作为PCOS患者标志物的特征是左右手的中指和小指存在尺侧箕形纹。在脱落的颊细胞中进行颊部微核细胞分析法,我们发现多囊卵巢综合征患者的微核频率降低,核溶解核的频率显著增加。染色体畸变分析显示,与对照组相比,PCOS患者的染色体畸变(CAs)频率显著增加。

结论

从目前的研究工作可以得出结论,皮纹分析和脱落颊细胞的颊部微核细胞分析法等非侵入性技术,连同淋巴细胞中增加的染色体畸变作为遗传不稳定的标志一样,也可以成为PCOS的有效生物标志物。有一种假设认为微核和染色体畸变可能对癌症具有预测价值。从目前的研究工作在一定程度上可以得出结论,皮纹学和颊细胞分析等非侵入性技术也可有效用于诊断。

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