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首页> 外文期刊>Molecular cytogenetics >Investigating the role of X chromosome breakpoints in premature ovarian failure
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Investigating the role of X chromosome breakpoints in premature ovarian failure

机译：研究X染色体断点在卵巢早衰中的作用

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The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal aberrations. In this study, we report the detailed analysis of 4 chromosomal abnormalities involving the X chromosome and associated with POF that were detected during a screening of 269 affected women. Conventional and molecular cytogenetics were valuable tools for locating the breakpoint regions and thus the following karyotypes were defined: 46,X,der(X)t(X;19)(p21.1;q13.42)mat, 46,X,t(X;2)(q21.33;q14.3)dn, 46,X,der(X)t(X;Y)(q26.2;q11.223)mat and 46,X,t(X;13)(q13.3;q31)dn. A bioinformatic analysis of the breakpoint regions identified putative candidate genes for ovarian failure near the breakpoint regions on the X chromosome or on autosomes that were involved in the translocation event. HS6ST1, HS6ST2 and MATER genes were identified and their functions and a literature review revealed an interesting connection to the POF phenotype. Moreover, the 19q13.32 locus is associated with the age of onset of the natural menopause. These results support the position effect of the breakpoint on flanking genes, and cytogenetic techniques, in combination with bioinformatic analysis, may help to improve what is known about this puzzling disorder and its diagnostic potential.
机译：遗传因素在卵巢早衰（POF）病因学中的重要性由高比例的家族病例强调，X染色体异常占染色体畸变的10％。在这项研究中，我们报告了对269例受影响妇女进行筛查时发现的涉及X染色体并与POF相关的4种染色体异常的详细分析。常规和分子细胞遗传学是定位断点区域的宝贵工具，因此定义了以下核型：46，X，der（X）t（X; 19）（p21.1; q13.42）mat，46，X，t （X; 2）（q21.33; q14.3）dn，46，X，der（X）t（X; Y）（q26.2; q11.223）mat和46，X，t（X; 13 （q13.3; q31）dn。对断点区域的生物信息学分析确定了X染色体上的断点区域或易位事件中涉及的常染色体附近卵巢衰竭的推定候选基因。鉴定了HS6ST1，HS6ST2和MATER基因，并确定了它们的功能，文献综述揭示了与POF表型的有趣联系。此外，19q13.32位点与自然更年期的发病年龄有关。这些结果支持了断点对侧翼基因的位置影响，并且细胞遗传学技术与生物信息学分析相结合，可能有助于改善有关这种令人困惑的疾病及其诊断潜力的知识。

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