| PATL2复合杂合变异致卵母细胞成熟障碍 |
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| 引用本文： | 霍明珠,张轶乐,徐家伟,史昊,刘益栋,牛文彬.PATL2复合杂合变异致卵母细胞成熟障碍[J].基础医学与临床,2022,42(1):51-55. |
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| 作者姓名： | 霍明珠 张轶乐 徐家伟 史昊 刘益栋 牛文彬 |
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| 作者单位： | 郑州大学第一附属医院 生殖医学中心 河南省生殖与遗传重点实验室,河南 郑州450052 |
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| 基金项目： | 国家自然科学基金(81701443,31970799);中华医学会临床医学科研专项资金生殖医学青年医师研究与发展项目(17020250694)。 |
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| 摘 要： | 目的探讨1例原发不孕伴卵母细胞成熟障碍患者的遗传学病因。方法对患者DNA进行全外显子组测序（WES）,对WES检测到的阳性位点进行Sanger测序验证,并对该位点进行生物学信息分析。结果 WES检测到患者PATL2第14和13外显子c.1 374A>G（p.Ile458Met）及c.1 2891 291delTCC（p.Leu430del）的复合杂合变异,母亲携带c.1 2891 291delTCC（p.Leu430del）杂合变异,父亲携带c.1 374A>G（p.Ile458Met）的杂合变异。结论患者PATL2复合杂合变异可能是其卵母细胞成熟障碍而不孕的遗传学病因。
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| 关 键 词： | PATL2基因 卵母细胞成熟障碍 |
Compound heterozygous variation of PATL2 causes oocyte maturation defect |
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| HUO Ming-zhu,ZHANG Yi-le,XU Jia-wei,SHI Hao,LIU Yi-dong,NIU Wen-bin.Compound heterozygous variation of PATL2 causes oocyte maturation defect[J].Basic Medical Sciences and Clinics,2022,42(1):51-55. |
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| Authors: | HUO Ming-zhu ZHANG Yi-le XU Jia-wei SHI Hao LIU Yi-dong NIU Wen-bin |
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| Institution: | (Henan Key Laboratory of Reproduction and Genetics, Center for Reproductive Medicine, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China) |
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| Abstract: | Objective To investigate the genetic etiology of a patient with primary infertility and oocyte maturation defect.Methods Whole exome sequencing(WES)was carried out on patient's DNA to detect potential pathologic variants.The positive sites detected by WES were verified by Sanger sequencing,and the bioinformatics analysis of the mutation was analyzed.Results The patient was found to harbor compound heterozygous variants of the PATL2 in exon 14 and 13 c.1374A>G(p.Ile458Met)and c.1289_1291delTCC(p.Leu430del),which were respectively inherited from her father and mother.Conclusions The compound heterozygous variation of PATL2 may be the genetic mechanism to explain infertility resulted from the disturbance of oocyte maturation. |
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| Keywords: | PATL2 gene oocyte maturation defect |
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