| 无性腺症患者合并Y染色体结构重排的临床及细胞分子遗传学分析 |
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| 引用本文： | 崔英霞,史轶超,刘琦,夏欣一,卢洪涌,魏丽,姚兵,戈一峰,王国洪,李晓军,黄宇烽.无性腺症患者合并Y染色体结构重排的临床及细胞分子遗传学分析[J].医学研究生学报,2010,23(1):57-62. |
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| 作者姓名： | 崔英霞 史轶超 刘琦 夏欣一 卢洪涌 魏丽 姚兵 戈一峰 王国洪 李晓军 黄宇烽 |
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| 作者单位： | 1. 南京军区南京总医院解放军临床检验医学研究所,南京,210002
2. 南京军区南京总医院妇产科,南京,210002 |
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| 基金项目： | 江苏省135工程重点学科基金([2001]34);;江苏省科技厅平台项目基金(BM2008151) |
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| 摘 要： | 目的无性腺症是罕见的，其分子机制尚不清楚。文中报道1例无性腺症患者合并Y染色体结构重排。方法染色体核型分析结合荧光染色体原位杂交（FISH）和聚合酶链反应-序列标签位点（PCR—STS）以确定患者核型。对SRY和SHOX基因进行序列分析。用反转录荧光定量PCR（RT—qPCR）对位于Y染色体长臂的AZFa上USP9Y基因和U吖基因进行表达分析。结果患者核型为46，X，der（Y）（pter→q11．23：：pter→p11．31 or p11．2：）．ishder（Y）（DYZ3＋，SRY＋＋，pter＋＋，qter-）。患者Ypter→p11．31或p11．2片段重复，q11．23→qter片段缺失，没有性染色体嵌合和常染色体结构畸变。SRY和SHOX基因测序未发现突变。Y染色体上的USP9Y基因和UTY基因几乎不表达。结论文中1例无性腺症患者合并Y染色体结构重排是首次报道，Y-连锁基因几乎不表达，提示Y染色体可能失活，推测是无性腺症和矮身材的原因。
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| 关 键 词： | 无性腺症 矮身材 Y染色体重排 SRY基因 SHOX基因 |
A novel case of agonadism with Y chromosome rearrangement: Clinical and cytogenomic analyses |
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| CUI Ying-xia,SHI Yi-chao,LIU Qi,XIA Yin-yi,LU Hong-yong,WEI Li,YAO Bing,GE Yi-feng,WANG Guo-hong,LI Xiao-jun,HUANG Yu-feng.A novel case of agonadism with Y chromosome rearrangement: Clinical and cytogenomic analyses[J].Bulletin of Medical Postgraduate,2010,23(1):57-62. |
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| Authors: | CUI Ying-xia SHI Yi-chao LIU Qi XIA Yin-yi LU Hong-yong WEI Li YAO Bing GE Yi-feng WANG Guo-hong LI Xiao-jun HUANG Yu-feng |
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| Institution: | 1.PLA institute of Clinical Laboratoty Medicine;2.Department of Gynaecology and Obstetrics;Nanjing General Hospital of Nanjing Military Command;PLA;Nanjing 210002;Jiangsu;China |
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| Abstract: | Objective Agonadism is a rare disease and its molecular mechanism is not yet clear.We reported a novel case of primary agonadism with Y chromosome rearrangement.Methods Chromosome analysis,FISH and PCR-STS were performed to determine the karyotype of the patient,sequencing analyses were conducted on the SRY and SHOX genes,and RT-qPCR was employed to detect the expression levels of the USP9Y and UTY genes on the region of AZFa in the Y chromosomal long arm.Results All the metaphases examined from the patient... |
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| Keywords: | Agonadism Short stature Y chromosome rearrangement SRY gene SHOX gene |
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