基础医学与临床 ›› 2013, Vol. 33 ›› Issue (7): 814-818.

• 研究论文 • 上一篇    下一篇

48,XXYY综合征合并糖尿病1例的X染色体来源和失活偏移分析

潘清蓉1,茅江峰2,范慧3,姚志1,徐援1   

  1. 1. 首都医科大学附属北京朝阳医院
    2. 北京协和医院内分泌科
    3. 北京朝阳医院内分泌科
  • 收稿日期:2012-08-01 修回日期:2012-09-20 出版日期:2013-07-05 发布日期:2013-06-26
  • 通讯作者: 潘清蓉 E-mail:panqingrongcn@163.com
  • 基金资助:
    胰岛生物钟基因Bmal1 和Per2 在2 型糖尿病小鼠表达节 律的改变及其机制

A case of 48, XXYY syndrome with diabetes and analysis of the parental origin of X chromosome and skewed X-inactivation

  • Received:2012-08-01 Revised:2012-09-20 Online:2013-07-05 Published:2013-06-26
  • Contact: Qing-Rong Pan E-mail:panqingrongcn@163.com

摘要: 目的 初步探讨48,XXYY综合征合并糖尿病患者的临床特点,并分析该疾病的X染色体来源和失活偏移。方法 收集患者的临床资料,抽提患者及其父母的外周血基因组DNA, 应用PCR结合HpaⅡ限制性内切酶消化法分析X染色体来源和失活偏移。结果 患者临床表现及实验室检查完全符合48,XXYY综合征, 使用二甲双胍和睾酮治疗后患者血糖控制平稳。患者X染色体分别来源于父亲和母亲,两条X染色体均为部分失活,偏移度为0.52。结论 48,XXYY综合征合并糖尿病的发病机制可能与睾酮水平低下、胰岛素抵抗有关。48,XXYY综合征多余X染色体来源于父亲,X染色体不一定存在失活偏移。

关键词: 48,XXYY综合征, 糖尿病, X染色体失活偏移

Abstract: Objective: To explore the clinical features of 48, XXYY syndrome with diabetic; to analyze parental origin of X-chromosome and skewed X-inactivation. Methods: The clinical data were collected; Genomic DNA was extracted from a whole blood sample. The parental origin of X chromosome and skewed X-inactivation were analyzed using PCR combined Hpa Ⅱ restriction enzyme digestion. Results: The patient was diagnosed as 48, XXYY syndrome with diabetes according to the clinical presentations and laboratory examinations. Plasma glucose level remained stable after metformin plus testosterone treatment. The X chromosome were inherited from the patient’ father and mother. The degree of skew of X-inactivation was 0.52. Conclusion: The pathogenesis of diabetes in 48,XXYY patient may be associated with low testosterone levels and insulin resistance. The extra X chromosome of our case and other had reported eight cases of 48, XXYY syndrome were paternal origin. Not all of 48,XXYY syndrome patients had skew X-inactivation.

Key words: 48, XXYY syndrome, Diabetes, Skewed X chromosome inactivation