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  

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

作　　者：潘清蓉[1] 茅江峰[2] 范慧[1] 姚志[1] 徐援[1] 

机构地区：[1]首都医科大学附属北京朝阳医院内分泌科,北京100020 [2]北京协和医学院北京协和医院内分泌科,北京100730

出　　处：《基础医学与临床》2013年第7期814-818,共5页Basic and Clinical Medicine

基　　金：国家自然科学青年基金(81100587)

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。Objective To explore the clinical features of 48, origin of X-chromosome and skewed X-inactivation. Methods XXYY syndrome with diabetices; to Genomic DNA was extracted from analyze parental peripheral 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 ac- cording to the clinical presentations and laboratory examinations. Plasma glucose level remained stable after met- formin plus testosterone treatment. The X chromosome were inherited from the patient＇ father and mother. The de- gree of skew of X-inactivation was 0. 52. Conclusions 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 others have reported eight cases of 48, XXYY syndrome were paternal origin. Not all of 48, XXYY syndrome patients had skew X-inactivation

关 键 词：48 XXYY综合征 糖尿病 X染色体失活偏移 

分 类 号：R596[医药卫生—内科学] R587.1[医药卫生—临床医学]