Xp21邻近基因缺失综合征1例及其基因缺失分析  

Gene deletion analysis in a boy with Xp21 contiguous gene deletion syndrome

作　　者：姜俊[1] 麻宏伟[1] 王志超[1] 陈丽英[1] 松尾雅文 

机构地区：[1]中国医科大学附属第二医院遗传室,辽宁沈阳110004 [2]日本神户大学医学院国际医学研究中心遗传室

出　　处：《中国医科大学学报》2004年第5期402-404,共3页Journal of China Medical University

摘　　要：目的 :探讨Xp2 1邻近基因缺失综合征基因缺失范围。方法 :应用聚合酶链反应对 1例Xp2 1邻近基因缺失综合征患者进行基因缺失分析。结果 :该患者Xp2 1区域的缺失范围包括从DMD基因的部分 3′端序列到AHC基因的几乎全部序列 ,其中位于DMD和AHC之间的GKD基因和微卫星DNA标记DXS992未发现缺失 ,缺失的 5′端断裂点位于DMD基因外显子 6 1和外显子 6 2之间 ,3′端断裂点位于AHC基因的远端。结论 :尽管常规染色体检查正常 ,对先天性肾上腺皮质功能低下的患者 ,应进一步考虑是否患有Xp2 1邻近基因缺失综合征 。Objective: To investigate the extent of gene deletion in a boy with Xp21 contiguous gene deletion syndrome. Methods : Polymerase chain reaction (PCR) was used to test the deletion extent on the region of Xp21. Results: The deletion encompassed nearl y the whole region from a portion of 3′ end of the DMD gene to a site telomeric to the locus for X-linked AHC. However, the deletions of the GKD gene and the marker DXS992 between the DMD and the AHC were not detected. The centromeric sta rtpoint of the deletion was localized to the region between exons 61 and 62 of D MD gene. The telomeric deletion breakpoint lied in the telomeric end of AHC gene . Conclusion: Xp21 contiguous gene deletion syndrome should be considered in any patients with adrenal insufficiency irrespective of the norma l karyotype. Analysis of molecular genetics would be useful to determine the ext ent of the deletion.

关 键 词：Xp21邻近基因缺失综合征 缺失范围 聚合酶链反应 

分 类 号：Q754[生物学—分子生物学]