【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 ,分子遗传学分析有助于确定基因缺失的范围更多还原

【Abstract】 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.更多还原