一个常染色体显性遗传性垂体性尿崩症家系AVP-NPⅡ基因的连锁和突变分析  

Linkage and mutation analysis of a family with autosomal dominant neurohypophyseal diabetes insipidus

作　　者：陈瑛[1] 叶蕾[1] 刘建民[1] 张连珍[1] 赵红燕[1] 杨义生[1] 陆云[2] 江海松[2] 郑广勇[2] 李小英[1] 宁光[1] 

机构地区：[1]上海市内分泌代谢病临床医学中心上海交通大学医学院附属瑞金医院内分泌代谢科,上海市内分泌代谢病研究所,200025 [2]中国科学院和第二医科大学生命科学研究院健康中心

出　　处：《中华内分泌代谢杂志》2006年第3期248-251,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：上海市第二期重点学科(沪教委高2005-39-Y0204)

摘　　要：目的寻找中国人常染色体显性遗传性垂体性尿崩症(autosomal dominant neufohypophyseal diabetes insipidus,ADNDⅠ)的致病基因。方法采集ADNDⅠ家系,抽提基因组DNA,对AVP-NPⅡ基因进行微卫星标记(STR)连锁分析和PCR直接测序。结果连锁分析结果显示,AVP-NPⅡ基因位点与ADNDⅠ表型连锁,但PCR产物直接测序未发现任何碱基的改变。结论推测ADNDⅠ存在遗传多样性,很可能有其他致病基因突变影响机体正常水代谢,导致ADNDⅠ的发生。Objective To search the mutant gene responsible for autosomal dominant neurohypophyseal diabetes insipidus （ADNDⅠ ）. Methods Genomic DNA was extracted from the peripheral blood of those family members. STR linkage analysis was performed around AVP-NP Ⅱ gene locus. Direct PCR sequencing was further performed to identify the underlying mutant sites throughout AVP-NP Ⅱ gene. Results Linkage was established between the AVP-NP Ⅱ gene locus and the phenotype of ADNDⅠ. However, any mutation does not be detected in the AVP-NP Ⅱ gene. Conclusion Linkage analysis suggests that some other gene defects around the locus of D20S842 and D20S889 might be responsible for ADNDⅠ in this family.

关 键 词：尿崩症 突变 精氨酸升压素 AVP-NPⅡ基因 

分 类 号：R584.3[医药卫生—内分泌]