一例完全型雄激素不敏感综合征患儿AR基因的变异分析

Analysis of AR gene variant in an infant with complete androgen insensitivity syndrome

目的对1例完全型雄激素不敏感综合征的患儿进行AR基因变异检测,以明确其病因。方法通过PCR和Sanger测序检测位于X染色体上的AR基因的全部编码区和剪切区,将第1外显子的扩增产物序列与基因库中的野生型序列进行比对,查找致病变异。同时应用荧光定量PCR对其家系成员AR基因的第2~8外显子进行定量扩增,分析其拷贝数改变。结果荧光定量PCR检测结果显示患儿携带AR基因第2~8外显子的半合性缺失变异,其母亲携带AR基因第2~8外显子的杂合缺失变异,其兄妹则均未检测到上述变异。结论AR基因第2~8外显子缺失的半合子变异是患儿的致病原因。

Objective To detect potential variant of AR gene in an infant with complete androgen insensitivity syndrome. Methods The coding regions and splicing sites of the AR gene were subjected to PCR amplification direct DNA sequencing. Fluorescence quantitative PCR was also used to detect copy number alterations of exons 2 to 8 of the AR gene. Results Deletion of exons 2 to 8 was detected in the proband, and the results were verified among the family members. Conclusion Hemizygotic deletion of exons 2 to 8 of the AR gene probably underlies the complete androgen insensitivity syndrome in this infant.