雄激素不敏感综合征(AIS)为一类主要与雄激素受体(AR)基因缺陷密切相关的X-连锁隐性遗传病.为进一步阐明AIS的发病机制,建立了用干血纸片直接PCR扩增或将干血纸片中的血细胞洗脱裂解后进行PCR扩增雄激素受体(AR)基因的方法,结合已建立的SSCP分析及DNA直接测序等方法,可对AR基因进行突变分析.干血纸片取样及保存容易,便于邮寄,适用于外地,特别是边远地区患者的取样.该法不仅为AIS患者的AR基因突变分析和家系调查提供简便易行的方法,也适用于PCR基础上的其他各种基因的突变分析.
Androgen Insensitivity syndrome (AIS) is a X-linked recessive disease mainly associated with the defect of androgen receptor(AR). A method was established by which the AR gene can be amplified by PCR directly from the dried blood spot or from the wash-fluid of dried blood spot. The PCR products from dried blood spot have good specificity. Combining this method with SSCP and direct DNA cycle sequencing,the point mutations and the fragment changes of AR gene can be identified.This method is simple, economical and it offers the possibility of mutation analysis of AR gene or other genes from patients who live in remote countryside.
王进,陈光椿,卢建.用干血纸片扩增人雄激素受体基因[J].生物化学与生物物理进展,1999,26(3):286-288
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