【摘要】 采集临床诊断为X-连锁肾性尿崩症的一家系3例患者及其12名亲属的血液样本,抽提基因组DNA,通过PCR扩增精氨酸血管升压索2型受体(arginine vasopressin receptor 2,AVPR2)基因的全部编码区,并直接测序。在3例患者中发现AVPR2基因的突变:g1236T→C(L292P),他们的母亲在该位点均为杂合突变。更多还原

【Abstract】 Genomic DNA was extracted from the blood samples of 3 patients from 1 pedigree with congenital nephrogenie diabetes insipidus (NDI) and their 12 family members.The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and then directly sequenced,A mutation of AVPR2 gene [g1236T→C (L292P)]was found in 3 patients.The patients’ mothers were found to have both mutant and normal alleles.更多还原