一例精氨酸加压素受体2基因突变的先天性肾性尿崩症患者的临床及家系研究

报道1例精氨酸加压素受体2( arginine vasopressin receptor2,AVPR2)基因突变导致的先天性肾性尿崩症.提取患者及家属的基因组DNA,PCR扩增AVPR2的全部外显子,扩增产物经纯化后行双向测序,测序结果与基因库中序列进行比对,找出突变位点,利用同源结构模型探讨突变点对AVPR2结构的影响.发现AVPR2基因第6 036位核苷酸碱基T突变为C,导致基因产物的168位氨基酸由亮氨酸突变为精氨酸,该突变点尚未报道.患者母亲和姐姐基因为杂合子,父亲为正常基因型.

A case of congenital nephrogenic diabetes insipidus: his pedigree and clinical evaluation

A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.