中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2011年
11期
922-924
,共3页
邵明玮%张雪培%王丹萍%陈存仁%宋素彩%栗夏连
邵明瑋%張雪培%王丹萍%陳存仁%宋素綵%慄夏連
소명위%장설배%왕단평%진존인%송소채%률하련
肾性尿崩症%精氨酸加压素受体2%X-连锁隐性遗传%错义突变
腎性尿崩癥%精氨痠加壓素受體2%X-連鎖隱性遺傳%錯義突變
신성뇨붕증%정안산가압소수체2%X-련쇄은성유전%착의돌변
Nephrogenic diabetes insipidus%Arginine vasopressin receptor 2%X-linked recessive inheritance%Missense mutation
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.
報道1例精氨痠加壓素受體2( arginine vasopressin receptor2,AVPR2)基因突變導緻的先天性腎性尿崩癥.提取患者及傢屬的基因組DNA,PCR擴增AVPR2的全部外顯子,擴增產物經純化後行雙嚮測序,測序結果與基因庫中序列進行比對,找齣突變位點,利用同源結構模型探討突變點對AVPR2結構的影響.髮現AVPR2基因第6 036位覈苷痠堿基T突變為C,導緻基因產物的168位氨基痠由亮氨痠突變為精氨痠,該突變點尚未報道.患者母親和姐姐基因為雜閤子,父親為正常基因型.
보도1례정안산가압소수체2( arginine vasopressin receptor2,AVPR2)기인돌변도치적선천성신성뇨붕증.제취환자급가속적기인조DNA,PCR확증AVPR2적전부외현자,확증산물경순화후행쌍향측서,측서결과여기인고중서렬진행비대,조출돌변위점,이용동원결구모형탐토돌변점대AVPR2결구적영향.발현AVPR2기인제6 036위핵감산감기T돌변위C,도치기인산물적168위안기산유량안산돌변위정안산,해돌변점상미보도.환자모친화저저기인위잡합자,부친위정상기인형.
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.