Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

被引：18

作者：

Zsurka, G

Ormos, J

Ivanyi, B

Turi, S

Endreffy, E

Magyari, M

Sonkodi, S

Venetianer, P

机构：

[1] HUNGARIAN ACAD SCI,BIOL RES CTR,INST BIOCHEM,H-6726 SZEGED,HUNGARY

[2] ALBERT SZENT GYORGYI MED UNIV,DEPT PATHOL,H-6701 SZEGED,HUNGARY

[3] ALBERT SZENT GYORGYI MED UNIV,DEPT PEDIAT,H-6701 SZEGED,HUNGARY

[4] ALBERT SZENT GYORGYI MED UNIV,DEPT INTERNAL MED,H-6701 SZEGED,HUNGARY

[5] MUNICIPAL DEPT,H-6701 SZEGED,HUNGARY

来源：

HUMAN GENETICS | 1997年 / 99卷 / 04期

基金：

匈牙利科学研究基金会;

关键词：

DNA; DELETION;

D O I：

10.1007/s004390050393

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Renal biopsy of two children and a maternal relative, diagnosed with severe progressive tubulointerstitial nephritis, has shown the presence of distorted mitochondria. Mitochondrial DNA from the blood of these patients was analysed. No major deletions were found, but an A to G mutation was detected in position 5656. It is proposed that this mutation might play a causative role in the renal disease of the patients.

引用

页码：484 / 487

页数：4

共 11 条

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].