SMALL FRAMESHIFT DELETIONS WITHIN THE COL4A5 GENE IN JUVENILE-ONSET ALPORT SYNDROME

被引：24

作者：

RENIERI, A

SERI, M

GALLI, L

COSCI, P

IMBASCIATI, E

MASSELLA, L

RIZZONI, G

RESTAGNO, G

CARBONARA, AO

STRAMIGNONI, E

BASOLO, B

PICCOLI, G

DEMARCHI, M

机构：

[1] UNIV SIENA,CATTEDRA GENET MED,DIPARTIMENTO BIOL MOLEC,I-53100 SIENA,ITALY

[2] OSPED PROVINCIALE MAGGIORE,DIV NEFROL & DIALISE,I-20075 LODI,ITALY

[3] OSPED PEDIAT BAMBINO GESU IST RICOVERO & CURA CARATTERE SCI,DIV NEFROL & DIALIST,I-00165 ROME,ITALY

[4] OSPED MAGGIORE SAN GIOVANNI BATTISTA & CITTA TORINO,SERV GENET MED,I-10126 TURIN,ITALY

[5] OSPED SAN GIOVANNI BOSCO,DIV NEFROL & DIALISI,I-10154 TURIN,ITALY

[6] UNIV TORINO,OSPED SAN LUIGI,DIPARTIMENTO SCI CLIN & BIOL,I-10043 ORBASSANO,ITALY

[7] CTR CNR,CII CIOS,DIPARTIMENTO GENET BIOL & CHIM MED,I-10126 TURIN,ITALY

来源：

HUMAN GENETICS | 1993年 / 92卷 / 04期

关键词：

D O I：

10.1007/BF01247348

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.

引用

页码：417 / 420

页数：4

共 19 条

[1]

ATKIN CL, 1988, DISEASES KIDNEY, V1, P617

[2] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME [J].