MAJOR REARRANGEMENTS IN THE ALPHA-5(IV) COLLAGEN GENE IN 3 PATIENTS WITH ALPORT SYNDROME

被引：58

作者：

BOYE, E

VETRIE, D

FLINTER, F

BUCKLE, B

PIHLAJANIEMI, T

HAMALAINEN, ER

MYERS, JC

BOBROW, M

HARRIS, A

机构：

[1] UNIV OULU, BIOCTR, COLLAGEN RES UNIT, SF-90100 OULU 10, FINLAND

[2] UNIV OULU, DEPT MED BIOCHEM, SF-90100 OULU 10, FINLAND

[3] UNIV PENN, SCH MED, DEPT BIOCHEM & BIOPHYS, PHILADELPHIA, PA 19104 USA

[4] UNITED MED & DENT SCH GUYS & ST THOMAS HOSP, GUYS HOSP, DIV MED & MOLEC GENET, LONDON SE1 9RT, ENGLAND

来源：

GENOMICS | 1991年 / 11卷 / 04期

关键词：

D O I：

10.1016/0888-7543(91)90040-L

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA. © 1991.

引用

页码：1125 / 1132

页数：8

共 19 条

[1] Hereditary familial congenital haemorrhagic nephritis. [J].

Alport, AC .

BMJ-BRITISH MEDICAL JOURNAL, 1927, 1927 :504-506

[2]

ATKIN CL, 1988, AM J HUM GENET, V42, P249

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

BARKER, DF ;

HOSTIKKA, SL ;

ZHOU, J ;

CHOW, LT ;

OLIPHANT, AR ;

GERKEN, SC ;

GREGORY, MC ;

SKOLNICK, MH ;

ATKIN, CL ;

TRYGGVASON, K .

SCIENCE, 1990, 248 (4960) :1224-1227

[4] LOCALIZATION OF THE GENE FOR X-LINKED ALPORTS-SYNDROME [J].

BRUNNER, H ;

SCHRODER, C ;

VANBENNEKOM, C ;

LAMBERMON, E ;

TUERLINGS, J ;

MENZEL, D ;

OLBING, H ;

MONNENS, L ;

WIERINGA, B ;

ROPERS, HH .

KIDNEY INTERNATIONAL, 1988, 34 (04) :507-510

[5]

CHALKLEY G, IN PRESS J MED GENET

[6]

DOEGE KJ, 1986, J BIOL CHEM, V261, P8924

[7] GENETICS OF CLASSIC ALPORTS-SYNDROME [J].

FLINTER, FA ;

CHANTLER, C ;

CAMERON, JS ;

HOUSTON, I ;

BOBROW, M .

LANCET, 1988, 2 (8618) :1005-1007

[8] LOCALIZATION OF THE GENE FOR CLASSIC ALPORT SYNDROME [J].

FLINTER, FA ;

ABBS, S ;

BOBROW, M .

GENOMICS, 1989, 4 (03) :335-338

[9] IDENTIFICATION OF A DISTINCT TYPE-IV COLLAGEN ALPHA-CHAIN WITH RESTRICTED KIDNEY DISTRIBUTION AND ASSIGNMENT OF ITS GENE TO THE LOCUS OF X-CHROMOSOME-LINKED ALPORT SYNDROME [J].

HOSTIKKA, SL ;

EDDY, RL ;

BYERS, MG ;

HOYHTYA, M ;

SHOWS, TB ;

TRYGGVASON, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (04) :1606-1610

[10] DIFFUSE FAMILIAL NEPHROPATHY - A CLINICOPATHOLOGICAL STUDY [J].

KAUFMAN, DB ;

MCINTOSH, RM ;

SMITH, FG ;

VERNIER, RL .

JOURNAL OF PEDIATRICS, 1970, 77 (01) :37-+

← 1 2 →