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.
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页码：1125 / 1132
页数：8
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