PRELIMINARY MOLECULAR ANALYSIS OF A CASE OF FELINE MUCOPOLYSACCHARIDOSIS-VI

被引：2

作者：

DELUCA, T ^{[1
]}

MINICHIELLO, L ^{[1
]}

LEONE, A ^{[1
]}

DINATALE, P ^{[1
]}

机构：

[1] UNIV NAPOLI FEDERICO II, FAC MED & CHIRURG, DIPARTIMENTO BIOCHIM & BIOTECNOL MED, PANSINI 5, I-80131 NAPLES, ITALY

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1993年 / 196卷 / 03期

关键词：

D O I：

10.1006/bbrc.1993.2375

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Deficiency of the lysosomal enzyme arylsulphatase B (ASB) causes, in man, the Maroteaux-Lamy disease (mucopolysaccharidosis type VI, MPS VI). MPS VI has been described also in Siamese cats. Isolation and characterization of the human and feline cDNAs encoding ASB has been reported as well as the assignment of the feline ASB gene to feline chromosome A1. The present paper describes the Southern and Northern blot analyses on DNA and RNA from an MPS VI affected cat using the human arylsulphatase B probe (ASB2). Our data suggest that a gross deletion/rearrangement of the ASB gene is present in the affected animal. © 1993 Academic Press. All rights reserved.

引用

页码：1177 / 1182

页数：6

共 17 条

[1] CORRECTION OF HUMAN MUCOPOLYSACCHARIDOSIS TYPE-VI FIBROBLASTS WITH RECOMBINANT N-ACETYLGALACTOSAMINE-4-SULFATASE [J].