HUNTINGTON DISEASE-LINKED LOCUS D4S111 EXPOSED AS THE ALPHA-L-IDURONIDASE GENE

被引：28

作者：

MACDONALD, ME

SCOTT, HS

WHALEY, WL

POHL, T

WASMUTH, JJ

LEHRACH, H

MORRIS, CP

FRISCHAUF, AM

HOPWOOD, JJ

GUSELLA, JF

机构：

[1] UNIV CALIF IRVINE,DEPT BIOL CHEM,IRVINE,CA 92717

[2] HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02114

[3] ADELAIDE CHILDRENS HOSP INC,DEPT CHEM PATHOL,LYSOSOMAL DIS RES UNIT,ADELAIDE,SA 5006,AUSTRALIA

[4] IMPERIAL CANC RES FUND,LONDON WC2A 3PX,ENGLAND

[5] EUROPEAN MOLEC BIOL LAB,W-6900 HEIDELBERG,GERMANY

来源：

SOMATIC CELL AND MOLECULAR GENETICS | 1991年 / 17卷 / 04期

关键词：

D O I：

10.1007/BF01233067

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：

Alpha-L-Iduronidase (IDUA) has been intensively studied due to its causative role in mucopolysaccharidosis type I (Hurler, Scheie and Hurler/Scheie syndromes). The recent cloning of a human IDUA cDNA has resulted in a reevaluation of the chromosomal location of this gene. Previously assigned to chromosome 22, IDUA now has been localized to 4p16.3, the region of chromosome 4 associated with Huntington's disease (HD). The existence of a battery of cloned DNA, physical map information, and genetic polymorphism data for this region has allowed the rapid fine mapping of IDUA within the terminal cytogenetic band of 4p. IDUA was found to be coincident with D4S111, an anonymous locus displaying a highly informative multiallele DNA polymorphism. This map location, 1.1 x 10(6) bp from the telomere, makes IDUA the most distal cloned gene assigned to 4p. However, it falls within a segment of 4p16.3 that has been eliminated from the HD candidate region, excluding a role for IDUA in this disorder.

引用

页码：421 / 425

页数：5

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