PCR DETECTION OF 2 RFLPS IN EXON-I OF THE ALPHA-L-IDURONIDASE (IDUA) GENE

被引：0

作者：

SCOTT, HS ^{[1
]}

LITJENS, T ^{[1
]}

HOPWOOD, JJ ^{[1
]}

MORRIS, CP ^{[1
]}

机构：

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

来源：

HUMAN GENETICS | 1992年 / 90卷 / 03期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two polymorphisms were detected within exon I of the alpha-L-iduronidase (IDUA) gene both of which create restriction endonuclease sites and one of which changes an amino acid. The polymorphisms may be detected by digesting the same 245-bp polymerase chain reaction product. The polymorphisms can be used diagnostically in families with IDUA deficiency (mucopolysaccharidosis type I) and Huntington disease, which is closely linked to the IDUA locus.

引用

页码：327 / 327

页数：1

共 5 条

[1] HUNTINGTON DISEASE-LINKED LOCUS D4S111 EXPOSED AS THE ALPHA-L-IDURONIDASE GENE [J].

MACDONALD, ME ;

SCOTT, HS ;

WHALEY, WL ;

POHL, T ;

WASMUTH, JJ ;

LEHRACH, H ;

MORRIS, CP ;

FRISCHAUF, AM ;

HOPWOOD, JJ ;

GUSELLA, JF .

SOMATIC CELL AND MOLECULAR GENETICS, 1991, 17 (04) :421-425

[2] PCR OF A KPNI RFLP IN THE ALPHA-L-IDURONIDASE (IDUA) GENE [J].

SCOTT, HS ;

NELSON, PV ;

HOPWOOD, JJ ;

MORRIS, CP .

NUCLEIC ACIDS RESEARCH, 1991, 19 (20) :5796-5796

[3] HUMAN ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION [J].

SCOTT, HS ;

ANSON, DS ;

ORSBORN, AM ;

NELSON, PV ;

CLEMENTS, PR ;

MORRIS, CP ;

HOPWOOD, JJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (21) :9695-9699

[4] STRUCTURE AND SEQUENCE OF THE HUMAN ALPHA-L-IDURONIDASE GENE [J].

SCOTT, HS ;

GUO, XH ;

HOPWOOD, JJ ;

MORRIS, CP .

GENOMICS, 1992, 13 (04) :1311-1313

[5] PCR OF A VNTR LINKED TO MUCOPOLYSACCHARIDOSIS TYPE-I AND HUNTINGTON DISEASE [J].

SCOTT, HS ;

NELSON, PV ;

HOPWOOD, JJ ;

MORRIS, CP .

NUCLEIC ACIDS RESEARCH, 1991, 19 (22) :6348-6348

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