A polymorphic marker for the human cathepsin B gene

J. R. MacKenzie; Sue L. Mason; Jon G. H. Hickford; Maija R. J. Kohonen-Corish; Roy Bickerstaffe

doi:10.1006/mcpr.2001.0362

A polymorphic marker for the human cathepsin B gene

J. R. MacKenzie^*, Sue L. Mason, Jon G. H. Hickford, Maija R. J. Kohonen-Corish, Roy Bickerstaffe

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

Human cathepsin B (CTSB) is a proteolytic enzyme implicated in tumor invasion and metastasis. We describe a PCR-based polymorphic marker for this gene comprising two amplimers differing in length by 19 consecutive nucleotides in intron 7, near the exon 8 splice acceptor site, identifying two gene alleles (A and B). Allele frequencies were 0.614 for A and 0.386 for the B allele, with an observed heterozygosity of 0.457 in a cohort of 70 non-related Australian blood donors. One additional nucleotide difference was also revealed through sequencing. The human CTSB gene is located on chromosome 8 and the alleles described here can potentially be used as markers in linkage and association studies of cancers and other diseases.

Original language	English
Pages (from-to)	235-237
Number of pages	3
Journal	Molecular and Cellular Probes
Volume	15
Issue number	4
DOIs	https://doi.org/10.1006/mcpr.2001.0362
Publication status	Published - 2001
Externally published	Yes

Keywords

Cancer
Cathepsin
Gene
Human
PCR
Polymorphism
Proteolytic

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10.1006/mcpr.2001.0362

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title = "A polymorphic marker for the human cathepsin B gene",

abstract = "Human cathepsin B (CTSB) is a proteolytic enzyme implicated in tumor invasion and metastasis. We describe a PCR-based polymorphic marker for this gene comprising two amplimers differing in length by 19 consecutive nucleotides in intron 7, near the exon 8 splice acceptor site, identifying two gene alleles (A and B). Allele frequencies were 0.614 for A and 0.386 for the B allele, with an observed heterozygosity of 0.457 in a cohort of 70 non-related Australian blood donors. One additional nucleotide difference was also revealed through sequencing. The human CTSB gene is located on chromosome 8 and the alleles described here can potentially be used as markers in linkage and association studies of cancers and other diseases.",

keywords = "Cancer, Cathepsin, Gene, Human, PCR, Polymorphism, Proteolytic",

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journal = "Molecular and Cellular Probes",

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T1 - A polymorphic marker for the human cathepsin B gene

AU - MacKenzie, J. R.

AU - Mason, Sue L.

AU - Hickford, Jon G. H.

AU - Kohonen-Corish, Maija R. J.

AU - Bickerstaffe, Roy

PY - 2001

Y1 - 2001

N2 - Human cathepsin B (CTSB) is a proteolytic enzyme implicated in tumor invasion and metastasis. We describe a PCR-based polymorphic marker for this gene comprising two amplimers differing in length by 19 consecutive nucleotides in intron 7, near the exon 8 splice acceptor site, identifying two gene alleles (A and B). Allele frequencies were 0.614 for A and 0.386 for the B allele, with an observed heterozygosity of 0.457 in a cohort of 70 non-related Australian blood donors. One additional nucleotide difference was also revealed through sequencing. The human CTSB gene is located on chromosome 8 and the alleles described here can potentially be used as markers in linkage and association studies of cancers and other diseases.

AB - Human cathepsin B (CTSB) is a proteolytic enzyme implicated in tumor invasion and metastasis. We describe a PCR-based polymorphic marker for this gene comprising two amplimers differing in length by 19 consecutive nucleotides in intron 7, near the exon 8 splice acceptor site, identifying two gene alleles (A and B). Allele frequencies were 0.614 for A and 0.386 for the B allele, with an observed heterozygosity of 0.457 in a cohort of 70 non-related Australian blood donors. One additional nucleotide difference was also revealed through sequencing. The human CTSB gene is located on chromosome 8 and the alleles described here can potentially be used as markers in linkage and association studies of cancers and other diseases.

KW - Cancer

KW - Cathepsin

KW - Gene

KW - Human

KW - PCR

KW - Polymorphism

KW - Proteolytic

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U2 - 10.1006/mcpr.2001.0362

DO - 10.1006/mcpr.2001.0362

M3 - Article

C2 - 11513559

AN - SCOPUS:0034918719

SN - 0890-8508

VL - 15

SP - 235

EP - 237

JO - Molecular and Cellular Probes

JF - Molecular and Cellular Probes

IS - 4

ER -

A polymorphic marker for the human cathepsin B gene

Abstract

Keywords

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