Physical mapping of four serpin genes: [alpha][sub 1]-antitrypsin, [alpha][sub 1]-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32. 1

Journal Article · Mon Feb 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6572702

Billingsley, G D; Cox, D W ^[1]; Walter, M A ^[2]; Hammond, G L ^[3]

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1. Hospital for Sick Children, Toronto, Ontario (Canada) Univ. of Toronto, Ontario (Canada)
2. Imperial Cancer Research Fund, London, Ontario (Canada)
3. Univ. of Western Ontario, London (Canada)

Alpha[sub 1]-antitrypsin ([alpha]1AT; protease inhibitor [PI] locus), [alpha][sub 1]-antichymotrypsin ([alpha]1ACT; AACT locus), corticosteroid-binding globulin (CBG; CBG locus), and protein C inhibitor (PCI; PCI locus) are members of the serine protease inhibitor (serpin) superfamily. A noncoding PI-like (PIL) gene has been located 12 kb 3[prime] of the PI gene. The PI, PIL, and AACT loci have been localized to 14q32.1, the CBG locus has been localized to 14q31-14q32.1, and PCI has been mapped to chromosome 14. Genetic linkage analysis suggests tight linkage between PI and AACT. The authors have used pulsed-field gel electrophoresis to generate a physical map linking these five serpin genes. The order of the genetic loci is AACT/PCI-PI-PIL-CBG, with a maximum distance of about 220 kb between the AACT/PCI and PI genes. These genes form a PI cluster at 14q32.1, similar to that of the homologous genes on murine chromosome 12. The close proximity of these genes has implications for disease-association studies. 44 refs., 6 figs., 2 tabs.

• OSTI ID: 6572702
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
CHYMOTRYPSIN
DISEASES
ELECTROPHORESIS
ENZYME INHIBITORS
ENZYMES
HUMAN CHROMOSOMES
HYDROLASES
MAPPING
ORGANIC COMPOUNDS
PEPTIDE HYDROLASES
PROTEINS
SERINE PROTEINASES
TRYPSIN