Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
3872620
TITLE
Effects of the protease inhibitor (Pi) polymorphism on alpha-1-antitrypsin concentration and elastase inhibitory capacity in human serum.
ABSTRACT
The concentration of alpha-1-antitrypsin (AAT) and its elastase inhibitory capacity (EIC) have been investigated in vitro in sera from 1688 healthy Canberra blood donors typed for electrophoretic variants of the protease inhibitor (Pi) locus. Nine Pi alleles were recorded in the sample, of which M1 was found at a frequency of nearly 70% and the other eight were each at frequencies below 15%. As a class, heterozygotes among the three Pi M subtype alleles, M1, M2 and M3, have higher means and lower variances for AAT and EiC than do the three M subtype homozygotes. Among the three homozygotes M1M1 has highest AAT and EIC and among the heterozygotes dominance in M1M2 and M1M3 is towards or beyond the high M1M1 values. Of the six other Pi alleles recorded, two (F and G) have similar values to the M subtypes but the other four (I, N, S and Z) have lower values. The patterns of means and variances in AAT and EIC for the different M subtype genotypes do not support the precise threshold function postulated by Martin and Oakeshott (1983) to relate activity to Darwinian fitness. Nevertheless, several aspects of the results are consistent with a general positive relationship between activity and fitness.
DATE PUBLISHED
1985 Mar-Apr
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 1985/03/01
medline 1985/03/01 00:01
entrez 1985/03/01 00:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Oakeshott JG Oakeshott J G JG
Muir A Muir A A
Clark P Clark P P
Martin NG Martin N G NG
Wilson SR Wilson S R SR
Whitfield JB Whitfield J B JB
INVESTIGATORS
JOURNAL
VOLUME: 12
ISSUE: 2
TITLE: Annals of human biology
ISOABBREVIATION: Ann. Hum. Biol.
YEAR:
MONTH:
DAY:
MEDLINEDATE: 1985 Mar-Apr
SEASON:
CITEDMEDIUM: Print
ISSN: 0301-4460
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Ann Hum Biol
COUNTRY: ENGLAND
ISSNLINKING: 0301-4460
NLMUNIQUEID: 0404024
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Aged
Alleles
Australia
Female
Genotype
Heterozygote Detection
Homozygote
Humans
Male
Middle Aged
Pancreatic Elastase antagonists & inhibitors
Phenotype antagonists & inhibitors
Polymorphism, Genetic antagonists & inhibitors
Sex Factors antagonists & inhibitors
alpha 1-Antitrypsin genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 alpha 1-Antitrypsin
EC 3.4.21.36 Pancreatic Elastase
OTHER ID's