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Titolo:
(Re)constructing genetic disease: The clinical continuum between cystic fibrosis and male infertility
Autore:
Kerr, A;
Indirizzi:
Univ Edinburgh, Sci Studies Unit, Edinburgh EH8 9YL, Midlothian, Scotland Univ Edinburgh Edinburgh Midlothian Scotland EH8 9YL Midlothian, Scotland
Titolo Testata:
SOCIAL STUDIES OF SCIENCE
fascicolo: 6, volume: 30, anno: 2000,
pagine: 847 - 894
SICI:
0306-3127(200012)30:6<847:(GDTCC>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL BILATERAL ABSENCE; TRANSMEMBRANE CONDUCTANCE REGULATOR; VAS-DEFERENS; CFTR GENE; SOCIAL CONSTRUCTION; OBSTRUCTIVE AZOOSPERMIA; PARTIAL PENETRANCE; HUMAN GENOME; MILD FORM; MEN;
Keywords:
counselling; dynamic flexibility; genes; mutation; reductionism; specified ignorance; uncertainty;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Arts & Humanities
Citazioni:
100
Recensione:
Indirizzi per estratti:
Indirizzo: Kerr, A Univ York, Dept Sociol, York YO10 5DD, N Yorkshire, England Univ York York N Yorkshire England YO10 5DD N Yorkshire, England
Citazione:
A. Kerr, "(Re)constructing genetic disease: The clinical continuum between cystic fibrosis and male infertility", SOCIAL ST S, 30(6), 2000, pp. 847-894

Abstract

In this paper I explore the construction of a clinical continuum between agenetic disease, cystic fibrosis (CF), and male infertility. I provide a brief outline of the history of cystic fibrosis and its association with male infertility, before examining the contention that a growing number of cases of male infertility are a form of CF. I explore various processes involved in the construction of the clinical continuum between CF and male infertility: first, the identification of genetic mutations for male infertility,which includes the creation of unidentified mutations and the redefinitionof polymorphisms or variations in the genetic code as mutations; second. the establishment of a common principal defect for the two entities; third, the identification of other symptoms and positive tests for CF in infertilemales; and. fourth. the mutual development of genetic research into CF andinfertility and the genetic surveillance of infertile couples. Throughout I highlight the treatment of uncertainties and reductionism in these processes, particularly in practitioners' characterization of mutations. explanations of the basic defect, identification of other symptoms and treatment oftest results. I also examine the various ways in which research and clinical practices inter-relate. I end by considering the implications of this case study for the social analysis of genetics more generally.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/10/20 alle ore 11:12:56