Access

You are not currently logged in.

Access JSTOR through your library or other institution:

login

Log in through your institution.

Journal Article

Disrupting Genetic Dogma: Bridging Cytogenetics and Molecular Biology in Fragile X Research

Andrew J. Hogan
Historical Studies in the Natural Sciences
Vol. 45, No. 1 (Feb., 2015), pp. 174-197
DOI: 10.1525/hsns.2015.45.1.174
Stable URL: http://www.jstor.org/stable/10.1525/hsns.2015.45.1.174
Page Count: 24
Were these topics helpful?
See something inaccurate? Let us know!

Select the topics that are inaccurate.

Cancel
  • More info
  • Add to My Lists
  • Cite this Item
Disrupting Genetic Dogma
Preview not available

Abstract

Historians of science, reflecting the disciplinary divides of their actors, have largely examined cytogenetics and molecular biology in separate contributions. In recent years, however, as the historical analysis of postwar genetics has begun to shift toward a focus on the late twentieth century, these distinctions have become increasingly impractical. This paper examines the collaborative use of cytogenetic and molecular analysis by research groups as they examined a unique chromosomal marker associated with inherited intellectual disability, known as the fragile X site. As clinicians and biologists studied the fragile X site during the early 1980s, they noted its unusual behavior under the microscope and in family pedigrees. These findings greatly complicated attempts to use the chromosomally visible fragile X site to warn female carriers and identify fetuses affected by fragile X syndrome, leading to the recruitment of molecular biologists to develop improved diagnostic techniques. Molecular biologists were also drawn to study the fragile X site by the potential basic research implications of its unusual behavior. Collaborating across international and interdisciplinary divides, cytogeneticists and molecular biologists established the fragile X site as a novel and unanticipated example of genomic instability. During the 1980s, cytogenetic and molecular examination of the fragile X site contributed significantly to disrupting the longstanding genetic dogma of intergeneration stability, and demonstrated the role of genomic dynamism in the development of disease-causing mutations.

Page Thumbnails

  • Thumbnail: Page 
1
    1
  • Thumbnail: Page 
2
    2
  • Thumbnail: Page 
3
    3
  • Thumbnail: Page 
4
    4
  • Thumbnail: Page 
5
    5
  • Thumbnail: Page 
6
    6
  • Thumbnail: Page 
7
    7
  • Thumbnail: Page 
8
    8
  • Thumbnail: Page 
9
    9
  • Thumbnail: Page 
10
    10
  • Thumbnail: Page 
11
    11
  • Thumbnail: Page 
12
    12
  • Thumbnail: Page 
13
    13
  • Thumbnail: Page 
14
    14
  • Thumbnail: Page 
15
    15
  • Thumbnail: Page 
16
    16
  • Thumbnail: Page 
17
    17
  • Thumbnail: Page 
18
    18
  • Thumbnail: Page 
19
    19
  • Thumbnail: Page 
20
    20
  • Thumbnail: Page 
21
    21
  • Thumbnail: Page 
22
    22
  • Thumbnail: Page 
23
    23
  • Thumbnail: Page 
24
    24