uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices
Show others and affiliations
1996 (English)In: Clinical Chemistry, ISSN 0009-9147, E-ISSN 1530-8561, Vol. 42, no 9, 1398-1404 p.Article in journal (Refereed) Published
Abstract [en]

Large-scale genetic screening programs are complex enterprises in which ethical, technical, medical, and socioeconomic aspects have to be handled with professional expertise. Establishment of automated, relatively robust, and inexpensive laboratory techniques is one step of this path. Here a pilot carrier-screening program for the mutations causing aspartylglucosaminuria was carried out for pregnant women in primary care maternity health offices. Women (1975) were tested before their 12th week of pregnancy, and 31 heterozygotes were detected. The sampling was based on dried blood strips, facilitating convenient handling and inexpensive mailing to the laboratory. The mutation detection technique, solid-phase mini-sequencing simplified by the use of scintillation microplates and automated equipment, proved to be rapid, simple, inexpensive, and reliable, with a low repeat rate (2.5%). In conclusion, we found that good collaboration between the primary healthcare unit, the laboratory, and counseling experts, combined with modern laboratory technology, facilitate reliable low-cost genetic testing.

Place, publisher, year, edition, pages
1996. Vol. 42, no 9, 1398-1404 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-169819PubMedID: 8787695OAI: oai:DiVA.org:uu-169819DiVA: diva2:507788
Available from: 2012-03-06 Created: 2012-03-06 Last updated: 2012-04-10Bibliographically approved

Open Access in DiVA

No full text


Search in DiVA

By author/editor
Syvänen, Ann-Christine
In the same journal
Clinical Chemistry
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 122 hits
ReferencesLink to record
Permanent link

Direct link