Change search
ReferencesLink to record
Permanent link

Direct link
Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.
Show others and affiliations
1986 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 30, no 4, 249-54 p.Article in journal (Refereed) Published
Abstract [en]

Fragile-X mental retardation (FRAX-MR) is one of the more common X-linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27-Xqter as probes, we have investigated Swedish families with FRAX-MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study is presented.

Place, publisher, year, edition, pages
1986. Vol. 30, no 4, 249-54 p.
URN: urn:nbn:se:umu:diva-43997PubMedID: 2878749OAI: diva2:417580
Available from: 2011-05-17 Created: 2011-05-17 Last updated: 2011-05-17

Open Access in DiVA

No full text


Search in DiVA

By author/editor
Chotai, Jayanti
By organisation
In the same journal
Clinical Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 17 hits
ReferencesLink to record
Permanent link

Direct link