Pulsed‐field gradient‐gel studies around the fragile site
- 1 May 1988
- journal article
- molecular basis
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2) , 593-600
- https://doi.org/10.1002/ajmg.1320300160
Abstract
Using pulsed‐field gradient‐gel electrophoresis (PFGE) we compared two fragile X (fra(X)) chromosomes from individuals in families that exhibit linkage heterogeneity between fra(X) and coagulation factor IX (F9). The analysis of very large restriction fragments indicated that there is a structural difference in the interval between fra(X) and F9 near the locus DXS105. Differences were observed in the Sfi I partial digestion analysis and in the Mlu I pattern of the DXS105 region. Digestion with Nru I and Sst II also showed differences between these alleles. The analyses suggest that the alleles differ in a region of >200 kb. Analysis of other normal and fra(X) chromosomes will be necessary to determine whether the observed difference is a normal population variant or if it may be resonsible for the linkage heterogeneity observed between these loci.Keywords
This publication has 12 references indexed in Scilit:
- Further evidence for genetic heterogeneity in the fragile X syndromeHuman Genetics, 1987
- The effect of site-specific methylation on restriction-modification enzymesNucleic Acids Research, 1987
- PFGE of human DNA: 5-azacytidine improves restrictionNucleic Acids Research, 1987
- Separation of Large DNA Molecules by Contour-Clamped Homogeneous Electric FieldsScience, 1986
- FRAGILE X SYNDROME: A UNIQUE MUTATION IN MANAnnual Review of Genetics, 1986
- A routine method for the establishment of permanent growing lymphoblastoid cell linesHuman Genetics, 1986
- Hypervariable ‘minisatellite’ regions in human DNANature, 1985
- Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresisCell, 1984
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1984