Summary
The rare autosomal fragile site, fra (16)(q22), is the most common of all rare autosomal fragile sites and has a heterozygote frequency of about 5%. Evidence for it was found following the segregation expected from a simple codominant trait with complete penetrance; this is in contrast to a variety of other rare autosomal fragile sites. Based on the analysis of 12 families in which fra (16)(q22) is segregating, we found that, whereas complete penetrance could be confirmed, the transmitting parent was significantly more likely to be of the female sex. On the other hand, there was no evidence for preferential transmission to offspring of either sex.
Similar content being viewed by others
References
Feichtinger W (1989) Wirkung von AT- und GC-spezifischen Substanzen auf die Chromosomen des Menschen und nahverwandter Säugetiere. Dissertation, Würzburg
Sachs L (1984) Angewandte Statistik. Anwendung statistischer Methoden, 6th edn. Springer, Berlin Heidelberg New York Tokyo
Schmid M, Klett C, Niederhofer A (1980) Demonstration of a heritable fragile site in human chromosome 16 with distamycin A, Cytogenet Cell Genet 28:87–94
Schmid M, Feichtinger W, 614–01 A, Köhler J, Lange R (1986) The fragile site fra (16) (q22). I. Induction by AT-specific DNA ligands and population frequency. Hum Genet 74:67–73
Sherman SL, Sutherland GR (1986) Segregation analysis of rare autosomal fragile sites. Hum Genet 72:123–128
Sutherland GR (1982) Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25. Am J Hum Genet 34: 753–756
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Müller, B., Feichtinger, W., Bonaïti-Pellié, C. et al. Fragile site (16) (q22). Hum Genet 89, 612–614 (1992). https://doi.org/10.1007/BF00221948
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00221948