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Gene Review: 

FRAXD  -  fragile site, aphidicolin type, common,...

Homo sapiens

 
 
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Disease relevance of FRAXD

  • The distal long arm of the X chromosome contains at least 2 fragile sites, the well known rare site at Xq27.3 (FRAXA), associated with the fragile-X syndrome, and a common fragile site at Xq27.2 (FRAXD), inducible by high doses of aphidicolin [1].
 

High impact information on FRAXD

  • Therefore, it appears that FRAXD occurs very rarely in cultures treated to induce FRAXA since only one positive cell was observed in over 88,000 analyzed [2].
  • Location of FRAXD in Xq27.2. Fragile sites on the X chromosome [3].
 

Other interactions of FRAXD

  • It appears that very low frequencies of fra(X)(q27) can be accounted for only in part by the presence of the common fragile site since only one of 9 cases, each with one fra(X)(q27) positive cell, exhibited FRAXD and the others were FRAXA [2].

References

  1. Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome. Ramos, F.J., Emanuel, B.S., Spinner, N.B. Am. J. Med. Genet. (1992) [Pubmed]
  2. Fra(X)(q27.2), the common fragile site, observed in only one of 760 cases studied for the fragile X syndrome. Jenkins, E.C., Genovese, M.J., Duncan, C.J., Gu, H., Stark-Houck, S.L., Lele, K., Li, S.Y., Krawczun, M.S. Am. J. Med. Genet. (1992) [Pubmed]
  3. Location of FRAXD in Xq27.2. Fragile sites on the X chromosome. Hecht, F., Bixenman, H.A. Cancer Genet. Cytogenet. (1990) [Pubmed]
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