Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
AUTOR(ES)
Zatz, M
RESUMO
A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp21 points to a non-rand association of this site with the DMD phenotype. A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp21.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048790Documentos Relacionados
- Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.
- Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
- Duchenne muscular dystrophy in a female with a translocation involving Xp21.
- Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.
- Duchenne muscular dystrophy: an historical treatment review