Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients.
BACKGROUND
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by the weakness of facial, shoulder-girdle and upper arm muscles. Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported.


METHODS
To clarify the influence on the deletion of the repeats, we surveyed three different ethnic populations and FSHD patients using the BglII/BlnI dosage test.


RESULTS
The frequency of translocation in 153 Japanese, 124 Korean, 114 Chinese healthy individuals and 56 Japanese 4q35-FSHD patients were 27.5%, 29.8%, 19.3%, and 32.1%, respectively. The ratio of '4 on 10' (trisomy and quatrosomy of chromosome 4) was higher than that of '10 on 4' (nullsomy and monosomy of chromosome 4) in all populations.


CONCLUSIONS
The inter-chromosomal exchange was frequently observed in all four populations we examined, and no significant difference was observed between healthy and diseased groups.
Matsumura
Tsuyoshi
T
Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan. matumura@toneyama.hosp.go.jp
Goto
Kanako
K
Yamanaka
Gaku
G
Lee
Je Hyeon
JH
Zhang
Cheng
C
Hayashi
Yukiko K
YK
Arahata
Kiichi
K
D000782:Aneuploidy; D002681:China / Q000208:ethnology; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007564:Japan / Q000208:ethnology; D007723:Korea / Q000208:ethnology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000208:ethnology* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*