Research article

Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

Tsuyoshi Matsumura^1,2 , Kanako Goto¹ , Gaku Yamanaka^1,3 , Je Hyeon Lee⁴ , Cheng Zhang⁵ , Yukiko K Hayashi¹ and Kiichi Arahata^{^ 1}

¹Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan

²Department of Neurology, Toneyama National Hospital, Osaka, Japan

³Department of Pediatrics, Tokyo Medical University, Tokyo, Japan

⁴Takara-Korea Biomedical Incorporation, Seoul, Korea

⁵Department of Neurology, First Affiliated Hospital, Sun Yan-sen University of Medical Science, Guangzhou, China

author email corresponding author email^Deceased

BMC Neurology 2002, 2:7doi:10.1186/1471-2377-2-7

Published:	20 August 2002

Abstract

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.