[Intron 44 is not the most unstable intron in the "central deletion hot spot" of dystrophin gene].
OBJECTIVE
To understand the distributional characteristics of dystrophin gene deletion breakpoints in "central deletion hot spot" and analyze the instability of introns 44-51 after excluding the effect of intron's length.


METHODS
Fifty-nine Duchenne/Becker muscular dystrophy(DMD/BMD) patients were detected by polymerase chain reactions with the primers to amplify exons 44-52 of dystrophin gene. The amount of actual breakpoints, expected breakpoints according to its length, and the ratios of actual breakpoints to expected values(A/E) for introns 44-51 were calculated respectively.


RESULTS
In "central deletion hot spot", about 30.8% of breakpoints fell in intron 44, about 23.1%, 17.9%, 10.3%, 10.3% of breakpoints fell in introns 50,51, 45, 48, respectively. But the amount of actual breakpoints of intron 44 was less than that of expected breakpoints according to its length, the ratio of A/E was 0.7. The amount of actual breakpoints of introns 48, 50, 51, 45 were more than that of length expected value. The ratios of A/E were 2.7, 2.0, 1.9, 1.1, respectively.


CONCLUSIONS
Intron 44 is more stable than the whole molecular region of "central deletion hot spot". Introns 48, 50 and 51 are comparatively instable in "central deletion hot spot".
Pan
S
S
Department of Neurology, the First Affiliated Hospital, the Sun Yat-sen Medical University, Guangzhou, Guangdong 510080 P. R. China. watson@fimu.edu.cn
Xie
Y
Y
Zhang
C
C
Liu
Z
Z
Chen
G
G
Lu
X
X
D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D007438:Introns; D009136:Muscular Dystrophies / Q000235:genetics*
D016189:Dystrophin