Comparative study on deletions of the dystrophin gene in three Asian populations |
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Authors: | P-S Lai Y Takeshima K Adachi K van Tran H Thi Nguyen P-S Low M Matsuo |
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Institution: | (1) Division of Human Genetics, Department of Paediatrics, National University of Singapore, Singapore, SG;(2) Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, JP;(3) Division of Moleculan Modicine, Kobe University Graduate School of Medicine, Kobe, Japan, JP;(4) Department of Endocrinology, Metabolism and Genetics, National Institute of Pediatrics, Hanoi, Vietnam, VN;(5) Division of Molecular Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan. matsuo@kobe-u.ac.jp, JP |
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Abstract: | The frequency and distribution of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central
regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam. DNA samples obtained
from 105 Singaporean, 86 Japanese, and 34 Vietnamese Duchenne muscular dystrophy patients were examined by polymerase chain
reaction amplification. Deletions of the examined exons were found in 51.2% of Japanese patients but in 40.0% or less of the
Singaporeans and Vietnamese. About two thirds of the deletions were localized in the central region and the remaining deletions
were clustered at the proximal region. The most commonly deleted exons at the central deletion hot spot were exon 50 in the
Singaporean, exons 49 and 50 in the Japanese, and exon 51 in the Vietnamese population. At the proximal deletion hot spot,
the most commonly deleted exons were exons 6 and 8 in the Singaporeans, exons 12 and 17 in the Japanese, and exons 8 and 12
in the Vietnamese. Two cases each from Singapore and Japan had large-scale gross mutations spanning both deletion hot spots.
Our results suggest that, although the presence and frequency of the two deletion hot spots may be similar in the three Asian
populations analyzed, the distribution and frequency of deletions among the different exons can vary as a result of population-specific
intronic sequences that predispose individuals to preferential deletion breakpoints.
Received: May 20, 2002 / Accepted: July 1, 2002 |
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Keywords: | Duchenne muscular dystrophy Dystrophin gene Deletion frequencies Asian populations Singaporean Japanese Vietnamese |
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