Amplification of ten deletion‐rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy

Kitoh, Yoshihiko; Matsuo, Masafumi; Nishio, Hisahide; Takumi, Toru; Nakajima, Takeshi; Masumura, Takehiro; Koga, Junichi; Nakamura, Hajime

doi:10.1002/ajmg.1320420408

Cited by 13 publications

(7 citation statements)

References 14 publications

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“…In this study, deletion breakpoints were located mainly in introns 44 (30%), 45 (30%) and 50 (37%). Several authors have previously shown that intron 44 is the most frequent site for rearrangements in the DMD gene [Den Dunnen et al, 1989;Upadhyaya et al, 1990;Kitoh et al, 1992], whereas in the Greek population, as in our population, a major ''hot spot'' was located in intron 50 [Florentin et al, 1995]. lanes 1 and 2) and exons 45/46/52 (lanes 3 and 4).…”

Section: Discussionsupporting

confidence: 43%

Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: The use of new designed primers for the analysis of the major deletion “hot spot” region

Coral‐Vázquez,

Arenas,

Cisneros

et al. 1997

Am. J. Med. Genet.

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We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients (DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one (52%) of the patients had a deletion of one or several of the exons. Most of the alterations (87%) were clustered in exons 44-52, this being the highest percentage reported until now. In order to improve the molecular diagnosis in the Mexican population, we designed a new multiplex assay to PCR amplify exons 44-52. This assay allowed for the identification of a greater number of deletions in this region compared with the 9 and 5-plex assays previously described and to determine most of the deletion end boundaries. This is a reliable alternative for the initial screening of the DMD patients in the Mexican population.

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Section: Discussionsupporting

confidence: 43%

Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: The use of new designed primers for the analysis of the major deletion “hot spot” region

Coral‐Vázquez,

Arenas,

Cisneros

et al. 1997

Am. J. Med. Genet.

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“…We have previously screened for deletion mutations in the dystrophin gene by using PCR (13,16). Nine exons distributed throughout the deletion-prone region of the dystrophin gene have been amplified from genomic DNA from over 200 Japanese patients with DMD/BMD.…”

Section: Resultsmentioning

confidence: 99%

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

Narita

Nishio²,

Kitoh³

et al. 1993

J. Clin. Invest.

188

111

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We report here the second evidence of retrotransposition of L1, which was found inserted into the dystrophin gene of a patient, causing Duchenne muscular dystrophy (DMD). When the PCR was used to amplify a region of the dystrophin gene encompassing exon 44 from genomic DNA of two Japanese brothers with DMD, it was found to be -600 bp larger than expected. Both the normal and the abnormally large products were amplified from the DNA of their mother. However, the maternal grandparents did not have the abnormal allele, and the mutation must therefore have occurred in the mother. Analysis of nucleotide sequence of the amplified product from a patient disclosed that the insertion was present zero to two bases upstream from the 3' end of exon 44 and that two to four bases of the exon sequence were deleted from the insertion site. The insertion sequence was found to be composed of 606-608 bp and to be almost identical to the inverse complement of 3' portion of the Li retrotransposon consensus sequence. The dystrophin gene transcript from peripheral lymphocytes of one of the patients was analyzed by using reverse transcription/ semi-nested PCR. The size of the amplified product encompassing exon 42 to 46 was smaller than expected. Sequencing of the amplified product disclosed that the sequence of exon 43 was directly joined to that of exon 45. Exon 44 of the transcript was thus shown to be skipped during splicing. This novel mutation of the dystrophin gene has important implications regarding retrotransposition of an active Ll element and provides a new insight into the origins of mutations in the dystrophin gene. (J.

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“…Kitoh et al [10] studied 99 Japanese patients with DMD and found deletions in 40% of patients. In the West Midlands region of Britain, Roddie and Bundey [11] reported that DMD was twice as common as expected in Indians and less common than expected in Pakistanis.…”

Section: Discussionmentioning

confidence: 99%

Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal

Pillay

Bill

Madurai

et al. 2007

Journal of the Neurological Sciences

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Amplification of ten deletion‐rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy

Cited by 13 publications

References 14 publications

Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: The use of new designed primers for the analysis of the major deletion “hot spot” region

Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: The use of new designed primers for the analysis of the major deletion “hot spot” region

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal

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