[Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 20(5): 376-80, 2003 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-14556187
ABSTRACT
OBJECTIVE:
To study the exons deletion mechanisms for dystrophin gene, the molecular characters of breakpoints of junction fragments for deletion-type Duchenne muscular dystrophy (DMD) patients with 46 and 51 exons deletion were compared and analyzed.METHODS:
Deletion-type DMD patients were detected by multiplex polymerase chain reaction(mPCR). The breakpoints of junction fragments with 46 and 51 exons deletions were cloned and sequenced respectively.RESULTS:
Analysis of sequences of deletion-junction fragment of exon 46 showed that the 5'breakpoint was located in AT-rich region of intron 45 and the 3' breakpoint was in medium reiteration repeats (MER1) sequence. There existed 2 bp(ta) junction homology between two breakages. No small insertion, small deletion or point mutation was located near the junction point. Similarly, analysis of sequences of deletion-junction fragment of exon 51 showed that the 5 breakpoint was located in transposon-like human elements (THE1) of intron 50 and the 3' breakpoint was in L2 sequence. There existed 3 bp(cta) junction homology between two breakages. No small insertion, small deletion or point mutation was located near the junction point. By analyzing the secondary structure of junction fragments with 46 and 51 exons deletions, it was demonstrated that all breakpoints of junction fragments were located at the non-matching regions of single-strand hairpin.CONCLUSION:
By comparing the junction fragments with 46 or 51 exons deletion, it was found that all of breakpoints were located in repeat sequences and the repeat sequences formed the single-strand hairpin which could make the introns instable and result in exon deletion.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Íntrons
/
Distrofina
/
Deleção de Sequência
/
Distrofia Muscular de Duchenne
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2003
Tipo de documento:
Article