1997
DOI: 10.1002/(sici)1096-8628(19970613)70:3<240::aid-ajmg5>3.0.co;2-#
|View full text |Cite
|
Sign up to set email alerts
|

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

Ramón Coral‐Vázquez,
Diego Arenas,
Bulmaro Cisneros
et al.

Abstract: 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 … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

2
4
0

Year Published

2001
2001
2019
2019

Publication Types

Select...
7

Relationship

0
7

Authors

Journals

citations
Cited by 10 publications
(6 citation statements)
references
References 30 publications
2
4
0
Order By: Relevance
“…Deletions in the patients studied were most frequent in exons 45 and 43. All these findings are similar to those described by other authors [25][26][27] . The deletion frequency of 71.7% is different to that found previously in another study 27 , in which DNA was extracted from impaired muscular tissue.…”
Section: Discussionsupporting
confidence: 93%
See 1 more Smart Citation
“…Deletions in the patients studied were most frequent in exons 45 and 43. All these findings are similar to those described by other authors [25][26][27] . The deletion frequency of 71.7% is different to that found previously in another study 27 , in which DNA was extracted from impaired muscular tissue.…”
Section: Discussionsupporting
confidence: 93%
“…In the present study, however, we used DNA extracted from leukocytes. We found similar frequencies to those described in the current literature 14,17,18,25 . It is possible that by using leukocytes we were not able to find deletions caused by somatic mosaicism or germ-line cells 27 .…”
Section: Discussionsupporting
confidence: 90%
“…1). The hot spot placed in the core region (exons 44±53) presented fewer deletions than those described by current literature [Baumbach et al, 1989;den Dunnen et al, 1989;Gillard et al, 1989;Lindlof et al, 1989;Coral-Va  zquez et al, 1997].…”
Section: Discussionmentioning
confidence: 71%
“…Clinical/molecular correlation based on the reading frame alterations are present in 92% [Koenig et al, 1989]. Despite the large dimension of this gene, partial deletions and duplications cluster in two hot-spot regions: 1) the 5 H terminal gene portion that includes exons 2±20 accounting for nearly 30%; 2) central rod domain, including exons 44±53 where almost 70% of deletions are detected [Baumbach et al, 1989;den Dunnen et al, 1989;Gillard et al, 1989;Lindlof et al, 1989;Coral-Va  zquez et al, 1997]. These deletions can be found either by Southern blotting, using speci®c cDNA [Gillard et al, 1989;Koenig et al, 1989;Passos-Bueno et al, 1990;Falca Ä o-Conceic Ëa Ä o et al, 1992] or by PCR.…”
Section: Discussionmentioning
confidence: 99%
“…The muscular weakness is progressive, causing loss of ambulation by early adolescence (between 9 and 12 years of age) [ 1 ]. DMD is caused by mutations in the DMD gene that code for dystrophin, a sarcolemmal cytoskeletal protein [ 2 – 4 ]. DMD gene mutations that result in complete loss of dystrophin interrupt their translation, giving rise to DMD.…”
Section: Introductionmentioning
confidence: 99%