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2004, Number 4

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Rev Med Hosp Gen Mex 2004; 67 (4)

Identification of deletions of DMD gen through multiplex PCR in Mexican patients with Duchenne/Becker´s muscular dystrophy

González-Huerta NC, Hernández-Zamora E, Arenas-Sordo ML, Escobar-Cedillo RE, Miranda-Duarte A, Leyva-García N

Language: Spanish
References: 32
Page: 196-202
PDF size: 115.82 Kb.


ABSTRACT

Duchenne´s muscular dystrophy (DMD) presents a frequency of 1:3500 male live births. The gene is located in Xp21.2. It’s has 2.5 Mb and 79 exons. Becker’s muscular dystrophy (BMD) is a less frequent, allelic variant. The most frequent mutations are deletions that are present in 50 to 65% and are located in specific regions called hot spots. The purpose of this work was to identify deletions by amplifying 18 exons in 17 patients with clinical diagnosis of DMD/BMD by means of Chamberlain and Beggs multiple PCR that detects 98% of the deletions, nine of which are associated with the minor hot spot and 9 with the major. Ten cases presented deletion, 30% in the minor hot spot in the 8, 12 and 13 exons and 60% in the major in the 48 and 50 exons. The molecular results as a group with the biochemistric, electromyographic exams and family history of each patient allows us to make a specific diagnosis and establish criteria for the detection of carriers with other methodology.


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