molecular diagnosis of duchene/ becker muscular dystrophy in iranian patients
نویسندگان
چکیده
duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and distribution of dystrophin gene deletions have been reported in dmd/bmd patients. in the present study, frequency and distribution of deletions of 29 exons in two hot spots within the dystrophin gene in 90 unrelated dmd patients were analyzed. a total of 90 patients suffering from dmd were ascertained, and intragenic deletions within the dystrophin gene were detected by polymerase chain reaction amplification of the genomic dna using 29 primer sets within two major deletion hot spots. intragenic deletions were detected in 47 patients (53%): 8 patients (17%) had deletions within the proximal hot spot, and 38 patients (83%) had deletions confined to the distal deletion hot spot of the dystrophin gene. the most frequently deleted exons were 47, 51 and 48 with deletion frequencies of 14.8%, 11.3% and 10%, respectively. the present study suggests that intragenic dystrophin gene deletions occur with the same frequency in iranian patients compared to other ethnic groups.
منابع مشابه
Molecular Analysis of Iranian Patients with Duchenne/Becker Muscular Dystrophies
Duchenne Muscular Dystrophy (DMD) and the milder allelic Becker Muscular Dystrophy (BMD) are X-linked disorders. Both DMD & BMD result from heterogenous mutation in the dystrophin gene and in about 65% of the cases one or more exons of the gene are deleted or duplicated. One third of cases arise from new mutation and the rest are familial. To analyze the prevalence of deletion in Iranian patien...
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Valley sign has been described in patients with Duchenne muscular dystrophy (DMD). As there are genetic and clinical similarities between DMD and Becker muscular dystrophy (BMD), this clinical sign is evaluated in this study in BMD and DMD/BMD outliers. To evaluate the sign, 28 patients with Becker muscular dystrophy (BMD), 8 DMD/BMD outliers and 44 age-matched male controls with other neuromus...
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Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical a...
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متن کاملDuchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of ...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۷، شماره ۳، صفحات ۱۸۱۶-۱۸۱۷
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