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Frequency and pattern of DNA deletions in duchenne (DMD) and becker (BMD) patients: comparison of different racial background and isolated versus inherited cases

Debora Rapaport; Maria Rita Passos-Bueno; Mariz Vainzof; Martha A.B.O. Lima; Mayana Zatz

Departamento de Biologia, Instituto de Biociências - USP, Caixa Postal 11461, 05499 Sao Paulo, SP, Brasil. Send correspondence to D.R.

ABSTRACT

A total of 164 unrelated Duchenne (DMD) and 21 Becker (BMD) patients from different racial backgrounds were screened for DNA deletions in the central region (probes cf23a and cf56a) of the dystrophin gene in order to determine if the frequencies of deletions differ in isolated as compared with inherited cases or in patients from different racial backgrounds (caucasoids and negroids). Among DMD patients 51 had affected relatives in their families, 107 were isolated cases and 6 were adopted children. DNA deletions were found in 42.7% of the patients (70/164) with no significant difference in frequency between caucasoids and negroids. However, a significantly greater (P < 0.02) proportion of deletions (51.4%) was observed in isolated as compared with inherited cases (29.4%). Eight (38%) deletions were detected in BMD cases, all starting in cf23a region.

Keywords: DNA deletions; Duchenne; Becker; Racial background; Inherited cases.

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