TY - JOUR
T1 - Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies
AU - Herczegfalvi, Á
AU - Tóth, G.
AU - Gyürüs, P.
AU - Morava, É
AU - Endreffy, E.
AU - Fodor, F.
AU - Mechler, F.
AU - László, A.
AU - Raskó, I.
AU - Melegh, B.
N1 - Funding Information:
This work was supported in part by grants FKFP 1261/1997 and AMFK490/98 to B.M., by OTKA T 012871 and ETT T-09 15/93 to I.R.
PY - 1999/12/1
Y1 - 1999/12/1
N2 - Deletion pattern analysis of the dystrophin gene was performed in 159 Hungarian patients with Duchenne/Becker muscular dystrophy. In 116 cases (73% of total patients), exon deletions were detected by PCR amplification. In 37 patients (31.9% of patients with a deletion) one exon was deleted, while five or more exons were missing in 40 children (34.4%). With respect to the proximal-distal distribution of the deletions, 90 children (77.6%) had deletions exclusively at the 3' end of the gene, 21 deletions (18.1%) affected only the 5' end, and in five patients (4.3%) large-scale deletions were detected, which affected both regions. Analysis of the breakpoint distribution pattern in the dystrophin gene showed that, similarly to that observed in several Western European populations, intron 44 was involved most frequently (n=35, 15.1%) as a starting breakpoint. In the Hungarian population introns 50 and 52 were the second (n=30, 12.9%) and third (n=29, 12.5%) most frequently observed hot spots at the 3' end; these seem to be characteristic for the Hungarian patients. At the 5' end the breakpoint peak (n=6, 2.58%) was in intron two. As it was proposed by previous national studies, our findings also suggest that certain intronic sequences, characteristic for a population, probably determine the development of a preferential breakpoint profile in this disease. Copyright (C) 1999 Elsevier Science B.V.
AB - Deletion pattern analysis of the dystrophin gene was performed in 159 Hungarian patients with Duchenne/Becker muscular dystrophy. In 116 cases (73% of total patients), exon deletions were detected by PCR amplification. In 37 patients (31.9% of patients with a deletion) one exon was deleted, while five or more exons were missing in 40 children (34.4%). With respect to the proximal-distal distribution of the deletions, 90 children (77.6%) had deletions exclusively at the 3' end of the gene, 21 deletions (18.1%) affected only the 5' end, and in five patients (4.3%) large-scale deletions were detected, which affected both regions. Analysis of the breakpoint distribution pattern in the dystrophin gene showed that, similarly to that observed in several Western European populations, intron 44 was involved most frequently (n=35, 15.1%) as a starting breakpoint. In the Hungarian population introns 50 and 52 were the second (n=30, 12.9%) and third (n=29, 12.5%) most frequently observed hot spots at the 3' end; these seem to be characteristic for the Hungarian patients. At the 5' end the breakpoint peak (n=6, 2.58%) was in intron two. As it was proposed by previous national studies, our findings also suggest that certain intronic sequences, characteristic for a population, probably determine the development of a preferential breakpoint profile in this disease. Copyright (C) 1999 Elsevier Science B.V.
KW - Deletion pattern analysis
KW - Duchenne/Becker muscular dystrophy
KW - Dystrophin gene
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U2 - 10.1016/S0960-8966(99)00044-9
DO - 10.1016/S0960-8966(99)00044-9
M3 - Article
C2 - 10619712
AN - SCOPUS:0345580874
SN - 0960-8966
VL - 9
SP - 552
EP - 554
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 8
ER -