A STUDY ON DUPLICATIONS OF THE DYSTROPHIN GENE - EVIDENCE OF A GEOGRAPHICAL DIFFERENCE IN THE DISTRIBUTION OF BREAKPOINTS BY INTRON

被引:15
作者
GALVAGNI, F
SAAD, FA
DANIELI, GA
MIORIN, M
VITIELLO, L
MOSTACCIUOLO, ML
ANGELINI, C
机构
[1] UNIV PADUA, DEPT BIOL, I-35121 PADUA, ITALY
[2] UNIV PADUA, DEPT NEUROL, I-35121 PADUA, ITALY
关键词
D O I
10.1007/BF02272848
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Starting from a group of 265 Italian patients affected with Duchenne or Becker muscular dystrophy a screening for duplications in the dystrophin gene was performed on 112 cases in which no deletions had previously been detected. The 21 intragenic duplications detected account for 7.9% of the total. Among these, one duplication including exons from 3 to 43 is the largest reported so far. Data from this study were combined with those from the literature and breakpoint distribution by intron was analysed. In general breakpoints occur mostly in the proximal third of the gene, in particular in intron 7. However, both the frequency of duplications and the distribution of breakpoints by intron are different in the Japanese sample compared with the other groups of patients. The role of geographical differentiation of intron sequences by genetic drift and of transposon-like sequences in explaining these differences is discussed.
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页码:83 / 87
页数:5
相关论文
共 16 条
[1]  
BEGGS AH, 1991, AM J HUM GENET, V49, P54
[2]  
BETTECKEN T, 1991, INT CONGR SER, V934, P77
[3]   ANALYSIS OF SCOTTISH DUCHENNE AND BECKER MUSCULAR-DYSTROPHY FAMILIES WITH DYSTROPHIN CDNA PROBES [J].
COOKE, A ;
LANYON, WG ;
WILCOX, DE ;
DORNAN, ES ;
KATAKI, A ;
GILLARD, EF ;
MCWHINNIE, AJM ;
MORRIS, A ;
FERGUSONSMITH, MA ;
CONNOR, JM .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (05) :292-297
[4]  
COOPER DN, 1993, HUMAN GENE MUTATION, P219
[5]  
DANIELI GA, 1993, HUM GENET, V91, P342
[6]  
DENDUNNEN JT, 1989, AM J HUM GENET, V45, P835
[7]  
GITSCHIER J, 1988, AM J HUM GENET, V43, P274
[8]   QUANTITATIVE SOUTHERN BLOT ANALYSIS IN THE DYSTROPHIN GENE OF JAPANESE PATIENTS WITH DUCHENNE OR BECKER MUSCULAR-DYSTROPHY - A HIGH-FREQUENCY OF DUPLICATIONS [J].
HIRAISHI, Y ;
KATO, S ;
ISHIHARA, T ;
TAKANO, T .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (12) :897-901
[9]   DETECTION OF PARTIAL DELETION AND PARTIAL DUPLICATION OF DYSTROPHIN GENE IN JAPANESE PATIENTS WITH DUCHENNE OR BECKER MUSCULAR-DYSTROPHY [J].
HIYAMA, K ;
KODAIRA, M ;
SATOH, C ;
KARAKAWA, T ;
KAMEO, H ;
YAMAKIDO, M .
JAPANESE JOURNAL OF HUMAN GENETICS, 1993, 38 (02) :169-176
[10]  
HU XY, 1990, AM J HUM GENET, V46, P682