+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications



Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications



American Journal of Human Genetics 45(6): 835-847



We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 deletions and 11 duplications could be precisely mapped in relation to both the mRNA and the major and minor mutation hot spots. Junction fragments, ideal markers for carrier detection, were found in 23 (17%) of the 128 cases. We identified eight new cDNA RFLPs within the DMD gene. With the use of cDNA probes we have completed the long-range map of the DMD gene, by the identification of a 680-kb SfiI fragment containing the gene's 3' end. The size of the DMD gene is now determined to be about 2.3 million basepairs. The combination of cDNA hybridizations with long-range analysis of deletion and duplication patients yields a global picture of the exon spacing within the dystrophin gene. The gene shows a large variability of intron size, ranging from only a few kilobases to 160-180 kb for the P20 intron.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 018187188

Download citation: RISBibTeXText

PMID: 2573997


Related references

Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families. Genetics and Molecular Research 7(1): 223-233, 2008

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. Journal of Medical Genetics 33(7): 550-558, 1996

Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. Journal of the Formosan Medical Association 106(5): 339-346, 2007

Denaturing high-performance liquid chromatography coupled with multiplex PCR for rapid detection of large duplications or deletions in patients with Duchenne muscular dystrophy and spinal muscular atrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29(6): 686-689, 2012

Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using cDNA probes and the polymerase chain reaction method. Life Sciences 65(9): 863-869, 1999

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. American Journal of Human Genetics 43(5): 620-629, 1988

Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy. Clinical Genetics 67(2): 189-191, 2005

MAPH detection of deletions/duplications in Duchenne/Becker Muscular Dystrophy An alternative to quantitative Southern blotting. American Journal of Human Genetics 69(4 Suppl.): 640, 2001

Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene. Journal of Medical Genetics 28(3): 167-170, 1991

Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. Clinical Chemistry 50(8): 1435-1438, 2004

Detection of gene deletions by PCR analysis in a Malaysian patient with Duchenne muscular dystrophy. Medical Journal of Malaysia 48(1): 46-50, 1993

Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification. Neurology India 59(6): 803-809, 2012

Analysis of deletions in the dystrophin gene in patients with Duchenne muscular dystrophy in the Bashkir Republic. Genetika 35(4): 551-555, 1999

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec. Human Genetics 89(4): 419-424, 1992

Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA. Clinical Genetics 37(6): 456-462, 1990