2 edition of Molecular analysis of X-autosome translocations in females with muscular dystrophy. found in the catalog.
Molecular analysis of X-autosome translocations in females with muscular dystrophy.
Sharon Elizabeth.* Bodrug
Written in English
|The Physical Object|
|Number of Pages||149|
The parental origin of 3 de novo X-autosome translocations in females with Duchenne Muscular Dystrophy (DMD) was studied by means of methylation analysis using the X-linked probe :// X;autosome translocations in females with Duchenne muscular dystrophy (DMD) provide an opportunity to study the mechanisms responsible for chromosomal rearrangements that occur in the germ ://
Molecular analysis of Duchenne and Becker muscular dystrophy Molecular analysis of Duchenne and Becker muscular dystrophy Worton, Ronald G. Molecular Analysis of Duchenne and Becker Muscular Dystrophy Ronald Summary Duchenne muscular dystrophy (DMD) is a progressive and lethal neuromuscular disorder caused by a defective gene on the X :// Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder which affects approximately 1 in 3, males, making it the most common of the neuromuscular dystrophies (see ref. 1 for review)
RFLP analysis of the patient, her parents, and the hybrid cell lines showed that the translocation originated in the paternal genome. This brings to six out of six the number of DMD gene translocations of paternal origin, a fact that may be an important clue in future studies of the mechanism by which X;autosome translocations :// S E Bodrug's 13 research works with citations and reads, including: Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4qqter
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Descendants of John & Mary Cole Garner
History of the Commune of 1871
roots of American culture and other essays.
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Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet. ; 48 (1)– Robinson DO, Boyd Y, Cockburn D, Collinson MN, Craig I, Jacobs PA. The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation :// Molecular analysis of X‐autosome translocations in females with Duchenne muscular dystrophy.
S.E. Bodrug Genetics Department, Hospital for Sick Children, Toronto, Ontario, :// Twenty known cases of X;autosome translocations with breakpoints at Xp21 associated with Duchenne or Becker muscular dystrophy in girls are reviewed. The variable severity described for different persons may reflect differences in X inactivation or in the nature of the genomic target :// X;autosome translocations in females with Duchenne or Becker muscular dystrophy VICTOR DUBOWITZ 1 Nature volumepages – () Cite this article?error=cookies_not_supported&code=60df8be5.
Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. the translocation breakpoints of two X-autosome translocations carried by females with Duchenne or Becker muscular dystrophy have been mapped, cloned and sequenced.
Breakpoints were mapped to specific introns within the dystrophin gene and intron Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy.
EMBO J. Dec; 10 (12)– [PMC free article] Bodrug SE, Ray PN, Gonzalez IL, Schmickel RD, Sylvester JE, Worton RG. Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.
:// The parental origin of 3 de novo X-autosome translocations in females with Duchenne Muscular Dystrophy (DMD) was studied by means of methylation analysis using the X-linked probe M27 beta. In all three the translocation was found to be paternal in :// There are rare female patients who suffer from Duchenne or Becker muscular dystrophy because they carry an X;autosome translocation with a breakpoint in the dystrophin gene.
We have defined the positions of seven of these breakpoints with respect to exon-containing HindIII fragments detected by dystrophin cDNA. One breakpoint lies between exon-containing Hindlll fragments 7 and 8, five There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis.
At birth, she was found to have a raised CK level, consistent with a diagnosis of Duchenne muscular :// The chromosomes of a male patient who suffers from Duchenne muscular dystrophy (DMD) with a molecular deletion were examined with an improved high resolution R type replication banding technique.
High resolution cytogenetic analysis of the proband revealed a deletion of the Xp :// Muscular dystrophy in girls with X;autosome translocations Article (PDF Available) in Journal of Medical Genetics 23(6) January with 42 Reads How we measure 'reads' Abstract.
The polymerase chain reaction (PCR) is used for selective amplification of DNA fragments from both prokaryotes and eukaryotes (1–3). The only requirement for amplification is that the sequence of the extremities of the DNA fragment to be amplified be known ().This places a limitation on the use of PCR in the amplification of adjacent unknown :// Duchenne/Becker Muscular Dystrophy.
Duchenne muscular dystrophy (DMD) and the clinically milder Becker muscular dystrophy (BMD) are the most common muscular dystrophies, affecting approximately 1 in males. The disorder results from mutations in DMD, a gene located at Xp21 spanning million base pairs that encodes the protein :// /duchenne-muscular-dystrophy.
Bodrug SE, Holden JJ, Ray PN, Worton RG. Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J. Dec; 10 (12)– [PMC free article] Bodrug SE, Roberson JR, Weiss L, Ray PN, Worton RG, Van Dyke :// The X-linked gene responsible for Duchenne muscular dystrophy encodes dystrophin, a high-molecular-weight cytoskeletal protein.
Studies in several laboratories have revealed deletion of one or more exons in 60% of affected boys; quantitative analysis in our laboratory has detected duplication of exons in another 6%.
The severe Duchenne phenotype is associated with deletions or duplications The X-linked nature of Duchenne muscular dystrophy was apparent from the earliest clinical studies (Gowers, ), as was the case for the milder disorder recognized by Becker and Kiener () and now known as Becker muscular summarizes some of the relevant facts resulting from these early studies, in particular those relating to carrier :// origin, and association with muscular dystrophy S E Bodrug, J R Roberson, L Weiss, P N Ray, R G Worton, D L Van Dyke Abstract There are 23 females known with Duchenne or Becker muscular dystrophy (DMDor BMD)who haveX;autosome translocations that disrupt the X chromosome within band p A female with a t(X;4)(p21;q35) translocation was usual feature in females with balanced X;autosome translocations.9 10 It is presumed that cells with inactive translocation chromosomes are at a selec-tive disadvantage, as the inactivation of the X portion may spread to the adjacent autosomal regions There are now 14 published cases of Received for publication 23 July Accepted for X;autosome translocations in females with Duchenne muscular dystrophy (DMD) provide an opportunity to study the mechanisms responsible for chromosomal rearrangements that occur in the germ line.
We describe here a detailed molecular analysis of the translocation breakpoints of an X;autosome reciprocal translocation, t(X;5)(p21;q), in a Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis Introduction Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder affecting 1 in newborn males (for review see Moser, ).
clues to the localization of the disease locus came from the observation that females. X inactivation analysis was performed on normal and hypopigmented skin samples obtained from a female with hypomelanosis of Ito associated with a balanced whole arm X;17 translocation.
Severe skewing of X inactivation resulting in inactivity of the intact X was found in blood and cultures of both types of skin, but analysis of DNA prepared directly from hypopigmented skin showed significant Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X ://SummaryTo define the principal characteristics of X-autosome translocations, the authors present a study of cases, five of which are personal observations.
The autosomal pa 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected ://: Cytogenetic-and-their.