Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The analysis of linkage data with multiple markers is a complex problem, only soluble with the help of computer programs. A package of programs is presented which allows the analysis of X-linked data with reasonable speed. Published data relating Duchenne muscular dystrophy and seven X-specific DNA probes are analysed. The results presented are the maximum likelihoods of the eight possible orders and the interlocus distances of the most likely order. Also calculated are the mean and standard deviation of risk for selected cases with information derived from both single probes and pair of probes bridging the disease locus.
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PMID:A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes. 345 66

We previously proposed the hypothesis that the primary expression of the defect in X-linked Duchenne muscular dystrophy (DMD) occurred in the myoblast, or muscle precursor cell. This was based on the observation that the number of viable myoblasts obtained per gram DMD muscle tissue was greatly reduced and those that grew in culture had decreased proliferative capacity and an aberrant distended flat morphology. Here we test that hypothesis by determining whether the expression of the myoblast defect is X-linked. Muscle cells were obtained from five doubly heterozygous carriers of two X-linked loci, DMD and glucose-6-phosphate dehydrogenase (G6PD), and compared with those from five sex- and age-matched controls heterozygous for G6PD only. A total of 1,355 individual clones were determined to be muscle and evaluated at the single cell level for proliferative capacity, morphology, and G6PD isozyme expression. The results demonstrate that the proportion of defective myoblast clones is significantly increased in DMD carriers. However, since this cellular defect does not consistently segregate with a single G6PD phenotype in the myoblast clones derived from any of the carriers, it is unlikely to be the primary expression of the DMD mutant allele.
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PMID:The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation. Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD. 346 32

We have searched for linkage between polymorphic loci defined by DNA markers on the X chromosome and X-linked Emery-Dreifuss muscular dystrophy (EDMD). There are high recombination rates between EDMD and the Xp loci known to be linked to Becker and Duchenne muscular dystrophy. There is a suggestion of linkage between EDMD and the loci DXS52 and DXS15, defined by probes St14 and DX13 respectively, located at Xq28. Z for DXS15 = 1.14 at theta = 0.15. This is in agreement with the previously reported linkage between a disorder strongly resembling EDMD and colour-blindness (Thomas et al. 1972), suggesting that there is a second locus on the X chromosome concerned with muscle integrity.
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PMID:A linkage study of Emery-Dreifuss muscular dystrophy. 346 53

To evaluate malignant hyperthermia (MH) susceptibility in X-linked muscular dystrophies, halothane and caffeine contracture tests were performed on muscle fiber bundles from five patients with Duchenne muscular dystrophy (DMD) and two patients with Becker muscular dystrophy (BMD). Two DMD patients and one BMD patient had positive contracture tests. Since a positive contracture test is currently the best indicator of anesthetic susceptibility in the MH population, and episodes of MH in dystrophic patients have been reported, patients with DMD and BMD may be at risk for developing similar anesthetic complications. Awareness of this potential anesthetic risk is of importance because orthopedic interventions are increasingly more common in these patients.
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PMID:Malignant hyperthermia susceptibility in X-linked muscle dystrophies. 350 9

To test the hypothesis that the Duchenne muscular dystrophy gene limits the proliferation of myoblasts, we studied myoblasts from a woman who was a carrier of the Duchenne gene and also heterozygous for glucose-6-phosphate dehydrogenase (G6PD), an X-linked enzyme. G6PD-A and G6PD-B cells did not differ in proliferative capacity, implying no difference in proliferative capacity of cells bearing the Duchenne gene or the normal allele.
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PMID:Comparison of Duchenne and normal myoblasts from a heterozygote. 356 79

A series of 95 families, consisting of 317 patients with severe and mild X-linked proximal pseudohypertrophic muscular dystrophy (MD), was analysed by the use of two different and rigid clinical criteria based on the age when the patient became chairbound. Using these criteria the families from Erfurt and Warsaw could be clearly separated into classical Duchenne (DMD) and classical Becker (BMD) type patients. A third group of patients was found with atypical clinical course, who could not be identified as neither Duchenne nor Becker cases. Statistically highly significant differences were found between the groups of classical DMD and atypical MD cases on the one hand and between the groups of atypical MD and classical BMD cases on the other, especially with respect to age when chairbound and age at death. The comparisons of progression of the disease, life expectancy and of fertility between the three groups of X-linked MD show that classical DMD and atypical MD may be considered as separate types of severe X-linked proximal pseudohypertrophic MD. On the basis of these findings the authors offer conclusions for the general practice of neurology, paediatrics and genetic counseling.
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PMID:Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy. 358 25

The recent discovery of sequences at the site of the Duchenne muscular dystrophy (DMD) gene in humans has opened up the possibility of a detailed molecular analysis of the genes in humans and in related mammalian species. Until relatively recently, there was no obvious mouse model of this genetic disease for the development of therapeutic strategies. The identification of a mouse X-linked mutant showing muscular dystrophy, mdx, has provided a candidate mouse genetic homologue to the DMD locus; the relatively mild pathological features of mdx suggest it may have more in common with mutations of the Becker muscular dystrophy type at the same human locus, however. But the close genetic linkage of mdx to G6PD and Hprt on the mouse X chromosome, coupled with its comparatively mild pathology, have suggested that the mdx mutation may instead correspond to Emery Dreifuss muscular dystrophy which itself is closely linked to DNA markers at Xq28-qter in the region of G6PD on the human X chromosome. Using an interspecific mouse domesticus/spretus cross, segregating for a variety of markers on the mouse X chromosome, we have positioned on the mouse X chromosome sequences homologous to a DMD cDNA clone. These sequences map provocatively close to the mdx mutation and unexpectedly distant from sparse fur, spf, the mouse homologue of OTC (ornithine transcarbamylase) which is closely linked to DMD on the human X chromosome.
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PMID:The mapping of a cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome. 360 Jul 93

Recent progress has resulted in part of the gene mutated in Duchenne and the milder Becker muscular dystrophies being cloned and has suggested that the gene itself extends over 1,000 to 2,000 kilobases (kb). To study how mutations in this gene affect muscle development and integrity, it would be of interest to have available a mouse model of the human disease. The mouse mdx mutation affects muscle and confers a mild dystrophic syndrome, but it is not clear whether this mutation is equivalent to Duchenne/Becker muscular dystrophy in man. Here we describe the use of two sequences from the human Duchenne muscular dystrophy (DMD) gene that cross-hybridize to mouse X-linked sequences to localize the gene homologous to DMD in the mouse. Both sequences map to the region of 10 centimorgan lying between the Tabby (Ta) and St14-1 (DxPas8) loci, close to the phosphorylase b kinase locus (Phk). By analogy with the human X-chromosome, we conclude that the region in the mouse around the G6pd and St14-1 loci may contain two genes corresponding to distinct human myopathies: Emery Dreifuss muscular dystrophy which is known to be closely linked to St14-1 in man and the DMD homologue described here.
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PMID:Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. 360 Jul 94

Duchenne muscular dystrophy (DMD) is the most common of the muscular dystrophies affecting one in 3,000 live male births. Both DMD and the mild form, Becker muscular dystrophy (BMD), are X-linked. There are a number of females affected by the disease who all possess an X-autosome translocation, with the exchange point in the X always occurring within chromosome band Xp21. This, together with linkage and deletion data, has localized the gene at band Xp21. DNA fragments from this region have been cloned using a patient with a large Xp21 deletion and from a patient with a t(X:21) translocation. The former clones (pERT 87) comprise the DXS164 locus and the latter clones (XJ) the DXS206 locus. Subclones from both regions allow the detection of deletions in approximately 11% of DMD patients. A fetal muscle complementary DNA clone corresponding to exons in the DXS164 locus has been isolated and detects a 16-kilobase (kb) transcript. We present the isolation of an adult muscle cDNA clone from the DXS206 locus that detects a 16-kb mRNA in adult human muscle. The cDNA clone contains exons that map in the DXS206 locus, the DXS164 locus, and on the centromeric side of these cloned regions. The t(X;21) translocation exchange points occurs within a large intron of 105 kb or larger, indicating that the translocation has disrupted the DMD/BMD gene to cause the disease in this patient.
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PMID:A cDNA clone from the Duchenne/Becker muscular dystrophy gene. 361 47

The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.
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PMID:Duchenne muscular dystrophy in a 46 XY female. 369 49


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