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

Previously we estimated that about 2.5-4% of isolated male patients diagnosed as Duchenne dystrophy (DMD) may have the autosomal recessive form (AR-DMD). Such cases can be distinguished from X-linked DMD through the analysis of dystrophin. Fifty DMD patients from 47 families were investigated for dystrophin and DNA deletions. Based on our results, we estimate that the frequency of AR-DMD may be about 8-12% among male patients diagnosed as DMD in whom X-linked inheritance could not be confirmed through pedigree data, serum enzymes in female relatives or DNA studies. Such an estimate must be confirmed in a larger sample; however, it shows the importance of assessing dystrophin in all patients diagnosed as DMD in whom X-linked inheritance cannot be proved, since the distinction between these 2 forms has implications for genetic counseling.
 ...
PMID:Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. 186 62

Immunoreactivity for the intermediate filament proteins vimentin and desmin was studied in muscle biopsies of 33 children with neuromuscular diseases and in postmortem muscle of 15 fetuses and neonates at 8-42 weeks gestation. Fetal myotubes exhibited strong reactions for vimentin and desmin; reactivity was still present, though weaker, by 31 weeks and was no longer demonstrable at term. In X-linked myotubular myopathy (5 cases) myofibres showed strong reactivity for both vimentin and desmin; in myotonic dystrophy desmin but not vimentin had strong reactivity in myofibres of neonates and children. A similar but much weaker pattern of desmin reactivity was seen in nemaline rod disease and in congenital muscle fibre-type disproportion. The small myofibres in spinal muscular atrophy were reactive for both vimentin and desmin, as were regenerating myofibres in Duchenne muscular dystrophy and dermatomyositis. Acridine orange fluorochrome distinguished vimentin/desmin-reactive myofibres that were regenerating from those of developmental myopathies because the RNA fluorescence was strong in regenerating myofibres and in fetal myotubes, but was absent from myofibres in developmental disorders of muscle. A failure to regress of fetal cytoskeletal proteins may contribute to the apparent arrest in morphogenesis of myofibres. These stains are useful in studying the muscle biopsies of children with developmental myopathies because they demonstrate an aspect of muscle maturation not detected by standard histochemical methods.
 ...
PMID:Vimentin/desmin immunoreactivity of myofibres in developmental myopathies. 195 50

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic X-linked progressive neuromuscular diseases. We have collected 25 Chinese families each with at least one DMD/BMD patient for DNA analysis in the Xp21 region. Eight genomic probes, 6 within and 2 flanking the DMD gene, and 7 restriction enzymes were used to detect 9 restriction fragment length polymorphisms (RFLPs): C7-EcoRV, J-Bir-BamHI, pERT87-30-BglII, pERT87-15-BamHI, pERT87-15-XmnI, pERT87-1-XmnI, XJ1.1-TaqI, XJ5.1-SphI, and 754-PstI. From analysis of unrelated subjects, we found that the 4 most informative RFLPs in the linkage study were pERT87-15-XmnI, pERT87-1-XmnI, XJ5.1-SphI and J-Bir-BamHI. Two flanking markers, C7 and 754, were noninformative in most families. Three families (12%) had gene deletion: family M-25 at pERT87-1 to 87-30; M-105 at XJ 5.1, 1.1, pERT87-1, and 87-15; and M-110 at XJ5.1, 1.1, and pERT87-1 to 87-30. Two recombinations were detected: M-10 between C7 and pERT87-15; and M-39 between J-Bir and pERT87-15. In the 25 mothers with affected sons, 2 had gene deletion, 1 was homozygous at all 9 polymorphic loci and the other 22 were heterozygous at more than one locus. Twenty-four at-risk female siblings were studied for carriership. Nine were classified as at high risk of carriership, 13 at low risk of carriership by haplotyping, and the remaining two were uncertain, with one due to recombination and the other to maternal homozygous haplotypes. Gene deletion and RFLP analysis are very useful in genetic counseling of Chinese DMD/BMD.
 ...
PMID:Molecular analysis of 25 Chinese families with Duchenne/Becker muscular dystrophy. 198 71

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.
 ...
PMID:Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 199 33

The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies. Thus, we tested, through linkage analysis, if 6q probes flanking the dystrophin-homologous sequence are linked to the gene responsible for limb-girdle dystrophy (LGMD). A total of 226 individuals (57 patients and 169 unaffected relatives) from 19 large unrelated Brazilian families was studied. Results of two-point analysis excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10 and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene is not in the 6q23-q27 region. Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.
 ...
PMID:Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. 201 26

In 1989 we are continuing to move gene diagnosis over to the direct detection mode. We have sickle cell anemia, alpha-thalassemia, beta-thalassemia, Duchenne muscular dystrophy, Becker muscular dystrophy and cystic fibrosis moved to direct detection with hemophilia B and alpha-1-antitrypsin deficiency soon to be there. For indirect detection, we still have hemophilia A, and a comment on the genetics of hemophilia A is important. Remember that sickle cell anemia is caused by one mutation, while beta-thalassemia and cystic fibrosis have a finite number of alleles. Duchenne muscular dystrophy results from a different mutation for every affected individual, but most of these are deletions and can be directly detected. Hemophilia A is another X-linked disorder with almost every affected individual having a different mutation. That means that there probably are 100 ways to get beta-thalassemia and about 10,000 ways to get hemophilia A, so we need some really good novel techniques to detect these directly, and we are working hard on such techniques. I would not be surprised if hemophilia A moved into the direct detection category in the next year or so. We need to find the Huntington disease gene, and then it will move into the direct detection column. Neurofibromatosis is still in the indirect detection group but also may move very soon. Polycystic kidney disease is also still in the indirect detection column. This summarizes where prenatal and presymptomatic gene diagnosis stands in late 1989.
 ...
PMID:Current status of prenatal diagnosis by DNA analysis. 209 48

Quantification of the Hoechst and chromomycin A3 fluorescence intensities of mitotic human chromosomes isolated from karyotypically normal and abnormal cells was performed with a dual beam flow cytometer. The resultant flow karyotypes contain information about the relative DNA content and base composition of chromosomes and their relative frequencies in the mitotic cell sample. The relative copy number of X and Y chromosomes was determined for 38 normal males and females and 6 cell lines with X or Y chromosome aneuploidy. Flow karyotype diagnoses corresponded with conventional cytogenetic results in all cases. We show that chromosome DNA content can be derived from peak position in Hoechst vs. chromomycin flow karyotypes. These values are linearly related to propidium iodide staining intensity as measured with flow cytometry and to the binding of gallocyanin chrome alum to phosphate groups as measured with slide-based scanning photometry. Cell lines with deleted or dicentric X chromosomes ranging in length from 0.53 to 1.95 times normal were analyzed by using flow cytometry. The measured difference in DNA content between a normal X and each of the structurally abnormal chromosomes was linearly correlated to the difference predicted from cytogenetics and/or probe analyses. Deletions of 3-5 Mb, which were at and below the detection limits of conventional cytogenetics, could be quantified by flow karyotyping in individuals with X-linked diseases such as Duchenne muscular dystrophy, choroideremia, and ocular albinism/ichthyosis. The results show that the use of flow karyotyping to quantify the size of restricted regions of the genome can complement conventional cytogenetics and other physical mapping techniques in the study of genetic disorders.
 ...
PMID:Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. 210 19

The mdx mouse is an animal model for X-linked Duchenne muscular dystrophy. A polyclonal antibody against a synthetic peptide IV equivalent to the C-terminal portion (amino acids 3495-3544) of dystrophin crossreacted with a 400 kDa protein in the brain and the spinal cord of mdx mouse, as well as in the control B10 mouse. However, the protein did not crossreact with the polyclonal antibody raised against the N-terminal portion of dystrophin peptide I (amino acids 215-264). Immunofluorescent micrography revealed that the outside of the small arteries and the pia mater of the brain strongly reacted with the anti-peptide IV antibody. These results strongly suggest the presence of a crossreactive protein other than dystrophin, possibly a dystrophin-related autosomal gene product, in the pia mater.
 ...
PMID:Antibody against the C-terminal portion of dystrophin crossreacts with the 400 kDa protein in the pia mater of dystrophin-deficient mdx mouse brain. 219 22

Aland Island Eye Disease (AIED) is an X-linked form of ocular hypopigmentation--also known as Forsius-Eriksson, or type 2, ocular albinism--in which affected males demonstrate subnormal visual acuity, protanomalous red-green colorblindness, axial myopia, astigmatism, hypoplasia of the fovea, and hypopigmentation of the fundus. A patient has previously been described who, in addition to AIED, manifested a contiguous gene syndrome which included congenital adrenal hypoplasia (AHC), glycerol kinase deficiency (GKD), and Duchenne muscular dystrophy (DMD). In the present paper report we report the molecular genetic analysis of his deletion. Initially, multiplex polymerase-chain-reaction amplification was used to screen for a DMD-locus deletion which was then further characterized, using DMD cDNA and genomic probes, via Southern blot analysis. The deletion includes the region encompassed by probes C7 (DXS28) and DMD cDNA 8. Probes B24 (DXS67) and DMD cDNA 5b-7 show normal hybridization patterns and appear to flank the deletion, while the DMD cDNA 8 detects a junction fragment. Molecular genetic techniques have mapped the deletion in this patient to the subbands Xp21.3-21.2, between DXS67 and DMD.
 ...
PMID:Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. 222 Aug 19

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 origin. The parental origin of X-autosome translocations in females with and without DMD is compared with other structural abnormalities of the X and with autosomal translocations.
 ...
PMID:The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis. 227 3


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>