Report of the committee on the genetic constitution of the X and Y chromosomes

Oj, Miller; Siniscalco, M.

doi:10.1159/000131697

Cited by 15 publications

(1 citation statement)

References 8 publications

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“…The X-linkage of the mdx muscle pathology on the short arm of the X-chromosome (Bulfield et al, 1984) is similar to the genetic focus of Duchenne dystrophy on the human X-chromosome (Miller and Siniscalo, 1982). This feature and the adequate reproductive capability of rndx mice in the absence of obvious clinical handicaps also suggest the applicability of the model to the study of human disease, although the divergent clinical patterns again caution against rigorous parallels.…”

Section: Discussionmentioning

confidence: 78%

Electron microscopic and autoradiographic characterization of hindlimb muscle regeneration in the mdx mouse

1987

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The pattern of postnatal growth and development of skeletal muscle in mdx mice was studied by light and transmission electron microscopy and by autoradiography and was compared with that in their normal age-matched controls at 4 and 32 weeks of age. The muscle weights of both the extensor digitorum longus (EDL) and soleus muscles of mdx mice were significantly greater than those in control mice at both ages. Body weights of male and female mdx mice were also increased over controls up to 12 weeks of age. At 4 weeks, both the EDL and soleus muscles exhibited focal areas of degeneration, necrosis, and regeneration of centrally nucleated extrafusal fibers resulting in a wide range of fiber sizes. By 32 weeks, the majority of fibers in both muscles were centrally nucleated, and focal areas of recent regeneration were observed. By electron microscopy, the course of macrophage infiltration into areas of degenerating fibers and the ongoing regeneration of myofibers within redundant cylinders of external lamina were noted. This pattern was frequent in 4-week-old mdx muscles and was present to a lesser degree at 32 weeks. A notable lack of both adipose tissue infiltration and fibrotic change in the endomysium were observed in muscles at both ages. Autoradiograms of muscles from 4-week-old mdx mice injected with tritiated thymidine showed an increased proportion of labeled sublaminal nuclei at 24 and 48 hours after injection compared to controls. At 32 weeks of age, labeling of nuclei in muscles of mdx mice was also greater than in controls, but was reduced compared to muscle labeling in 4-week-old mdx mice. The observed features of mdx muscle tissue suggest that this animal model is more applicable to the study of regeneration dynamics than to Duchenne-type human muscular dystrophy.

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Section: Discussionmentioning

confidence: 78%

Electron microscopic and autoradiographic characterization of hindlimb muscle regeneration in the mdx mouse

1987

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DNA techniques in prenatal diagnosis and in genetic pathology

Rehder

Friedrich

Opitz³

et al. 1987

Am. J. Med. Genet.

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New molecular techniques concerned with the isolation and identification of DNA fragments can be used for carrier detection and early prenatal diagnosis either by direct detection of the mutant DNA sequence or by indirect linkage studies employing RFLPs as DNA markers. Gene specific DNA probes are available already for a number of genetic disorders, such as the hemoglobinopathies, hemophilia A and B, α1‐antitrypsin deficiency, phenylketonuria, and chronic granulomatous disease. Coinheritance of DNA‐polymorphisms can be traced, eg, for Norrie disease, myotonic dystrophy, Duchenne and Becker muscular dystrophies, and Huntington chorea. Several genes have been localized successfully to specific chromosome regions. By “walking” or “jumping” along the chromosome, it is hoped finally to reach further gene loci of interest, to analyze the molecular pathology of single gene disorders, and to find new ways for their prevention.

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X-linked Genes and Gonadal Differentiation

Wolf¹

1983

Mechanisms of Gonadal Differentiation in Vertebrates

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Report of the committee on the genetic constitution of the X and Y chromosomes

Cited by 15 publications

References 8 publications

Electron microscopic and autoradiographic characterization of hindlimb muscle regeneration in the mdx mouse

Electron microscopic and autoradiographic characterization of hindlimb muscle regeneration in the mdx mouse

DNA techniques in prenatal diagnosis and in genetic pathology

X-linked Genes and Gonadal Differentiation

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