Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

Davies, Kay E.; Pearson, P. L.; Harper, Peter S.; Murray, Jeffrey; O'Brien, TJ; Sarfarazi, Mansoor; Williamson, Robert

doi:10.1093/nar/11.8.2303

Cited by 350 publications

(82 citation statements)

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“…However, the rest of the chromosomes are very small and not readily distinguishable even with G-banding or late-replication banding (26). Silver grain scores over these chromosomes were, therefore, pooled into two classes, class A (chromosomes 7-16 and the unpaired element a, which together constitute 34.3% of the genome) and class B (chromosomes [17][18][19][20][21][22][23] and unpaired elements b, c, and d, which constitute 20.4% of the genome). The necessity of allocating grains to these large classes A or B meant that minor hybridization sites over one of these small chromosomes would be difficult to detect.…”

Section: Methodsmentioning

confidence: 99%

Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal.

Watson

Spencer

Riggs

et al. 1991

Proc. Natl. Acad. Sci. U.S.A.

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To investigate the evolution of the mammalian sex chromosomes, we have compared the gene content of the X chromosomes in the mammalian groups most distantly related to man (marsupials and monotremes). Previous work established that genes on the long arm of the human X chromosome are conserved on the X chromosomes in all mammals, revealing that this region was part of an ancient mammalian X chromosome. However, we now report that several genes located on the short arm of the human X chromosome are absent from the platypus X chromosome, as well as from the marsupial X chromosome. Because monotremes and marsupials diverged independently from eutherian mammals, this finding implies that the whole human X short arm region is a relatively recent addition to the X chromosome in eutherian mammals.

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Section: Methodsmentioning

confidence: 99%

Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal.

Watson

Spencer

Riggs

et al. 1991

Proc. Natl. Acad. Sci. U.S.A.

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“…(2) Where there is a number of affected members in a family, particularly in more than one sibship, serious consideration should be given to typing the kindred as a whole, including relevant spouses and healthy males. Such a family is most likely to provide clear cut predictions for carriers.…”

Section: Dna Markers and Duchenne Muscular Dystrophymentioning

confidence: 99%

DNA markers and Duchenne muscular dystrophy.

Harper¹

1984

Archives of Disease in Childhood

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“…7) Depending on the advancement of molecular genetics, mapping of the gene responsible for DMD was available to band p21 of the short arm of the X chromosome (Xp21). [8][9][10][11] Subsequently, Kunkel's group identified the muscle protein dystrophin which is encoded by the DMD gene. 12) The full-size dystrophin is 427 kDa in molecular mass 12) and its distribution is almost the same in both slow and fast fiber types.…”

Section: Introductionmentioning

confidence: 99%

Female Carriers of Duchenne Muscular Dystrophy

Cho

Choi

2013

J Genet Med

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males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers.1, 2, 4) Therefore, here we reviewed recent studies to meet the need for a better understanding about the characterization of female carriers of DMD. What is dystrophinopathies?Duchenne's description of DMD was published in 1861. He referred to the disease as "hypertrophic paraplegia of infancy due to a cerebral cause". IntroductionDuchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy. The milder form of this disease is called Becker muscular dystrophy(BMD).1) The disorder is also called dystrophinopathy because it caused by mutations in the DMD gene, which encodes dystrophin, on Xp21.2) Most heterozygous female carriers of DMD are subclinical. Therefore, identification of dystrophinopathy carriers may be only con sidered on clinical grounds such as clear X-linked family history of muscular dystrophy. However, myopathic muscle biopsy and advanced molecular diagnostic analysis can be used to identify the carrier state of DMD without a positive family history of dystrophinopathy , which is present in 10% of women with hyperCKemia.3) In addition, two-thirds of mothers of affected www.e-kjgm.org Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

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Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

Cited by 350 publications

References 20 publications

Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal.

Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal.

DNA markers and Duchenne muscular dystrophy.

Female Carriers of Duchenne Muscular Dystrophy

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