Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

M. H. Hofker; A. A. Bergen; M. I. Skraastad; E. Bakker; U. Francke; B. Wieringa; J. Bartley; G. J. van Ommen; P. L. Pearson

doi:https://doi.org/10.1007/BF00282548

Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

M. H. Hofker, A. A. Bergen, M. I. Skraastad, E. Bakker, U. Francke, B. Wieringa, J. Bartley, G. J. van Ommen, P. L. Pearson

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Abstract

We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome, cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy

Original language	English
Pages (from-to)	275-279
Journal	Human genetics
Volume	74
Issue number	3
DOIs	https://doi.org/10.1007/BF00282548
Publication status	Published - 1986

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https://doi.org/10.1007/BF00282548

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@article{7a47e7b59ceb4fb091b42dbd24f905de,

title = "Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy",

abstract = "We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome, cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy",

author = "Hofker, {M. H.} and Bergen, {A. A.} and Skraastad, {M. I.} and E. Bakker and U. Francke and B. Wieringa and J. Bartley and {van Ommen}, {G. J.} and Pearson, {P. L.}",

year = "1986",

doi = "https://doi.org/10.1007/BF00282548",

language = "English",

volume = "74",

pages = "275--279",

journal = "Human genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

number = "3",

}

TY - JOUR

T1 - Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy

AU - Hofker, M. H.

AU - Bergen, A. A.

AU - Skraastad, M. I.

AU - Bakker, E.

AU - Francke, U.

AU - Wieringa, B.

AU - Bartley, J.

AU - van Ommen, G. J.

AU - Pearson, P. L.

PY - 1986

Y1 - 1986

N2 - We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome, cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy

AB - We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome, cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy

U2 - https://doi.org/10.1007/BF00282548

DO - https://doi.org/10.1007/BF00282548

M3 - Article

C2 - 2877936

SN - 0340-6717

VL - 74

SP - 275

EP - 279

JO - Human genetics

JF - Human genetics

IS - 3

ER -