Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

Warren G. Sanger; Helen L. Grierson; James Skare; Herman Wyandt; Samuel Pirruccello; Renee Fordyce; David T. Purtilo

doi:10.1016/0165-4608(90)90026-7

Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

Warren G. Sanger, Helen L. Grierson, James Skare, Herman Wyandt, Samuel Pirruccello, Renee Fordyce, David T. Purtilo

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.

Original language	English (US)
Pages (from-to)	163-169
Number of pages	7
Journal	Cancer genetics and cytogenetics
Volume	47
Issue number	2
DOIs	https://doi.org/10.1016/0165-4608(90)90026-7
State	Published - Jul 15 1990

ASJC Scopus subject areas

Molecular Biology
Genetics
Cancer Research

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title = "Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)",

abstract = "X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.",

author = "Sanger, {Warren G.} and Grierson, {Helen L.} and James Skare and Herman Wyandt and Samuel Pirruccello and Renee Fordyce and Purtilo, {David T.}",

note = "Funding Information: This work was supported in part by PH5 CA30196 and CA36727, awarded by the National Cancer Institute, DHHS, and the Lymphoproliferative Research Fund.",

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doi = "10.1016/0165-4608(90)90026-7",

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T1 - Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

AU - Sanger, Warren G.

AU - Grierson, Helen L.

AU - Skare, James

AU - Wyandt, Herman

AU - Pirruccello, Samuel

AU - Fordyce, Renee

AU - Purtilo, David T.

N1 - Funding Information: This work was supported in part by PH5 CA30196 and CA36727, awarded by the National Cancer Institute, DHHS, and the Lymphoproliferative Research Fund.

PY - 1990/7/15

Y1 - 1990/7/15

N2 - X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.

AB - X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.

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Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

Abstract

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