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Title
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Regional mapping of a liver alpha-subunit gene of phosphorylase-kinase (phka) to the distal region of human chromosome-xp
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Author
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Abstract
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| X-linked liver glycogenosis (XLG) is a glycogen storage disorder resulting from deficient activity of phosphorylase kinase (PHK). PHK consists of four different subunits: (alpha, beta, gamma, and delta. Several genes encoding PHK subunits have been cloned and localized, but only the muscle alpha-subunit (PHKA) gene has been assigned to the X chromosome, in the region Xq12-->q13. However, we have previously excluded the muscle PHKA gene as a candidate gene for the XLG mutation, as linkage analysis indicated that the mutation responsible for XLG is located in Xp22 and not in Xq12-->q13. We report here the chromosomal localization by in situ hybridization of a liver PHKA gene to the distal region of chromosome Xp. Strong hybridization signals were observed on the distal part of the short arm of a chromosome identified as the X chromosome by cohybridization with an X chromosome-specific centromeric probe. The localization of this gene in the same chromosomal region as the disease gene responsible for XLG suggests that the liver PHKA gene is a highly likely candidate gene for the XLG mutation. |
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Language
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English
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Source (journal)
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Cytogenetics and cell genetics. - Basel, 1973 - 2001
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Publication
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Basel
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1992
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ISSN
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0301-0171
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DOI
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10.1159/000133334
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Volume/pages
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60
:3-4
, p. 194-196
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ISI
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A1992JK23000030
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Full text (Publisher's DOI)
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