Title
Regional mapping of a liver alpha-subunit gene of phosphorylase-kinase (phka) to the distal region of human chromosome-xp Regional mapping of a liver alpha-subunit gene of phosphorylase-kinase (phka) to the distal region of human chromosome-xp
Author
Publication type
article
Publication
Basel ,
Subject
Biology
Human medicine
Source (journal)
Cytogenetics and cell genetics. - Basel, 1973 - 2001
Volume/pages
60() :3-4 , p. 194-196
ISSN
0301-0171
ISI
A1992JK23000030
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
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.
E-info
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