Abstract
A polymorphic complex repeat including two (TG)n stretches was identified in the intron following codon 26 of the human gene encoding the muscle isoform of the phosphorylase kinase alpha subunit (PHKA1). It should be a useful marker for linkage analysis of families with heritable phosphorylase kinase deficiency and for gene mapping in the vicinity of the X inactivation center.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Alleles
-
Base Sequence
-
Gene Frequency
-
Glycogen Storage Disease / genetics*
-
Humans
-
Introns
-
Isoenzymes / genetics
-
Molecular Sequence Data
-
Mutation
-
Phosphorylase Kinase / deficiency
-
Phosphorylase Kinase / genetics*
-
Polymorphism, Genetic / genetics*
-
Repetitive Sequences, Nucleic Acid*
-
X Chromosome*
Substances
-
Isoenzymes
-
Phosphorylase Kinase