Regional mapping of a liver α-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp

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: α, β, γ, and δ. Several genes encoding PHK subunits have been cloned and localized, but only the muscle α-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.

Molecular and clinical examination of an Italian DEFECT 11 family

“…Fluorescence in situ hybridisation was performed as described previously 25 with the EXT2 cDNA probe yf69b06, P1 clones ICRFP700M1637 (D11S578) and ICRFP700O1366 (D11S1393) and cosmids cCI11-540 (D11S2095) and cCI11-388 (D11S554). All probes were previously mapped to the pericentromeric region of chromosome 11.…”

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

“…FISH of metaphase chromosomes from the index-patient using biotinylated cosmid probes cCI5-13 (5q15) (A: deleted) and cCI5-18 (5q31.3-32) (B: not deleted). The fluorescence signals (biotin/fluorescein isothiocyanate) were detected as reported [Wauters et al, 1992]. least 40 families with more than 120 affected members have been reported to date [Ramos Arroyo et al, 1985;Bistritzer et al, 1993;Viljoen et al,1991;Viljoen, 1994].…”

“…FISH was performed on skin fibroblasts according to Wauters et al [1992]. The following DNA probes were used for the analysis of the interstitial chromosome 5q deletion in the proband: cCI5-2, cCI5-9, cCI5-13, cCI5-16, cCI5-18, cCI5-23, cCI5-56, cCI5-116, cCI5-159, cCI5-213, cCI5-222 [Takahashi et al,1993], and cMC411 (5q23 -Ward).…”

Assignment¹ of the mouse <i>Extl1</i> gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping

“…FISH was performed as reported previously (Wauters et al, 1992). To confirm chromosome location, a mouse reference probe (mouse chromosome 4-specific point probe, MM4; Applied Genetics Laboratories Inc, Melbourne), located at 46 cM from the centromere, was included.…”