Linked Life Data

3862933

Source:http://linkedlifedata.com/resource/pubmed/id/3862933

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1985-11-21
pubmed:abstractText
The stability of allelic gene expression of X-linked phosphoglycerate kinase was studied in seven carriers of a rare genetic variant named PGK München. The enzymatic activities in erythrocytes of five heterozygous females and three hemizygous males were determined repeatedly over a period of 10 years (1975-1984) and shown to remain constant. As the phosphoglycerate kinase activity is lower in cells expressing the PGK München allele, the ratio of the two cell types in all heterozygous females of the PGK München kindred could be calculated from the PGK activity and from the known allozyme activities in erythrocytes of homozygous wild type or hemizygous PGK München carriers. Since the maternal or paternal origin of both alleles is known from the pedigree, the quantitative expression of the maternally derived allozyme in heterozygous women could be determined. In heterozygous carriers the cell pool expressing the maternally inherited allele was significantly increased, independently, of the PGK allele linked to the maternal X chromosome (P less than 0.001). Our data show that inactivation of one of the two X chromosomes in human female erythropoietic stem cell precursors may be non-random, at least in the kindred and cell populations described here. The results are discussed in the context of random X chromosome inactivation (Lyon hypothesis).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0026-8925
pubmed:author
pubmed:issnType
Print
pubmed:volume
200
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
497-9
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1985
pubmed:articleTitle
Preferential expression of the maternally inherited X-linked phosphoglycerate kinase allele in human erythrocytes.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't