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Gene Review:

PGK1P1 - phosphoglycerate kinase 1, pseudogene 1

Homo sapiens

Donnelly, A. et al., Noble, J.S. et al., Hamel, B.C. et al., Edelson, M.I. et al., Muscatelli, F. et al., et al.

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High impact information on PGK1P1

A one centimorgan region including the AR locus and flanked by the primers DXS1161 and PGK1P1 was identified as the smallest common loss region in both borderline and invasive epithelial ovarian tumors [1].
Dinucleotide repeat polymorphism at the PGK1P1 locus [2].
By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers [3].
Linkage analysis between each marker and disease status was performed, giving a maximum two point lod score of 3.64 at zero recombination with the microsatellite marker PGK1P1 at Xq11.2-12 [4].
The above markers, together with microsatellite polymorphisms at DXS237 (GMGX9), 5'DYS-II and 3'DYS MS (within the dystrophin locus), DXS538 (XL27B), PGK1P1, DXS300 (VK29AC), DXS294 (VK17AC), and DXS102 (cX38.1AC), were genotyped in the 40 CEPH reference families [5].

Biological context of PGK1P1

The maximum map specific lod score obtained was 3.56 at PGK1P1 (Xq11.2-12) [4].

Other interactions of PGK1P1

These Alu-PCR products were synthesized from radiation hybrids containing the loci DXS159, PGK1, and PGK1P1 [6].

References

A one centimorgan deletion unit on chromosome Xq12 is commonly lost in borderline and invasive epithelial ovarian tumors. Edelson, M.I., Lau, C.C., Colitti, C.V., Welch, W.R., Bell, D.A., Berkowitz, R.S., Mok, S.C. Oncogene (1998) [Pubmed]
Dinucleotide repeat polymorphism at the PGK1P1 locus. Browne, D.L., Zonana, J., Litt, M. Nucleic Acids Res. (1992) [Pubmed]
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region. Hamel, B.C., Wesseling, P., Renier, W.O., van den Helm, B., Ropers, H.H., Kremer, H., Mariman, E.C. J. Med. Genet. (1999) [Pubmed]
Linkage analysis of a large pedigree with hereditary sideroblastic anaemia. Noble, J.S., Taylor, G.R., Losowsky, M.S., Hall, R., Turner, G., Mueller, R.F., Stewart, A.D. J. Med. Genet. (1995) [Pubmed]
A linkage map of microsatellite markers on the human X chromosome. Donnelly, A., Kozman, H., Gedeon, A.K., Webb, S., Lynch, M., Sutherland, G.R., Richards, R.I., Mulley, J.C. Genomics (1994) [Pubmed]
Isolation of new probes from Xq12-->q13: an example of the screening of reference libraries with Alu-PCR products from radiation hybrids. Muscatelli, F., Monaco, A.P., Goodfellow, P.N., Hors-Cayla, M.C., Lehrach, H., Fontes, M. Cytogenet. Cell Genet. (1992) [Pubmed]

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