Two different genes for X-linked retinitis pigmentosa

Brunhilde Wirth; Michael J. Denton; Jia De Chen; Meinhard Neugebauer; Francis B. Halliday; Mary van Schooneveld; Jennifer Donald; Elisabeth M. Bleeker-Wagemakers; Peter L. Pearson; Andreas Gal

doi:10.1016/0888-7543(88)90011-0

Two different genes for X-linked retinitis pigmentosa

Brunhilde Wirth, Michael J. Denton, Jia De Chen, Meinhard Neugebauer, Francis B. Halliday, Mary van Schooneveld, Jennifer Donald, Elisabeth M. Bleeker-Wagemakers, Peter L. Pearson, Andreas Gal^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

38 Citations (Scopus)

Abstract

Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.

Original language	English
Pages (from-to)	263-266
Number of pages	4
Journal	Genomics
Volume	2
Issue number	3
DOIs	https://doi.org/10.1016/0888-7543(88)90011-0
Publication status	Published - 1988

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title = "Two different genes for X-linked retinitis pigmentosa",

abstract = "Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.",

author = "Brunhilde Wirth and Denton, {Michael J.} and Chen, {Jia De} and Meinhard Neugebauer and Halliday, {Francis B.} and {van Schooneveld}, Mary and Jennifer Donald and Bleeker-Wagemakers, {Elisabeth M.} and Pearson, {Peter L.} and Andreas Gal",

year = "1988",

doi = "10.1016/0888-7543(88)90011-0",

language = "English",

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pages = "263--266",

journal = "Genomics",

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T1 - Two different genes for X-linked retinitis pigmentosa

AU - Wirth, Brunhilde

AU - Denton, Michael J.

AU - Chen, Jia De

AU - Neugebauer, Meinhard

AU - Halliday, Francis B.

AU - van Schooneveld, Mary

AU - Donald, Jennifer

AU - Bleeker-Wagemakers, Elisabeth M.

AU - Pearson, Peter L.

AU - Gal, Andreas

PY - 1988

Y1 - 1988

N2 - Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.

AB - Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.

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U2 - 10.1016/0888-7543(88)90011-0

DO - 10.1016/0888-7543(88)90011-0

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SN - 0888-7543

VL - 2

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EP - 266

JO - Genomics

JF - Genomics

IS - 3

ER -

Two different genes for X-linked retinitis pigmentosa

Abstract

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