Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

C F Inglehearn, Douglas H. Lester, R Bashir, U Atif, T J Keen, A Sertedaki, J Lindsey, M Jay, A C Bird, G J Farrar

    Research output: Contribution to journalArticle

    11 Citations (Scopus)

    Abstract

    Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for mutations which segregated with the disease in adRP patients, and several have now been identified. However, we report that, as yet, no rhodopsin mutation has been found in the families first linked to C17. Since no highly informative marker system is available in the rhodopsin gene, it has not been possible to measure the genetic distance between rhodopsin and D3S47 accurately. We now present a linkage analysis between D3S47 and the rhodopsin locus (RHO) in five proven rhodopsin-retinitis pigmentosa (rhodopsin-RP) families, using the causative mutations as highly informative polymorphic markers. The distance, between RHO and D3S47, obtained by this analysis is theta = .12, with a lod score of 4.5. This contrast with peak lod scores between D3S47 and adRP of 6.1 at theta = .05 and 16.5 at theta = 0 in families adRP3 and TCDM1, respectively. These data would be consistent with the hypothesis that TCDM1 and ADRP3 represent a second adRP locus on chromosome 3q, closer to D3S47 than is the rhodopsin locus. This result shows that care must be taken when interpreting adRP exclusion data generated with probe C17 and that it is probably not a suitable marker for predictive genetic testing in all chromosome 3q-linked adRP families.

    Original languageEnglish
    Pages (from-to)590-597
    Number of pages8
    JournalAmerican Journal of Human Genetics
    Volume50
    Issue number3
    Publication statusPublished - Mar 1992

    Fingerprint

    Retinitis Pigmentosa
    Rhodopsin
    Genetic Recombination
    Lod Score
    Mutation
    Chromosomes
    Genetic Testing
    Pedigree
    Genetic Markers
    Genes

    Cite this

    Inglehearn, C. F., Lester, D. H., Bashir, R., Atif, U., Keen, T. J., Sertedaki, A., ... Farrar, G. J. (1992). Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families. American Journal of Human Genetics, 50(3), 590-597.
    Inglehearn, C F ; Lester, Douglas H. ; Bashir, R ; Atif, U ; Keen, T J ; Sertedaki, A ; Lindsey, J ; Jay, M ; Bird, A C ; Farrar, G J. / Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families. In: American Journal of Human Genetics. 1992 ; Vol. 50, No. 3. pp. 590-597.
    @article{815f236ef82849289849c8cbb40d0128,
    title = "Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families",
    abstract = "Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for mutations which segregated with the disease in adRP patients, and several have now been identified. However, we report that, as yet, no rhodopsin mutation has been found in the families first linked to C17. Since no highly informative marker system is available in the rhodopsin gene, it has not been possible to measure the genetic distance between rhodopsin and D3S47 accurately. We now present a linkage analysis between D3S47 and the rhodopsin locus (RHO) in five proven rhodopsin-retinitis pigmentosa (rhodopsin-RP) families, using the causative mutations as highly informative polymorphic markers. The distance, between RHO and D3S47, obtained by this analysis is theta = .12, with a lod score of 4.5. This contrast with peak lod scores between D3S47 and adRP of 6.1 at theta = .05 and 16.5 at theta = 0 in families adRP3 and TCDM1, respectively. These data would be consistent with the hypothesis that TCDM1 and ADRP3 represent a second adRP locus on chromosome 3q, closer to D3S47 than is the rhodopsin locus. This result shows that care must be taken when interpreting adRP exclusion data generated with probe C17 and that it is probably not a suitable marker for predictive genetic testing in all chromosome 3q-linked adRP families.",
    author = "Inglehearn, {C F} and Lester, {Douglas H.} and R Bashir and U Atif and Keen, {T J} and A Sertedaki and J Lindsey and M Jay and Bird, {A C} and Farrar, {G J}",
    year = "1992",
    month = "3",
    language = "English",
    volume = "50",
    pages = "590--597",
    journal = "American Journal of Human Genetics",
    issn = "0002-9297",
    publisher = "Cell Press",
    number = "3",

    }

    Inglehearn, CF, Lester, DH, Bashir, R, Atif, U, Keen, TJ, Sertedaki, A, Lindsey, J, Jay, M, Bird, AC & Farrar, GJ 1992, 'Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families', American Journal of Human Genetics, vol. 50, no. 3, pp. 590-597.

    Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families. / Inglehearn, C F; Lester, Douglas H.; Bashir, R; Atif, U; Keen, T J; Sertedaki, A; Lindsey, J; Jay, M; Bird, A C; Farrar, G J.

    In: American Journal of Human Genetics, Vol. 50, No. 3, 03.1992, p. 590-597.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

    AU - Inglehearn, C F

    AU - Lester, Douglas H.

    AU - Bashir, R

    AU - Atif, U

    AU - Keen, T J

    AU - Sertedaki, A

    AU - Lindsey, J

    AU - Jay, M

    AU - Bird, A C

    AU - Farrar, G J

    PY - 1992/3

    Y1 - 1992/3

    N2 - Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for mutations which segregated with the disease in adRP patients, and several have now been identified. However, we report that, as yet, no rhodopsin mutation has been found in the families first linked to C17. Since no highly informative marker system is available in the rhodopsin gene, it has not been possible to measure the genetic distance between rhodopsin and D3S47 accurately. We now present a linkage analysis between D3S47 and the rhodopsin locus (RHO) in five proven rhodopsin-retinitis pigmentosa (rhodopsin-RP) families, using the causative mutations as highly informative polymorphic markers. The distance, between RHO and D3S47, obtained by this analysis is theta = .12, with a lod score of 4.5. This contrast with peak lod scores between D3S47 and adRP of 6.1 at theta = .05 and 16.5 at theta = 0 in families adRP3 and TCDM1, respectively. These data would be consistent with the hypothesis that TCDM1 and ADRP3 represent a second adRP locus on chromosome 3q, closer to D3S47 than is the rhodopsin locus. This result shows that care must be taken when interpreting adRP exclusion data generated with probe C17 and that it is probably not a suitable marker for predictive genetic testing in all chromosome 3q-linked adRP families.

    AB - Autosomal dominant retinitis pigmentosa (adRP) has shown linkage to the chromosome 3q marker C17 (D3S47) in two large adRP pedigrees known as TCDM1 and adRP3. On the basis of this evidence the rhodopsin gene, which also maps to 3q, was screened for mutations which segregated with the disease in adRP patients, and several have now been identified. However, we report that, as yet, no rhodopsin mutation has been found in the families first linked to C17. Since no highly informative marker system is available in the rhodopsin gene, it has not been possible to measure the genetic distance between rhodopsin and D3S47 accurately. We now present a linkage analysis between D3S47 and the rhodopsin locus (RHO) in five proven rhodopsin-retinitis pigmentosa (rhodopsin-RP) families, using the causative mutations as highly informative polymorphic markers. The distance, between RHO and D3S47, obtained by this analysis is theta = .12, with a lod score of 4.5. This contrast with peak lod scores between D3S47 and adRP of 6.1 at theta = .05 and 16.5 at theta = 0 in families adRP3 and TCDM1, respectively. These data would be consistent with the hypothesis that TCDM1 and ADRP3 represent a second adRP locus on chromosome 3q, closer to D3S47 than is the rhodopsin locus. This result shows that care must be taken when interpreting adRP exclusion data generated with probe C17 and that it is probably not a suitable marker for predictive genetic testing in all chromosome 3q-linked adRP families.

    M3 - Article

    C2 - 1539595

    VL - 50

    SP - 590

    EP - 597

    JO - American Journal of Human Genetics

    JF - American Journal of Human Genetics

    SN - 0002-9297

    IS - 3

    ER -

    Inglehearn CF, Lester DH, Bashir R, Atif U, Keen TJ, Sertedaki A et al. Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families. American Journal of Human Genetics. 1992 Mar;50(3):590-597.