Summary
Further linkage data relating X-linked retinitis pigmentosa and DNA probe DXS7 {L1.28} is presented in this paper. The current mean estimate of the recombination fraction (θ) including this and all published data, is 0.09, with confidence limits 0.04 to 0.17 (maximum Lod score of 14.01 at a θ of 0.08). There is no evidence for heterogeneity of recombination fraction between the 13 families for which data are available. However, it is argued that heterogeneity should be assumed to exist for the purposes of risk estimation. Mean estimates and variances of risk are calculated for hypothetical families each with different linkage data. In families in which no recombination has been observed, the mean and variance of risk are sufficiently small for the clinical use of this probe to be acceptable to many.
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Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CME, Jay M, Bird AC, Pearson PL, Southern EM, Evans HJ (1984) Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253–255
Bhattacharya SS, Clayton JF, Harper PS, Hoare GW, Jay MR, Lyness AL, Wright AF (1985) A genetic linkage study of a kindred with X-linked retinitis pigmentosa. Br J Ophthalmol 69:340–347
Bird AC (1975) X-linked retinitis pigmentosa. Br J Ophthalmol 59:177–199
Buetow KH, Chakravarti A, Nussbaum RL, Ferrel RE (1985) Sampling variance and confidence limits on the recombination value: XLRP and DXS7. Cytogenet Cell Genet 40:595
Conneally PM, Edwards JH, Kidd KK, Lalouel JM, Morton NE, Ott J, White R (1985) Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet 40:356–359
Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, van Ommen GJB, Pearson PL, Wedgewood RJ (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am J Hum Genet 37:250–267
Friedrich U, Warburg M, Wieacker TF, Gal A, Roper H-H (1985) X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet 71:93–99
Hofker MH, Wapenaar MC, Goor N, Bakker E, van Ommen GJB, Pearson PL (1985) Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148–156
Kosambi DD (1944) The estimation of map distance from recombination values. Ann Eugen 12:172–175
Mukai S, Dryja TP, Bruns GAP, Aldridge JF, Berson EL (1985) Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. Am J Ophthalmol 100:225–229
Nussbaum RL, Lewis RA, Lesko JG, Ferrel R (1985) Mapping X-linked ophthalmological diseases II: linkage relationship of X-linked retinitis pigmentosa to X chromosome short arm markers. Hum Genet 70:45–50
Ott J (1974) Estimation of the recombination fractions in human pedigress: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597
Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311–320
Renwick JH, Bolling DR (1971) An analysis procedure illustrated on a triple linkage of use for prenatal diagnosis of myotonic dystrophy. J Med Genet 8:399–406
Smith CAB (1963) Testing for heterogeneity of recombination fraction values in human genetics. Ann Hum Genet 27:175–182
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Clayton, J.F., Wright, A.F., Jay, M. et al. Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 {L1.28}: further linkage data, heterogeneity testing, and risk estimation. Hum Genet 74, 168–171 (1986). https://doi.org/10.1007/BF00282083
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DOI: https://doi.org/10.1007/BF00282083