Summary
The linkage relationship between the locus for juvenile retinoschisis (RS) and four X-chromosomal marker loci DXS9 (RC8), DXS16 (XUT23), DXS41 (99-6), and DXS43 (D2) has been studied in six families showing a history of this disease. Recombination with RS was found for all marker loci except DXS9. The maximum lod score is ž=2.66 for RS vs. SXS9 at a recombination fraction of θ=0.0. Multipoint linkage analysis was performed and the locus order best supported by our data is: RS-DXS9-DXS43-DXS16-DXS41.
This is a preview of subscription content, log in via an institution to check access.
References
Alitalo T, Kärna J, Forsius H, Chapelle A de la (1987) X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85. Clin Genet 32:192–195
Gal A, Wienker TF, Davies LK, Pearson PL, Kunkel ALM, Latt SA, Willard HF, Ropers HH (1985) Further linkage studies between retinoschisis and cloned DNA sequences from the distal Xp. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:634
Ives EJ, Ewing CC, Innes R (1970) X-linked juvenile retinoschisis and Xg linkage in five families. Am J Hum Genet 22:17A-18A (abstr)
Keats BJB (1981) Linkage and chromosome mapping in man. University Press of Hawaii, Honolulu
Kunkel LM, Lalande M, Monaco AP, Flint A, Middlesworth W, Latt SA (1985) Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene 33: 251–258
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460–465
Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446
McKusick VA (1986) Mendelian inheritance in man, 7th edn. John Hopkins University Press, Baltimore, pp 1450–1451
Rigby PWJ, Dieckmann M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113:237–251
Schmidtke J, Pape B, Krengel U, Langenbeck U, Cooper DN, Bregel E, Meyer H (1984) Restriction fragment length polymorphisms at the human parathyroid gene locus. Hum Genet 67:428–431
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Wieacker P, Wienker TF, Dallapiccola B, Bender K, Davies KE, Ropers HH (1983) Linkage relationships between retinoschisis, Xg and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet 64:143–145
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhatacharya S, Zimmer J, Ropers HH (1984) Towards a linkage map of the human X chromosome: regional assignment of 16 cloned single copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276
Wilichowski E, Krawczak M, Seemanova E, Hanefeld F, Schmidtke J (1987) Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers. Hum Genet 75:32–40
Willard HF, Schmeckpeper BJ, Smith KD, Gross SJ (1984) High resolution regional mapping of the human X chromosome by radiation included segregation analysis of X-linked DNA probes. Cytogenet Cell Genet 37:609–610
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gellert, G., Petersen, J., Krawczak, M. et al. Linkage relationship between retinoschisis and four marker loci. Hum Genet 79, 382–384 (1988). https://doi.org/10.1007/BF00282183
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00282183