TY - JOUR
T1 - Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3
AU - Musarella, M. A.
AU - Weleber, R. G.
AU - Murphey, W. H.
AU - Young, R. S.L.
AU - Anson-Cartwright, L.
AU - Mets, M.
AU - Kraft, S. P.
AU - Polemeno, R.
AU - Litt, M.
AU - Worton, R. G.
N1 - Funding Information:
We thank Drs. P. Pearson, H. Willard, I. Craig, N. Fraser, and Y. Boyd for the gifts of their probes. We are grateful to M. Mahtani and Dr. H. Willard for their continuing assistance, to Ms. Irma Oss for her dedication to these families, to Dr. C. Siminovitch and her staff for assistance with the linkage analysis, and to Dr. G. Fishman for critical review of the manuscript. This work was funded in part by grants from the RP Eye Research Foundation of Canada (Dr. Musarella), the Atkinson Charitable Foundation (Dr. Musarellal, the National Eye Institute (EY05746) (R. S. L. Young), an unrestricted grant from the Research to Prevent Blindness, Inc., to the Department of Ophthalmology and Visual Sciences, Texas Tech Health Sciences Center, and the National Retinitis Pigmentosa Foundation Fighting Blindness (Drs. Weleber and Musarella).
PY - 1989/11
Y1 - 1989/11
N2 - X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by a presumptive defect of neurotransmission between the photoreceptor and bipolar cells. Carriers are not clinically detectable. A new classification for CSNB includes a complete type, which lacks rod function by electroretinography and dark adaptometry, and an incomplete type, which shows some rod function on scotopic testing. The refraction in the complete CSNB patients ranges from mild to severe myopia; the incomplete ranges from moderate hyperopia to moderate myopia. To map the gene responsible for this disease, we studied eight multigeneration families, seven with complete CSNB (CSNB1) and one with incomplete CSNB, by linkage analysis using 17 polymorphic X-chromosome markers. We found tight genetic linkage between CSNB1 and an Xp11.3 DNA polymorphic site, DXS7, in seven families with CSNB1 (LOD 7.35 at θ = 0). No recombinations to CSNB1 were found with marker loci DXS7 and DXS14. The result with DXS14 may be due to the small number of scored meioses (10). No linkage could be shown with Xq loci PGK, DXYS1, DXS52, and DXS15. Pairwise linkage analysis maps the gene for CSNB1 at Xp11.3 and suggests that the CSNB1 locus is distal to another Xp11 marker, TIMP, and proximal to the OTC locus. Fivepoint analysis on the eight families supported the order DXS7-CSNB1-TIMP-DXS255-DXS14. The odds in favor of this order were 9863:1. Removal of the family with incomplete CSNB (F21) revealed two most favored orders, DXS7-CSNB1-TIMP-DXS255-DXS14 and CSNB1-DXS7-TIMP-DXS255-DXS14. Heterogeneity testing using the CSNB1-M27β and CSNB1-TIMP linkage data (DXS7 was not informative in F21) was not significant to support evidence of genetic heterogeneity (P = 0.155 and 0.160, respectively).
AB - X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by a presumptive defect of neurotransmission between the photoreceptor and bipolar cells. Carriers are not clinically detectable. A new classification for CSNB includes a complete type, which lacks rod function by electroretinography and dark adaptometry, and an incomplete type, which shows some rod function on scotopic testing. The refraction in the complete CSNB patients ranges from mild to severe myopia; the incomplete ranges from moderate hyperopia to moderate myopia. To map the gene responsible for this disease, we studied eight multigeneration families, seven with complete CSNB (CSNB1) and one with incomplete CSNB, by linkage analysis using 17 polymorphic X-chromosome markers. We found tight genetic linkage between CSNB1 and an Xp11.3 DNA polymorphic site, DXS7, in seven families with CSNB1 (LOD 7.35 at θ = 0). No recombinations to CSNB1 were found with marker loci DXS7 and DXS14. The result with DXS14 may be due to the small number of scored meioses (10). No linkage could be shown with Xq loci PGK, DXYS1, DXS52, and DXS15. Pairwise linkage analysis maps the gene for CSNB1 at Xp11.3 and suggests that the CSNB1 locus is distal to another Xp11 marker, TIMP, and proximal to the OTC locus. Fivepoint analysis on the eight families supported the order DXS7-CSNB1-TIMP-DXS255-DXS14. The odds in favor of this order were 9863:1. Removal of the family with incomplete CSNB (F21) revealed two most favored orders, DXS7-CSNB1-TIMP-DXS255-DXS14 and CSNB1-DXS7-TIMP-DXS255-DXS14. Heterogeneity testing using the CSNB1-M27β and CSNB1-TIMP linkage data (DXS7 was not informative in F21) was not significant to support evidence of genetic heterogeneity (P = 0.155 and 0.160, respectively).
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U2 - 10.1016/0888-7543(89)90114-6
DO - 10.1016/0888-7543(89)90114-6
M3 - Article
C2 - 2574143
AN - SCOPUS:0024756571
SN - 0888-7543
VL - 5
SP - 727
EP - 737
JO - Genomics
JF - Genomics
IS - 4
ER -