| First Author | Bowcock AM | Year | 1987 |
| Journal | Cytogenet Cell Genet | Volume | 46 |
| Pages | 585 (Abstr.) | Mgi Jnum | J:4892 |
| Mgi Id | MGI:53372 | Citation | Bowcock AM, et al. (1987) Refining the Chromosome 13q14 map. Cytogenet Cell Genet 46:585 (Abstr.) |
| abstractText | Full text of Abstract: Abstracts of workshop presentations. Refining the chromosome 13q14 map. Bowcock AM,1 Farrer LA,2 Hebert JM,1 Kidd JR,2 Lee WH,3 Kidd KK,2 Cavalli Sforza LL.1. 1Department of Genetics, Stanford University, Stanford, CA. 2Department of Human Genetics, Yale University, New Haven, CT. 3University of California, San Diego, CA. Due to the interest in retinoblastoma which maps to 13ql4, a number of probes surrounding this region have been isolated. These include p7D2 (D13S10), pG14E1.9 (D13S22), and Esterase D (ESD) cDNA. Using RFLPs identified by these three probes we have studied the linkage relationship between these markers and attempted to determine their order. Fifty CEPH families and three large kindreds with Wilson's disease (Bonne-Tamir et al, Genet Epidemiol 3:209, 1986) were typed for the serum protein polymorphism and BanII RFLP for ESD, the TaqI and DraI RFLPs for D13S10, and the Drai RFLP for D13S22. The D13S10-TaqI and ESD-serum linkage data in the CEPH families were previously reported by Leppert et al, Am J Hum Genet 39:425, 1986. Two other large reference families were typed for ESD and D13S10. The minor allele frequencies used in the analysis are .13 (ESD-serum), .35 (ESD-BanII), .21 (D13S10-TaqI), .35 (D13S10-DraI), and .35 (D13S22-DraI). Lod scores between all sets of markers are shown below: recombination fraction Markers: ESD-D13S10: 0.00: -; 0.001: 23.60; 0.01: 29.92; 0.05: 31.70; 0.10: 29.72; 0.20: 23.15; 0.30: 15.05; 0.40: 5.95; emax: .03; Zmax: 31.82. ESD-D13S22; 0.00: -; 0.001: 17.82; 0.01: 18.55; 0.05: 17.90; 0.10: 16.33; 0.20: 12.50; 0.30: 8.47; 0.40: 3.45; emax: .01; Zmax: 18.55. D13S10-D13S22; 0.00: 22.60; 0.001: 22.61; 0.01: 22.61; 0.05: 21.31; 0.10: 19.21; 0.20: 14.45; 0.30: 9.17; 0.40: 3.26; emax: .005; Zmax: 22.62. The one lod unit support intervals are: ESD-D13S10 : 0.01 - 0.08; ESD-D13S22 : 0.001 - 0.07; D13S10-D13S22 : 0.00 - 0.04. The two most likely orders are D13S22 - D13S10 - ESD and D13S10 - D13S22 - ESD. Both are ten times more likely than the third order. Information on order was contributed almost entirely by three events although none allowed unambiguous interpretation. Although the results of the two-point analysis might appear to favor the order D13S10 - D13S22 - ESD, any order would be consistent given the sizes of the confidence intervals. Thus, additional family studies are required to determine which order is correct. HGM symbols: D13S10, D13S22, ESD |
