| Comments |
Restriction digests of the clone give the following sizes (kb): HindIII--4.5, 0.7; BamHI--5.1; PstI--5.1; PvuII--5.1; EcoRI--5.3; BamHI/EcoRI--4.0, 1.1. This probe is derived from X65 (genomic lambda phage clone). This probe is tightly linked to TCD. It is deleted in XL-62 family. DXS72 is linked to choroideremia with theta max = 0.02, LOD score = 7.09. Linked to X-linked hypohidrotic ectodermal dysplasia (theta = 0.02, Z = 11.38). There are no sites in the insert for BamHI, ClaI, EcoRI, EcoRV, NruI, PstI, PvuII, SalI, AvaI, BalI, NdeI, HpaI, SstI, XbaI, XhoI. There is KpnI site in the insert about 20 bp from the HindIII site nearer the vector BamHI site. HindIII polymorphism tested in X chromosomes from Caucasians, Blacks, and cell lines. Demonstrated X-linked segregation in 3 Caucasian families. Enzyme(s) not detecting polymorphism: EcoRI, XbaI, SstI (tested against 6 X chromosomes showing the HindIII polymorphism). |
| References |
Schmeckpeper BJ, et al. An anonymous single-copy X-chromosome RFLP for DXS72 from Xq13-Xq22. Nucleic Acids Res. 13: 5724, 1985. PubMed: 4041033
Merry DE, et al. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am. J. Hum. Genet. 45: 530-540, 1989. PubMed: 2491012
Lesko JG, et al. Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: Application to mapping the choroideremia locus. Am. J. Hum. Genet. 40: 303-311, 1987. PubMed: 2883887
Zonana J, et al. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am. J. Hum. Genet. 43: 75-85, 1988. PubMed: 3163892
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