TY - JOUR
T1 - A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q
AU - Kibar, Zoha
AU - Lafrenière, Ronald G.
AU - Chakravarti, Aravinda
AU - Wang, Jia Chi
AU - Chevrette, Mario
AU - Der Kaloustian, Vazken M.
AU - Rouleau, Guy A.
N1 - Funding Information:
We thank the families that actively participated in the study of HED. We thank Dr. Sarah Shaw for helpful suggestions. We are grateful to the CGAT Genome Resource Facility at the Hospital for Sick Children in Toronto for providing PAC and YAC clones. This work was supported by grants from the Canadian Dermatology Foundation and the National Foundation for Ectodermal Dysplasias and by USNIH Grant HD28088 to A.C. G.A.R. is supported by the Medical Research Council of Canada.
PY - 1999/2/15
Y1 - 1999/2/15
N2 - To facilitate the identification of the gene responsible for Clouston hidrotic ectodermal dysplasia (HED), we used a chromosome 13-specific radiation hybrid panel to map 54 loci in the HED candidate region. The marker retention data were analyzed using RHMAP version 3. The 54 markers have an average retention frequency of 31.6% with decreasing retention as a function of distance from the centromere. Two-point analysis identified three linkage groups with a threshold lod score of 4.00; one linkage group consisted of 49 loci including the centromeric marker D13Z1 and the telomeric flanking marker for the HED candidate region D13S143. Assuming a centromeric retention model, multipoint maximum likelihood analysis of these 49 loci except D13Z1 provided a 1000:1 framework map ordering 29 loci with 21 unique map positions and ~2000 times more likely than the next Order. Loci that could not be ordered with this level of SUpport were positioned within a range of adjacent intervals. This map spans 347 cR9000, has an average resolution of 17.3 cR9000, and includes 3 genes (TUBA2, GJβ2, and FGF-9), 18 ESTs, 19 polymorphic loci, and 8 single-copy DNA segments. Comparison of our RH map to a YAC contig showed an inconsistency in order involving a reversed interval of 6 loci. Fiber-FISH and FISH on interphase nuclei analyses with PACs isolated from this region supported our order. We also describe the isolation of 8 new chromosome 13q polymorphic (CA)(n) markers that have an average PIC value of 0.67. These data and mapping reagents will facilitate the isolation of disease genes from this region.
AB - To facilitate the identification of the gene responsible for Clouston hidrotic ectodermal dysplasia (HED), we used a chromosome 13-specific radiation hybrid panel to map 54 loci in the HED candidate region. The marker retention data were analyzed using RHMAP version 3. The 54 markers have an average retention frequency of 31.6% with decreasing retention as a function of distance from the centromere. Two-point analysis identified three linkage groups with a threshold lod score of 4.00; one linkage group consisted of 49 loci including the centromeric marker D13Z1 and the telomeric flanking marker for the HED candidate region D13S143. Assuming a centromeric retention model, multipoint maximum likelihood analysis of these 49 loci except D13Z1 provided a 1000:1 framework map ordering 29 loci with 21 unique map positions and ~2000 times more likely than the next Order. Loci that could not be ordered with this level of SUpport were positioned within a range of adjacent intervals. This map spans 347 cR9000, has an average resolution of 17.3 cR9000, and includes 3 genes (TUBA2, GJβ2, and FGF-9), 18 ESTs, 19 polymorphic loci, and 8 single-copy DNA segments. Comparison of our RH map to a YAC contig showed an inconsistency in order involving a reversed interval of 6 loci. Fiber-FISH and FISH on interphase nuclei analyses with PACs isolated from this region supported our order. We also describe the isolation of 8 new chromosome 13q polymorphic (CA)(n) markers that have an average PIC value of 0.67. These data and mapping reagents will facilitate the isolation of disease genes from this region.
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U2 - 10.1006/geno.1998.5698
DO - 10.1006/geno.1998.5698
M3 - Article
C2 - 10036193
AN - SCOPUS:0033557443
SN - 0888-7543
VL - 56
SP - 127
EP - 130
JO - Genomics
JF - Genomics
IS - 1
ER -