TY - JOUR
T1 - Pycnodysostosis
T2 - Refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes
AU - Gelb, Bruce D.
AU - Spencer, Eric
AU - Obad, Suliman
AU - Edelson, Gordon J.
AU - Faure, Simon
AU - Weissenbach, Jean
AU - Desnick, Robert J.
PY - 1996
Y1 - 1996
N2 - Pycnodysostosis (PKND) is a rare, autosomal recessive skeletal dysplasia, which has been mapped previously to a 4-cM interval between D1S442 to D1S305 at chromosome 1q21. Only D1S498 did not recombine with the disease locus in a large, consanguineous Arab family with PKND. In the present studies, five new Genethon markers (D1S2343, D1S2344, D1S2345, D1S2346, and D1S2347) were tested against DNA from this family and against the Stanford G3 diploid radiation hybrid panel. The results permitted ordering of some loci previously mapped at no recombinant distance: D1S442-D1S2344-(D1S498/D1S2347)-(D1S2343/D1S2345)-D1S2346-D1S305. The PKND critical region was refined to the 2-cM interval from D1S2344 to D1S2343/D1S2347. In addition, sequence-tagged sites were developed for the two PKND candidate genes, IL6R and MCL1. Use of radiation hybrids revealed that IL6R was tightly linked to D1S305, excluding it from the PKND critical region. MCL1 was most tightly linked to D1S498 and D1S2347, placing it within the critical region.
AB - Pycnodysostosis (PKND) is a rare, autosomal recessive skeletal dysplasia, which has been mapped previously to a 4-cM interval between D1S442 to D1S305 at chromosome 1q21. Only D1S498 did not recombine with the disease locus in a large, consanguineous Arab family with PKND. In the present studies, five new Genethon markers (D1S2343, D1S2344, D1S2345, D1S2346, and D1S2347) were tested against DNA from this family and against the Stanford G3 diploid radiation hybrid panel. The results permitted ordering of some loci previously mapped at no recombinant distance: D1S442-D1S2344-(D1S498/D1S2347)-(D1S2343/D1S2345)-D1S2346-D1S305. The PKND critical region was refined to the 2-cM interval from D1S2344 to D1S2343/D1S2347. In addition, sequence-tagged sites were developed for the two PKND candidate genes, IL6R and MCL1. Use of radiation hybrids revealed that IL6R was tightly linked to D1S305, excluding it from the PKND critical region. MCL1 was most tightly linked to D1S498 and D1S2347, placing it within the critical region.
UR - http://www.scopus.com/inward/record.url?scp=0029949459&partnerID=8YFLogxK
U2 - 10.1007/s004390050177
DO - 10.1007/s004390050177
M3 - Article
C2 - 8698329
AN - SCOPUS:0029949459
SN - 0340-6717
VL - 98
SP - 141
EP - 144
JO - Human Genetics
JF - Human Genetics
IS - 2
ER -