Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes.
作者： B. D. Gelb , Eric Spencer , Suliman Obad , Gordon J. Edelson , Simon Faure
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摘要: Pycnodysostosis (PKND) is a rare, autosomal recessive skeletal dysplasia, which has been mapped previously to 4-cM interval between D1S442 D1S305 at chromosome 1q21. Only D1S498 did not recombine with the disease locus in large, consanguineous Arab family PKND. In present studies, five new Genethon markers (D1S2343, D1S2344, D1S2345, D1S2346, and D1S2347) were tested against DNA from this Stanford G3 diploid radiation hybrid panel. The results permitted ordering of some loci no recombinant distance: D1S442-D1S2344-(D1S498/D1S2347)-(D1S2343/+ ++D1S2345)-D1S2346-D1S305.The PKND critical region was refined 2-cM D1S2344 D1S343/D1S2347. addition, sequence-tagged sites developed for two candidate genes, IL6R MCL1. Use hybrids revealed that tightly linked D1S305, excluding it region. MCL1 most D1S2347, placing within
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