HIGH-DENSITY PHYSICAL MAPPING OF A 3-MB REGION IN XP22.3 AND REFINED LOCALIZATION OF THE GENE FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA (CDPX1)

被引:6
作者
WANG, I
FRANCO, B
FERRERO, GB
CHINAULT, AC
WEISSENBACH, J
CHUMAKOV, I
LEPASLIER, D
LEVILLIERS, J
KLINK, A
RAPPOLD, GA
BALLABIO, A
PETIT, C
机构
[1] INST PASTEUR, CNRS, UNITE GENET MOLEC HUMAINE 1445, F-75724 PARIS 15, FRANCE
[2] BAYLOR COLL MED, DEPT HUMAN MOLEC GENET, HOUSTON, TX 77030 USA
[3] GENETHON, F-91000 EVRY, FRANCE
[4] CTR ETUD POLYMORPHISME HUMAIN, F-75010 PARIS, FRANCE
[5] UNIV HEIDELBERG, INST HUMANGENET, D-69120 HEIDELBERG, GERMANY
关键词
D O I
10.1016/0888-7543(95)80205-Z
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
The study of patients with chromosomal rearrangements has led to the mapping of the gene responsible for X-linked recessive chondrodysplasia punctata (CDPX1; MIM 302950) to the distal part of the Xp22.3 region, between the loci PABX and DXS31. To refine this mapping, a yeast artificial chromosome (YAC) contig map spanning this region has been constructed. Together with the YAC contig of the pseudoautosomal region that we previously established, this map covers the terminal 6 Mb of Xp, with an average density of 1 probe every 100 kb. Newly isolated probes that detect segmental X-Y homologies on Yp and Yq suggest multiple complex rearrangements of the ancestral pseudoautosomal region during evolution. Compilation of the data obtained from the study of individuals carrying various Xp22.3 deletions led us to conclude that the CDPX disease displays incomplete penetrance and, consequently, to refine the localization of CDPX1 to a 600-kb interval immediately adjacent to the pseudoautosomal boundary. This interval, in which 12 probes are ordered, provides the starting point for the isolation of CDPX1. (C) 1995 Academic Press, Inc.
引用
收藏
页码:229 / 238
页数:10
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