Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
An integrated large-insert clone map of the region Xq11-q12 is presented. A physical map containing markers within a few hundred kilobases of the centromeric locus DXZ1 to DXS1125 spans nearly 5 Mb in two contigs separated by a gap estimated to be approximately 100-250 kb. The contigs combine 75 yeast artificial chromosome clones, 12 bacterial artificial chromosome clones, and 17 P1-derived artificial chromosome clones with 81 STS or EST markers. Overall marker density across this region is approximately 1 STS/60 kb. Mapped within the contigs are 12 ESTs as well as 5 known genes, moesin (MSN), hephaestin (HEPH), androgen receptor (AR), oligophrenin-1 (OPHN1), and Eph ligand-2 (EPLG2). Orientation of the contigs on the X chromosome, as well as marker order within the contigs, was unambiguously determined by reference to a number of X chromosome breakpoints. In addition, the distal contig spans deletions from chromosomes of three patients exhibiting either complete androgen insensitivity (CAI) or a contiguous gene syndrome that includes CAI, impaired vision, and mental retardation.
Schueler
M G
MG
Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
Higgins
A W
AW
Nagaraja
R
R
Tentler
D
D
Dahl
N
N
Gustashaw
K
K
Willard
H F
HF
D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D000818:Animals; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D020451:Contig Mapping / Q000379:methods*; D003582:Cytogenetics; D020224:Expressed Sequence Tags; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D016324:Sequence Tagged Sites; D014960:X Chromosome / Q000235:genetics*