Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
Microscopically detectable deletions and X;autosome translocations have previously facilitated the construction of a high-resolution interval map of the Xq21 region. Here, we have generated three yeast artificial chromosome contigs spanning approximately 7 megabases of the Xq13.3-q21.31 region. In addition, a novel deletion associated with choroideremia and mental retardation was identified and mapped in detail. The proximal deletion endpoint was positioned between the loci DXS995 and DXS232, which enabled us to confirm the critical region for a locus involved in mental retardation. The distal deletion endpoint is situated in the Xq21.33 band, which allowed us to refine the order of several markers in this region.
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
S M
SM
van der Maarel
I H
IH
Scholten
J A
JA
Maat-Kievit
I
I
Huber
Y J
YJ
de Kok
I
I
de Wijs
T J
TJ
van de Pol
H
H
van Bokhoven
J T
JT
den Dunnen
G J
GJ
van Ommen
D001483:Base Sequence; D015794:Choroideremia / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D003001:Cloning, Molecular; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D014178:Translocation, Genetic; D014960:X Chromosome
D009838:Oligodeoxyribonucleotides