Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation

Autor: Christophe Philippe, I.J. de Wijs, J.T. den Dunnen, J.A. Maat-Kievit, G.J.B. van Ommen, Frans P.M. Cremers, Y.J.M. de Kok, H.-H. Ropers, Anthony P. Monaco, Hubert J.M. Smeets, T.J.R. van de Pol, I Scholten, S.M. van der Maarel, H Van Bokhoven, I. Huber
Rok vydání: 1995
Předmět:
Yeast artificial chromosome
Male
X Chromosome
Molecular Sequence Data
klinisch
cytogenetisch en moleculair onderzoek naar de betrokken genen en hun functie [X-chromosomale mentale retardatie (XMR)]
Chromosomal translocation
Locus (genetics)
Biology
Choroideremia
Translocation
Genetic
03 medical and health sciences
Intellectual Disability
Genetics
medicine
Humans
Cloning
Molecular
GeneralLiterature_REFERENCE(e.g.
dictionaries
encyclopedias
glossaries)
Chromosomes
Artificial
Yeast
Genetics (clinical)
030304 developmental biology
0303 health sciences
Autosome
Contig
Base Sequence
030305 genetics & heredity
Chromosome Mapping
medicine.disease
Pedigree
clinical
cytogenetic and molecular studies into the relevant gene and their function [X-chromosomal mental retardation (XMR)]
Oligodeoxyribonucleotides
Female
Chromosome Deletion
Zdroj: European Journal of Human Genetics, 3, pp. 207-218
European Journal of Human Genetics, 3, 4, pp. 207-218
European Journal of Human Genetics, 3, 207-218
ISSN: 1018-4813
Popis: 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.
Databáze: OpenAIRE
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