Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus.
Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 was not detected in the patients. In addition, a linkage of the syndrome to D15S9 and D15S10 loci was not observed in the family. These data suggest that a gene for the Cohen syndrome is excluded from the 15q11-q12 region, on which a gene for the Prader-Willi syndrome is assigned, and that the Cohen syndrome is distinctly different from the Prader-Willi syndrome, although clinical manifestations of the Cohen and the Prader-Willi syndromes are very similar.
Kondo
I
I
Department of Human Ecology and Genetics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
Hamabe
J
J
Yamamoto
K
K
Niikawa
N
N
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D003241:Consanguinity; D015342:DNA Probes; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics
D015342:DNA Probes