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Exclusion mapping of the Cohen syndrome gene from the Prader‐Willi syndrome locus
Author(s) -
Kondo Ikuko,
Hamabe Junichi,
Yamamoto Kohtaro,
Niikawa Norio
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03607.x
Subject(s) - locus (genetics) , genetics , gene duplication , biology , gene , genomic dna , gene mapping , genetic linkage , dna , chromosome
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.