| Autor: |
von Bokhoven H; Department of Human Genetics, University Hospital Nijmegen, The Netherlands., von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, Schwartz M, Rosenberg T, Geurts van Kessel AH, Ropers HH, et. al. |
| Jazyk: |
angličtina |
| Zdroj: |
Genomics [Genomics] 1994 Jan 15; Vol. 19 (2), pp. 385-7. |
| DOI: |
10.1006/geno.1994.1077 |
| Abstrakt: |
The human choroideremia-like (CHML) gene and a locus for Usher syndrome type 2 (USH2) were recently mapped to the 1q31-qter region employing physical mapping and genetic linkage studies, respectively. Using a human-rodent hybrid cell line, we could refine the assignment of CHML in this study to 1q42-qter. USH2 was shown to map to the same chromosomal segment as evidenced by the fact that D1S58, a polymorphic marker previously shown to be located proximal to the USH2 locus, was also assigned in the 1q42-qter segment. To investigate a possible role of the CHML gene in the pathogenesis of USH2, we investigated 10 Dutch and 9 Danish USH2 patients for point mutations in the open reading frame of the CHML gene. Employing polymerase chain reaction-single-strand conformation polymorphism analysis and direct sequencing, we found no disease-specific mutations. These results suggest that CHML is not involved in the pathogenesis of USH2. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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