Abstract |
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.
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Authors | H von Bokhoven, C von Genderen, C M Molloy, D J van de Pol, C W Cremers, A von Aarem, M Schwartz, T Rosenberg, A H Geurts van Kessel, H H Ropers |
Journal | Genomics
(Genomics)
Vol. 19
Issue 2
Pg. 385-7
(Jan 15 1994)
ISSN: 0888-7543 [Print] United States |
PMID | 8188272
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Animals
- Base Sequence
- Choroideremia
(genetics)
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Denmark
- Female
- Genes
- Hearing Loss
(genetics)
- Humans
- Mice
(genetics)
- Molecular Sequence Data
- Netherlands
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Retinitis Pigmentosa
(genetics)
- Syndrome
- X Chromosome
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