Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II.
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.
von Bokhoven
H
H
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
von Genderen
C
C
Molloy
C M
CM
van de Pol
D J
DJ
Cremers
C W
CW
von Aarem
A
A
Schwartz
M
M
Rosenberg
T
T
Geurts van Kessel
A H
AH
Ropers
H H
HH
D000818:Animals; D001483:Base Sequence; D015794:Choroideremia / Q000235:genetics; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003718:Denmark; D005260:Female; D005796:Genes; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D009426:Netherlands; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome