Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
Human Genetics. 1997-01-27; 99(2): 225-232
DOI: 10.1007/s004390050344
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1. Hum Genet. 1997 Feb;99(2):225-32.
Refinement of the locus for autosomal dominant cerebellar ataxia type II to
chromosome 3p21.1-14.1.
Krols L(1), Martin JJ, David G, Van Regemorter N, Benomar A, Löfgren A, Stevanin
G, Dürr A, Brice A, Van Broeckhoven C.
Author information:
(1)Department of Biochemistry, Flanders Interuniversity Institute for
Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA),
Belgium.
We have previously mapped the gene for autosomal dominant cerebellar ataxia type
II (ADCAII) to chromosome 3p12-p21.1 in a region of 33 cM by using four families
of different geographic origin. In this study, we analysed the families with nine
additional simple tandem repeat markers located in the ADCAII candidate region.
An extensive clinical evaluation was also performed in the Belgian family CA-1 on
two probably affected and seven at-risk individuals by means of ophthalmological
examination and magnetic resonance imaging. Based on informative recombinants, we
were able to reduce the ADCAII candidate region to the 12-cM region between
D3S1300 and D3S1285. Furthermore, haplotype analysis among the families suggested
that the most likely location of the ADCAII gene is within the 6.2-cM interval
between D3S3698 and D3S1285. Because of the documented anticipation in ADCAII
families, we also analysed family CA-1 with six polymorphic triplet repeat
markers located on chromosome 3. None of these markers showed expanded alleles.
DOI: 10.1007/s004390050344
PMID: 9048926 [Indexed for MEDLINE]