Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family

Autor:	Thomas De Broucker, Giuseppe De Michele, Vincenzo Bonifati, Nacer Abbas, Emmanuel Broussolle, Alexis Brice, Soraya Medjbeur, Johann Tassin, Anne-Marie Bonnet, Marie Vidailhet, Yves Agid, Roberto Marconi, Giuseppe Meco, Alexandra Durr, Michele De Mari, Pierre Pollak, A. Filla
Rok vydání:	1998
Předmět:	Genetics Linkage Autosomal recessive Haplotype Chromosome Locus (genetics) SOD2 Biology Chromosome 6 Genetic determinism Parkinson disease Deletion Genetic linkage Juvenile onset Microsatellite Genetics(clinical) Age of onset Gene Genetics (clinical)
Zdroj:	The American Journal of Human Genetics. 63(1):88-94
ISSN:	0002-9297
DOI:	10.1086/301934
Popis:	SummaryThe gene for autosomal recessive juvenile Parkinsonism (AR-JP) recently has been mapped to chromosome 6q25.2–27 in Japanese families. We have tested one Algerian and 10 European multiplex families with early-onset Parkinson disease for linkage to this locus, with marker D6S305. Homogeneity analysis provided a conditional probability in favor of linkage of >.9 in eight families, which were analyzed further with eight microsatellite markers spanning the 17-cM AR-JP region. Haplotype reconstruction for eight families and determination of the smallest region of homozygosity in two consanguineous families reduced the candidate interval to 11.3 cM. If the deletion of two microsatellite markers (D6S411 and D6S1550) that colocalize on the genetic map and that segregate with the disease in the Algerian family is taken into account, the candidate region would be reduced to
Databáze:	OpenAIRE
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