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Sogayar MC Camargo AA Bettoni F Carraro DM Pires LC Parmigiani RB Ferreira EN de Sá Moreira E do Rosário D de O Latorre M Simpson AJ Cruz LO Degaki TL Festa F Massirer KB Sogayar MC Filho FC Camargo LP Cunha MA De Souza SJ Faria M Giuliatti S Kopp L de Oliveira PS Paiva PB Pereira AA Pinheiro DG Puga RD S de Souza JE Albuquerque DM Andrade LE Baia GS Briones MR Cavaleiro-Luna AM Cerutti JM Costa FF Costanzi-Strauss E Espreafico EM Ferrasi AC Ferro ES Fortes MA Furchi JR Giannella-Neto D 《Genome research》2004,14(7):1413-1423
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Del-Favero J; Krols L; Michalik A; Theuns J; Lofgren A; Goossens D; Wehnert A; Van den Bossche D; Van Zand K; Backhovens H; van Regenmorter N; Martin JJ; Van Broeckhoven C 《Human molecular genetics》1998,7(2):177-186
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCAII) was
previously mapped by linkage analysis studies to chromosome 3p12- p21.1
(SCA7). Positional cloning efforts have recently identified a novel gene,
SCA7 , containing a translated CAG repeat, expanded in SCA7 patients. We
cloned the SCA7 gene from a yeast artificial chromosome (YAC) clone contig
spanning the SCA7 candidate region. Using a combination of genomic
sequencing and cosmid-based exon trapping, two expressed sequence tags were
identified. Sequencing of the corresponding cDNA clones and RT-PCR analysis
identified the full- length SCA7 cDNA. Together, our sequence data defined
the intron/exon boundaries of the first two coding exons of the SCA7 gene,
with the first exon containing the expanded CAG repeat. Further, sequence
comparison with the published SCA7 cDNA identified one additional putative
exon in the 5'-UTR region of the SCA7 gene. The SCA7 gene was mapped on the
YAC contig in the 2.5 cM interval between D3S1600 and D3S1287. In one
extended Belgian SCA7 pedigree the expanded alleles ranged from 38 to at
least 55 repeats with allele lengths being inversely correlated with onset
age of ADCAII symptoms. The SCA7 repeats increased in length in successive
generations. Normal alleles had from four to 18 repeats, with 10 repeats
being the most common allele.
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