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Figure 1 | BMC Medical Genetics

Figure 1

From: A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Figure 1

Pedigree of the Cypriot ARCA family 909. Haplotypes spanning the SETX locus are shown under the corresponding available family members (I-2, II-2, II-3, II-4, II-5, II-7, II-9, II-13, II-14 and II-15). Haplotypes were constructed using the order in which the microsatellite marker loci are located in the region; D9S115, D9S1831, D9S179, D9S1830 and D9S164. Affected individuals (II-2, II-3, II-9 and II-14) are homozygous for the 5-2-2-1-1 haplotype. PCR and agarose gel electrophoresis based mutation detection results are also shown below the corresponding individual. A 105 bp band denotes a normal sequence and a 101 bp band denotes a deleted sequence (c.5308_5311delGAGA). Homozygous normal individuals (II-4) have a single 105 bp band, homozygous mutant individuals (II-2, II-3, II-9 and II-14) have a single band of 101 bp and heterozygous mutation carrier individuals (I-2, II-5, II-13 and II-15) have two bands of 105 and 101 bp.

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BMC Medical Genetics

ISSN: 1471-2350

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