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(B) Analysis of the DMPK locus of an unaffected individual (GM04604) with the µLAS fluorescence micrograph and the corresponding intensity profile.
Specifically, we determined CAG repeat lengths in three more HD patient samples and an unaffected individual, covering the whole range of repeat size seen in HD.
A single band of 1052 bp was detected for the sample from an unaffected individual (GM04604; Fig. 7B, Table 2), in good agreement with the expected size of 1051 bp for two alleles of 5 CTGs.
The overhang signal in the HHS patient was dramatically diminished in the size range above 70 nt as compared to the unaffected individual, and barely detectable in the range above 150 nt (Figure 7B: compare S2 to C).
Consider a younger, unaffected individual.
The SNP was introduced through an unaffected individual, who married into the family.
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We report chest wall volume and motion differences between PE patients and unaffected individuals.
Solid symbols represent affected individuals, and open symbols represent unaffected individuals.
We construct designs that use cases only and others that use unaffected siblings or unrelated unaffected individuals as controls.
The recent identification of various gene mutations associated with disease has made possible the use of mutation analysis to identify unaffected individuals at increased risk of specific conditions.
Unaffected individuals have up to ~40 triplets, whereas in FRDA patients the number of GAA repeats can be from 70 to 17003,4.
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