Supporting File S4. Relationship between the copy numbers of ... - PLOS
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Supporting File S4. Relationship between the copy numbers of ... - PLOS
Supporting File S4. Relationship between the copy numbers of the associated class II/a DAZ3-specific and class II/b DAZ4-specific markers and the copy ...
Supporting File S4. Relationship between the copy numbers of the associated class II/a DAZ3-specific and class II/b DAZ4-specific markers and the copy numbers of the DAZ3 and DAZ4 family members in deletion and duplication samples, respectively
DAZ3>DAZ4 gene conversion is the most probable candidate to simultaneously double the copy number of DAZ3-specific markers and eliminate the DAZ4-specific markers, both located in Fragment II. The gene conversion can occur either before or after a large rearrangement event. Only copy number pairs of a DAZ3- and a DAZ4-specific variant unambiguously indicating the copy number of DAZ3 and DAZ4 may be used for subtyping. The applicable pairs are emphasized by colored background. For example, one copy of DAZ3- and one copy of DAZ4-specific markers as well as two copies of DAZ3- and zero copies of DAZ4-specific markers indicates the presence of one copy of DAZ3 and one copy of DAZ4 gene in both deletion and duplication samples. The applicable marker copy number pairs for deletion samples are the following: The pair of DAZ3-specific marker copy number 0 and DAZ4-specific marker copy The pair of DAZ3-specific marker copy number 0 and DAZ4-specific marker copy The pair of DAZ3-specific marker copy number 1 and DAZ4-specific marker copy The pair of DAZ3-specific marker copy number 2 and DAZ4-specific marker copy
number 0 indicates number 1 indicates number 1 indicates number 0 indicates
DAZ3 copy DAZ3 copy DAZ3 copy DAZ3 copy
number 0 and DAZ4 copy number 0 and DAZ4 copy number 1 and DAZ4 copy number 1 and DAZ4 copy
number 0 (green). number 1 (blue). number 1 (gold). number 1 (gold).
The applicable marker copy number pairs for duplication samples are the following: The pair of DAZ3-specific marker copy number 1 and DAZ4-specific marker copy number 1 indicates DAZ3 copy number 1 and DAZ4 copy The pair of DAZ3-specific marker copy number 2 and DAZ4-specific marker copy number 0 indicates DAZ3 copy number 1 and DAZ4 copy The pair of DAZ3-specific marker copy number 1 and DAZ4-specific marker copy number 2 indicates DAZ3 copy number 1 and DAZ4 copy The pair of DAZ3-specific marker copy number 2 and DAZ4-specific marker copy number 2 indicates DAZ3 copy number 2 and DAZ4 copy The pair of DAZ3-specific marker copy number 3 and DAZ4-specific marker copy number 1 indicates DAZ3 copy number 2 and DAZ4 copy The pair of DAZ3-specific marker copy number 4 and DAZ4-specific marker copy number 0 indicates DAZ3 copy number 2 and DAZ4 copy The described relationship is based upon the observed association between the above markers and valid only for their copy numbers.
number 1 (green). number 1 (green). number 2 (blue). number 2 (gold). number 2 (gold). number 2 (gold).
