Table A1.
Low-Resolution Mapping of Proximal Breakpoint[Note]
|
Results for STSs Flanking Proximal Breakpoint |
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| Palindrome P5 |
Palindrome P4 |
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| Proximal Arm |
Spacer-to-Arm Boundaries |
Distal Arm |
Proximal Arm |
Distal Arm |
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| Deletion and Patient | sY1264 | sY1207 | sY1227a | sY1228a | sY1207 | sY1224 | sY117 | sY116 | sY118 | sY118 | sY116 | sY117 | Inferred Proximal Breakpoint Location |
| P5/proximal P1:b | |||||||||||||
| AMC0110 | + | + | − | − | (+) | − | − | − | − | − | − | − | Proximal P5 |
| WHT4396 | + | + | − | − | (+) | − | − | − | − | − | − | − | Proximal P5 |
| WHT3935 | + | + | + | + | (+) | − | − | − | − | − | − | − | Distal P5 |
| P5/distal P1:c | |||||||||||||
| WHT2943 | + | + | − | − | (+) | − | − | − | − | − | − | − | Proximal P5 |
| WHT3410d | + | + | − | − | (+) | − | − | − | − | − | − | − | Proximal P5 |
| WHT3516 | + | + | + | + | (+) | − | − | − | − | − | − | − | Distal P5 |
| WHT3642 | + | + | + | + | (+) | − | − | − | − | − | − | − | Distal P5 |
| WHT4426 | + | + | + | + | (+) | − | − | − | − | − | − | − | Distal P5 |
| WHT4486 | + | + | + | + | (+) | − | − | − | − | − | − | − | Distal P5 |
| AMC0111 | + | + | + | + | (+) | − | − | − | − | − | − | − | Distal P5 |
| P4/distal P1: | |||||||||||||
| WHT2825 | + | + | + | + | + | + | + | + | − | − | (+) | (+) | Proximal P4 |
Note.— + = Positive result; − = negative result; (+) = uninformative positive result because of a cross-amplifying copy in the other palindrome arm.
a
No distinction is made between proximal and distal inner-arm-to-spacer boundaries, because orientation of the P5 spacer is expected to be polymorphic owing to putative recurrent inversions between the palindrome arms (for an example, see table A3, WHT3410).
b
Formerly AZFb.
c
Formerly AZFb plus AZFc.
d
For sY1227 and sY1228, the primer site in the arm is present, but the primer site in the spacer is deleted.