Table 1.
Samples Screened
|
Mutation Foundb by |
|||
| Sample (Sex) | Method(s)a | OtherMethods | MAPH |
| D1 (M) | 1,3 | Del 5-7 | Del 5-7 |
| D2 (F) | Dup 52-55 | ||
| D3 (M) | 3 | Del 50 | Del 50 |
| D4 (F) | Dup 50-55 | ||
| D5 (M) | 1,3 | nm | Dup 50-55 |
| D6 (M) | 3 | Del 8-44 | Del 8-44 |
| D7 (M) | 1,3 | nm | nm |
| D8 (M) | 1,3 | Dup 43 | Dup 43 |
| D9 (F) | Dup 58-63 | ||
| D10 (M) | 1,3 | ?c | Dup 58-63 |
| D11 (M) | 3 | Del 49-52 | Del 49-52 |
| D12 (M) | 3 | Del 48-50 | Del 48-50 |
| D13 (F) | Del 45 | ||
| D14 (M) | 3 | Del 1m | Del 1m |
| D15 (M) | 3 | nm | Del 53 |
| D16 (M) | 1,3 | nm | nm |
| D17 (M) | 3 | Del (3)-(10) | Del 4-12 |
| D18 (M) | 3 | Del 14-60 | Del 14-60 |
| D19 (M) | 1,3 | Del 69 | Del 64-67 |
| D20 (F) | 3 | Del (45)-(50) | Del 49-54 |
| D21 (M) | 3 | Del 2-(33) | Del 2-30 |
| D22 (M) | 3 | nm | nm |
| D23 (M) | 3 | Dup 12 | Dup 12 |
| D24 (F) | Dup 2 | ||
| D25 (M) | 2,3 | nm | Dup 2 |
| D26 (M) | 1,3 | nm | nm |
| D27 (F) | Dup 12-13 | ||
| D28 (F) | Dup 44 | ||
| D29 (M) | 3 | Dup 2-9 | Dup 2-9 |
| D30 (F) | nm | ||
| D31 (M) | 3 | Del 1-79 | Del 1-79 |
| D32 (F) | 3 | Dup 44-57 | Dup 44-57 |
| D33 (F) | Dup 2-7 | ||
| D34 (M) | 1,3 | Dup 2-7 | Dup 2-7 |
| D35 (M) | 1,3 | Dup 2-7 | Dup 2-7 |
| D36 (F) | 3 | Del 10-(?) | Del 10-46 |
| D37 (M) | 3 | Del 3-(?) | Del 3-19 |
| D38 (F) | 3 | Del (50) | Del 48-50 |
| D39 (M) | nm | ||
| D40 (M) | 1,3 | Del 46-51 | Del 46-51 |
| D41 (M) | 3 | Del XJ10d | Del 4-13 |
| D42 (M) | 2,3 | Del 3-16 | Del 3-16 |
| D43 (M) | 1,3 | nm | nm |
| D44 (F) | 2,3 | Dup 2e | Dup 2 |
| D45 (M) | Dup 2 | ||
| D46 (F) | 3 | nm | nm |
| D47 (M) | 1,3 | nm | nm |
| D48 (M) | 1,3 | nm | nm |
| D49 (M) | 3 | Del 8-(16) | Del 8-39 |
| D50 (M) | 1,3 | nm | nm |
| D51 (F) | 2,3 | nm | nm |
| D52 (M) | 1,2,3 | Dup 51 | Dup 51 |
| D53 (M) | 1,3 | nm | nm |
| D54 (M) | 1,3 | nm | nm |
| D55 (M) | 1,3 | nm | nm |
| D56 (M) | 1,3 | nm | nm |
| D57 (M) | Dup 6 | ||
| D58 (M) | 1,3 | nm | nm |
| D59 (M) | 1,2,3 | nm | nm |
| D60 (M) | 1,3 | nm | nm |
| D61 (M) | 1,3 | Del 2-7 | Del 3-6 |
| D62 (M) | 1,2,3 | Del 20-29 | Del 20-29 |
| D63 (F) | Dup 2-(7) | Dup 3-7 | |
| D64 (M) | Dup 17 | Dup 17 | |
| D65 (M) | 1,2,3 | nm | nm |
| D66 (F) | nm | ||
| D67 (M) | 1,2,3 | Del 19-43 | Del 21-43 |
| D68 (M) | 1,2,3 | Del 19-43 | Del 21-43 |
| D69 (M) | 1,3 | nm | nm |
| D70 (F) | Dup 3-7 | Dup 3-7 | |
| D71 (M) | Dup 3 | Dup 3 | |
| D72 (F) | Dup 3 | ||
| D73 (M) | 1,2,3 | nm | nm |
| D74 (M) | Dup 51-55 | Dup 51-55 | |
| D75 (F) | 2,3 | Dup 51-55 | Dup 51-55 |
| G1 (M) | 1,4 | nm | Del 21 |
| G2 (M) | 1,4 | nm | Dup 10-11 |
| G3 (M) | 1,4 | nm | Dup 18-23 |
| G4 (M) | 1,4 | nm | nm |
| G5 (M) | 1,4 | nm | Del 48 |
| G6 (M) | 1,4 | nm | Dup 6-7 |
| G7 (M) | 1,4 | nm | Del 66 |
| G8 (M) | 1,4 | nm | nm |
| G9 (M) | 1,4 | nm | nm |
| G10 (F) | 1,4 | nm | Del 48-50 |
| G11 (M) | 1,4 | nm | nm |
| H1 (M) | 1 | nm | nm |
| H2 (M) | 1 | nm | nm |
| H3 (M) | 1 | nm | nm |
| H4 (F) | 1 | nm | nm |
| H5 (M) | 1 | nm | Del 45-50 |
| H6 (M) | 1 | nm | Dup 44 |
| H7 (M) | 1 | nm | nm |
| H8 (M) | 1 | nm | nm |
| H9 (M) | 1 | nm | nm |
| H10 (M) | 1 | nm | Dup 3-4 |
| L1 (M) | 1,4 | nm | Dup 8-13 |
| L2 (M) | 1,4 | nm | Del 18 |
| L3 (M) | 1,4 | nm | nm |
| L4 (M) | 1,4 | nm | nm |
| L5 (M) | 1,4 | nm | Dup 5-6 |
| L6 (M) | 1,4 | nm | Dup 54 |
| L7 (M) | 1,4 | nm | Dup 8-9 |
| L8 (M) | 1,4 | nm | nm |
| L9 (M) | 1,4 | nm | Dup 45-52 |
| L10 (M) | 1,4 | nm | Dup 2 |
| L11 (M) | 1,4 | nm | Dup 8-13 |
| L12 (M) | 1,4 | nm | Dup 53-55 |
| L13 (M) | 1,4 | nm | Dup 61-64 |
| L14 (M) | 1,4 | nm | nm |
| L15 (M) | 1,4 | nm | Dup 51-57 |
| L16 (M) | 1,4 | nm | Dup 8-9 |
| L17 (M) | 1,4 | nm | Dup 2 |
| L18 (M) | 1,4 | nm | Dup 3-30 |
| L19 (M) | 1,4 | nm | Dup 20 |
| L20 (M) | 1,4 | nm | Dup 14-21 |
| L21 (M) | 1,4 | nm | nm |
| L22 (M) | 1,4 | nm | Dup 2 |
| L23 (M) | 1,4 | nm | Dup 8-9 |
| L24 (M) | 1,4 | nm | Dup 42-43 |
| L25 (M) | 1,4 | nm | Dup 6-7 |
| L26 (M) | 1,4 | nm | Del 56 |
| L27 (M) | 1,4 | nm | nm |
| M1 (M) | 1,4 | nm | Dup 18-32 |
| M2 (M) | 1,4 | nm | Dup 20-27 |
a
1 = PCR by use of the Chamberlain et al. (1988) and Beggs et al. (1990) sets; 2 = quantitative Southern blotting; 3 = quantitative multiplex PCR; 4 = point-mutation detection.
b
Del = deletion; Dup = duplication; nm = no mutation found. Numbers denote exons; those in parentheses indicate an uncertain breakpoint.
c
Duplication of 30–50 kb around exon 60 detected using pulsed-field gel electrophoresis.
d
Probe located in intron 7.
e
Detectable by quantitative PCR, not evident with quantitative Southern blotting.