Research Article
A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy
Table 1
Sequence analysis of repetitive elements of the 9358 bp sequence of POLH gene: 43572521–43581878 using repeat masker Software.
| score | % div. | % del. | % ins. | Query sequence | Position in query- | C + | Matching repeat | Repeat class/family | -Position in repeat (left) end begin | linkage | begin | end | (left) | + | repeat | class/family | begin | end | (left) | id/graphic |
| 1692 | 13.5 | 0.4 | 0.4 | chr6:POLH:43572521+43581878 | 657 | 893 | (8465) | C | AluJr | SINE/Alu | (2) | 310 | 74 | 1 | 2266 | 10.4 | 0.3 | 4.3 | chr6:POLH:43572521+43581878 | 925 | 1240 | (8118) | C | AluSq | SINE/Alu | (9) | 304 | 1 | 2 | 658 | 26.3 | 8.6 | 4.6 | chr6:POLH:43572521+43581878 | 1267 | 1581 | (7777) | C | L1MA8 | LINE/L1 | (25) | 6266 | 5940 | 3 | 2432 | 12.0 | 0.0 | 0.0 | chr6:POLH:43572521+43581878 | 1644 | 1944 | (7414) | C | AluSx1 | SINE/Alu | (10) | 302 | 2 | 4 | 3529 | 14.9 | 6.9 | 4.2 | chr6:POLH:43572521+43581878 | 1958 | 2302 | (7056) | C | L1MB8 | LINE/L1 | (0) | 6178 | 5821 | 5 | 2464 | 10.8 | 0.0 | 0.0 | chr6:POLH:43572521+43581878 | 2303 | 2609 | (6749) | C | AluSc5 | SINE/Alu | (2) | 307 | 1 | 6 | 3529 | 16.1 | 7.0 | 4.4 | chr6:POLH:43572521+43581878 | 2610 | 3080 | (6278 | C | L1MB8 | LINE/L1 | (342) | 5820 | 5323 | 5 | 2287 | 9.2 | 5.5 | 0.0 | chr6:POLH:43572521+43581878 | 3081 | 3372 | (5986) | + | AluSq2 | SINE/Alu | 1 | 308 | (5) | 7 | 1739 | 17.8 | 10.7 | 1.8 | chr6:POLH:43572521+43581878 | 3373 | 3510 | (5848) | C | L1MB8 | LINE/L1 | (829) | 5333 | 5170 | 5 | 810 | 18.7 | 1.2 | 7.0 | chr6:POLH:43572521+43581878 | 3744 | 3909 | (5449) | C | AluJo | SINE/Alu | (19) | 293 | 137 | 8 | 535 | 29.6 | 9.7 | 1.4 | chr6:POLH:43572521+43581878 | 3990 | 4509 | (4849) | + | L2a | LINE/L2 | (2804) | 3365 | (61) | 9 | 2528 | 10.0 | 0.0 | 1.0 | chr6:POLH:43572521+43581878 | 5271 | 5581 | (3777) | C | AluSx1 | SINE/Alu | (4) | 308 | 1 | 10 | 13 | 10.0 | 5.9 | 2.8 | chr6:POLH:43572521+43581878 | 5582 | 5615 | (3743) | + | (TCTTTA)n | Simple_repeat | 1 | 36 | (0) | 11 | 684 | 5.6 | 0.0 | 0.0 | chr6:POLH:43572521+43581878 | 6162 | 6233 | (3125) | + | AluSq10 | SINE/Alu | 1 | 72 | (241) | 12 | 2510 | 10.3 | 0.0 | 0.0 | chr6:POLH:43572521+43581878 | 6991 | 7300 | (2058) | + | AluSq2 | SINE/Alu | 1 | 310 | (3) | 13 | 2679 | 7.0 | 0.0 | 0.0 | chr6:POLH:43572521+43581878 | 7564 | 7863 | (1495) | C | AluSq | SINE/Alu | (13) | 300 | 1 | 14 | 2503 | 8.4 | 0.7 | 0.0 | chr6:POLH:43572521+43581878 | 8018 | 8313 | (1045) | C | AluSg | SINE/Alu | (11) | 299 | 2 | 15 | 214 | 24.7 | 18.6 | 1.0 | chr6:POLH:43572521+43581878 | 8598 | 8683 | (675) | + | MER5A | DNA/hAT-Charlie | 2 | 102 | (87) | 16 | 196 | 16.1 | 0.0 | 0.0 | chr6:POLH:43572521+43581878 | 8684 | 8714 | (644) | + | MER5A | DNA/hAT-Charlie | (159) | 189 | (0) | 17 |
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