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 sequencePosition in query-C
+
Matching
repeat
Repeat class/family-Position in repeat (left) end beginlinkage
beginend(left)+repeatclass/familybeginend(left)id/graphic

169213.50.40.4chr6:POLH:43572521+43581878657893(8465)CAluJrSINE/Alu(2)310741
226610.40.34.3chr6:POLH:43572521+435818789251240(8118)CAluSqSINE/Alu(9)30412
65826.38.64.6chr6:POLH:43572521+4358187812671581(7777)CL1MA8LINE/L1(25)626659403
243212.00.00.0chr6:POLH:43572521+4358187816441944(7414)CAluSx1SINE/Alu(10)30224
352914.96.94.2chr6:POLH:43572521+4358187819582302(7056)CL1MB8LINE/L1(0)617858215
246410.80.00.0chr6:POLH:43572521+4358187823032609(6749)CAluSc5SINE/Alu(2)30716
352916.17.04.4chr6:POLH:43572521+4358187826103080(6278CL1MB8LINE/L1(342)582053235
22879.25.50.0chr6:POLH:43572521+4358187830813372(5986)+AluSq2SINE/Alu1308(5)7
173917.810.71.8chr6:POLH:43572521+4358187833733510(5848)CL1MB8LINE/L1(829)533351705
81018.71.27.0chr6:POLH:43572521+4358187837443909(5449)CAluJoSINE/Alu(19)2931378
53529.69.71.4chr6:POLH:43572521+4358187839904509(4849)+L2aLINE/L2(2804)3365(61)9
252810.00.01.0chr6:POLH:43572521+4358187852715581(3777)CAluSx1SINE/Alu(4)308110
1310.05.92.8chr6:POLH:43572521+4358187855825615(3743)+(TCTTTA)nSimple_repeat136(0)11
6845.60.00.0chr6:POLH:43572521+4358187861626233(3125)+AluSq10SINE/Alu172(241)12
251010.30.00.0chr6:POLH:43572521+4358187869917300(2058)+AluSq2SINE/Alu1310(3)13
26797.00.00.0chr6:POLH:43572521+4358187875647863(1495)CAluSqSINE/Alu(13)300114
25038.40.70.0chr6:POLH:43572521+4358187880188313(1045)CAluSgSINE/Alu(11)299215
21424.718.61.0chr6:POLH:43572521+4358187885988683(675)+MER5ADNA/hAT-Charlie2102(87)16
19616.10.00.0chr6:POLH:43572521+4358187886848714(644)+MER5ADNA/hAT-Charlie(159)189(0)17