ࡱ> Root Entry F,GCompObjnWordDocumentVObjectPool\<\< *& !"#$%'()+,GHIJKSummaryInformation(  a informatikuUprava za informatiku@(M@Y@\@ Microsoft Word 6.06 FMicrosoft Word 6.0 Document MSWordDocWord.Document.69q_Oh+'0@d    <` ???'|(C:\MSOFFICE\WINWORD\TEMPLATE\NORMAL.DOTOPOLYMORPHISM OF 6 VNTR LOCI IN A CROATIAN POPULATION USING AUTOMATED DETECTIONUprava zܥe= DeVDDHHHHH$KHKKKKKpK[UYLL"4L4L4L8L8L8LMMMM.NOJQUTVhQH8L4L8L8L8LhQ8LHH4LL8L8L8L8LH4LH4LM$H,PHJHHHH8LM8L8LDETERMINATION OF POLYMORPHISM AT 8 STR LOCI IN THE CROATIAN POPULATION USING AUTOMATED DETECTION Zorana Grubi, Katarina tingl, Andrija Katelan National Referral Organ Transplantation and Tissue Typing Center, University Hospital Center Zagreb, Zagreb, CROATIA Address for correspondence: Zorana Grubi National Referral Organ Transplantation and Tissue Typing Center, University Hospital Center Zagreb Kipatieva 12, 10000 Zagreb, CROATIA tel: +385 1 23 88 689; fax: +385 1 23 12 684 e-mail: zgrubic(yahoo.com Abstract Population study was carried out on the sample of 167 unrelated donors from the wider area of the Croatia's capital, Zagreb, using the short tandem reapet (STR) loci: TH01, VWFA31, FES/FPS, F13A01, D1S1656, D12S391, D18S535 and D22S683 Key words: Population study, Croatians, Short Tandem Repeats Population: One hundred sixty-seven healthy unrelated donors from the wider area of the Croatian capital, Zagreb Extraction: Standard salting out method (1) PCR: Amplification was carried out in a thermal cycler Gene Amp PCR System 9600 (Perkin Elmer) and it was performed according to the published primers (TH01, VWFA31, FES/FPS, and F13A01) (2). The D1S1656, D12S391, D18S535, and D22S683 loci were amplified as described by Lareau et al. (3). Typing: Pharmacia ALFexpress sequencer using Fragment Manager program (Pharmacia Biotech, Uppsala, Sweden) and ALFexpress sizers Results: See Table 1 and Table 2 Analysis of data: The results were tested for Hardy-Weinberg equlibrium using chi-square test by comparing observed and expected genotype frequencies. Power of exclusion (PE), polymorphic information content (PIC) and matching probability were calculated as described previously (4-6) Other remarks: A comparison of the Croatian population with other European populations studied to date revealed no significant differences of allele frequencies (7-10). The only difference is the presence of two small alleles (allele 4-195bp, and allele 6-203bp) at FES/FPS locus, which have not been reported in other studies. To justify these findings it is necessery to sequence these alleles because they appeared only once. At F13A01 locus we also found two small alleles: allele 2 (175bp) and allele 2.2 (177bp) which are frequent in our population (1.5% and 3.0%, respectively) and therefore need not be sequenced Table 1. The distribution of allele frequencies at 8 STR loci in the Croatian population AlleleTH01 N=167VWFA31 N=167FES/FPS N=167F13A01 N=167D1S1656 N=167D12S391 N=167D18S535 N=167D22S683 N=1672--0.015----2.2---0.030----3--0.071----3.2--0.038----4--0.0030.103---- 50.038--0.220----60.232-0.0030.310----70.121-0.0120.141----80.147-0.0330.012---90.209-0.036---0.099-9.30.206-------100.026-0.194---0.015-110.009-0.347-0.075-0.051-120.008-0.2390.0060.117-0.1910.12712.2-------0.021130.0030.0540.1170.0150.1230.0060.3110.08213.2-------0.14914-0.1170.0170.0150.0660.0060.2070.13014.2-------0.13615-0.128-0.0180.1080.0270.1110.08515.2-0.054----0.0150.03615.3----0.177--16-0.220-0.0090.0630.054-0.04516.2-------0.01216.3-#b|u `%$ h 4h.hDl p  #' #@DaEEEu 6u 6$ h 4h.K @ Normal ]a c"A@"Default Paragraph Font @ Footer 9r )@ Page Number37-39. C. Nussbaumer, S. Hanslik, M. Fichtinger, G. BauerSTR data for the AmPFlSTR SGM plus from a regional population of Austria. Forensic Scienc International 122 (2001) 181-183. 7 .A .A 7 L p | 0 J j v  / 6 I g ,D,?@BCISTV]_lmuDDDDDDDD/E8E>E?EMENEPEXE_E`EaEbEEEEEPVu.---0.069--17-0.291-0.0540.102-0.02717.2-------0.02417.3----0.099---18-0.103-0.0210.153-0.00618.2-------0.03618.3----0.030---19-0.049---0.129--19.2-----0.02420-0.018---0.108-0.02720.2-0.006-----0.03021-0.009---0.126--22-----0.120--23-----0.096--24-----0.045--25-----0.030--Ob. H0.78350.77720.73890.75540.86230.87420.74250.8545Ex. H0.80170.80260.74230.80330.88570.88320.76980.8973PE0.94360.94570.91190.94450.97990.97840.93170.9828PIC0.81350.80990.74360.80220.89330.88930.78190.9014MP0.05640.054330.08810.05530.01890.02160.06830.0172Ob. H (observed heterozygosity), Ex. H (expected heterozygosity), PE (power of exclusion), PIC (polymorphic information content), MP (matching probability) References S.A. Miller, D.D. Dykes, H.F. Polesky, A simple salting-out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16 (1988) 1215. A. Urquhart, C.P. Kimpton, T.J. Downes, P. Gill, Variation of Short Tandem Repeat sequences- a survey of twelve microsatellite loci for use as forensic identification markers. Int. J. Legal Med. 107 (1994) 13-20. M.V. Lareu, S. Barral, A. Salas, M. Rodriguez, C. Pestoni, A. Carracedo, Further exploration of new STRs of interest for forensic genetic analysis. in: G.F. Sensabaugh, P.J. Lincoln, B. Olaisen (Eds.), Progress in Forensic Genetics 8, Elsevier Amsterdam. 2000. pp 198-200 J.F. Crow, M.A. Berger, D.H. Kaye, The evaluation of forensic DNA evidence. National Research Council, National Academy Press, 1996 G. Hearne, S. Ghosh, J. Todd, Microsatellites for linkage analysis of genetic traits. Trends Genet. 8 (1992) 288-294. D.A. Jones, Blood samples: probability of discrimination. J. Forensic Sci. 35 (1972) 1196-1200. R. Forster, G. Basler, W. Pflug, J. Schnee-Griese, S. Uhl, Allele frequencies (HUMVWA, HUMTHO1 and HUMFES/FPS) in a population sample of South-West Germany. iacde/=j GH  9 : ; u u u u u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6u ;u u u Ju 6u 6u Ju 6u u Ju 6u # u 6u u 6u Ju 6u u 6u u hh*          pDl p  #' Dl p  #' x ! # & ' - / 1 3 5 6 8 : < = C E G I K L P R T U [ ] _ a c d f h Dl p  #' x h j p v x z | ~  Dl p  #' x    xDl p  #'  "$&(*,./28:@BDFLNORXZ`bhjprsv|~Dl p  #' x ~Dl p  #' x   $*067<>@BDFHJPQTV\^djpDl p  #' x pv|}Dl p  #' x   !'-/56;xDl p  #' ;=?ACEGIOPUWY[]cegijmouwx~Dl p  #' x Dl p  #' x  "$&(*,2368>@BDJDl p  #' x JLNORTVXZ\bdfgjlnprtz|~Dl p  #' x  %,-0xDl p  #' 07>ELSZahimt{Dl p  #' xn: B. Olainsen, B. Brinkmann, P. J. Lincoln (Eds.), Progress in Forensic Genetics 7, Elsevier, Amsterdam. 1998. pp 278-281. J.J. Gamero, L. Souto, D.N. Vieira, M.A. Vizcaya, M.I. Arufe, M.M. Feliu, M.C. Vide, J.L. Romero, Population study of the HUMVWA, HUMTH01, HUMFES and HUMF13A1 STR polymorphisms in the South-West of Spain. in: B. Olainsen, B. Brinkmann, P. J. Lincoln (Eds.), Progress in Forensic Genetics 7, Elsevier, Amsterdam. 1998. pp 366-368.. R. Domenici, S. Fornaciari, M. Nardone, S. Rocchi, I. Spinetti, M. Venturi, S. Presciuttini, Allele frequencies of the FUMTH01, HUMVWA31, HUMFES/FPS, HUMF13A1 loci in Tuscany (Italy). in: G.F. Sensabaugh, P.J. Lincoln, B. Olaisen (Eds.), Progress in Forensic Genetics 8, Elsevier Amsterdam. 2000. pp 164-166. P. Nievas, B. Martinez-Jarreta, E. Abecia, M.V. Lareu, Fluorescence-based amplification of the STR loci D18SS535, D1S1656 and D12S391 in a population sample from Aragon (North Spain). Int. J. Legal Med. 113 (1999) 58-59. PAGE  PAGE 3  .A .A 7 .A .AMaviglia, M. Dobosz, I. Boschi, A. Caglia, D. Hall, C. Capelli, E. D'AlojaMPescarmona, A. Moscetti, V.Lascali, G. Destro-Bisol, rpository of 14 PCR-loci Italian gene frequencies in the world wide web. Forensic Scienc International 115 (2001) 99-101. M. Aler, A. Salas, M. isbert, A. Carracedo. Data for nine autosomal STRs markers from Valencia (East Mediterraneen coast of the Iberian Peninsula). Forensic Scienc International 116 (2001) ` HS    !"#$E ,uP uDP[ccUcUVJ@UZ/ bEuE!!!!   / sw`  /  ' = U Z p  @ d p $ > ^ j  # * = [ z  8@Xp!UtuvW`'u Ju Zu u u u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6 ,E#  h ~p;J0E ! !!Uprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuA:\FSIAC263.DOC@HP DeskJet 690C Series PRoot Entry F`2CompObjnWordDocument3VObjectPool\<\<& !"#$%;'()/1456789:<=>?@ABCDEFSummaryInformation(  a informatikuUprava za informatiku@(M@Y@K@ Microsoft Word 6.05 FMicrosoft Word 6.0 Document MSWordDocWord.Document.69q_Oh+'0@d    <` f.dll,150 URL Protoco(C:\MSOFFICE\WINWORD\TEMPLATE\NORMAL.DOTOPOLYMORPHISM OF 6 VNTR LOCI IN A CROATIAN POPULATION USING AUTOMATED DETECTIONUprava zܥe= 4eVDDHHHHH$KHKKKKKpK_UYLL"4L4L4L8L8L8LMMMM.NONQUT VlQH8L4L8L8L8LlQ8LHH4LL8L8L8L8LH4LH4LM$H,PHJHHHH8LM8L8LDETERMINATION OF POLYMORPHISM AT 8 STR LOCI IN THE CROATIAN POPULATION USING AUTOMATED DETECTION Zorana Grubi, Katarina tingl, Andrija Katelan National Referral Organ Transplantation and Tissue Typing Center, University Hospital Center Zagreb, Zagreb, CROATIA Address for correspondence: Zorana Grubi National Referral Organ Transplantation and Tissue Typing Center, University Hospital Center Zagreb Kipatieva 12, 10000 Zagreb, CROATIA tel: +385 1 23 88 689; fax: +385 1 23 12 684 e-mail: zgrubic(yahoo.com Abstract Population study was carried out on the sample of 167 unrelated donors from the wider area of the Croatia's capital, Zagreb, using the short tandem reapet (STR) loci: TH01, VWFA31, FES/FPS, F13A01, D1S1656, D12S391, D18S535 and D22S683 Key words: Population study, Croatians, Short Tandem Repeats Population: One hundred sixty-seven healthy unrelated donors from the wider area of the Croatian capital, Zagreb Extraction: Standard salting out method (1) PCR: Amplification was carried out in a thermal cycler Gene Amp PCR System 9600 (Perkin Elmer) and it was performed according to the published primers (TH01, VWFA31, FES/FPS, and F13A01) (2). The D1S1656, D12S391, D18S535, and D22S683 loci were amplified as described by Lareau et al. (3). Typing: Pharmacia ALFexpress sequencer using Fragment Manager program (Pharmacia Biotech, Uppsala, Sweden) and ALFexpress sizers Results: See Table 1 and Table 2 Analysis of data: The results were tested for Hardy-Weinberg equlibrium using chi-square test by comparing observed and expected genotype frequencies. Power of exclusion (PE), polymorphic information content (PIC) and matching probability were calculated as described previously (4-6) Other remarks: A comparison of the Croatian population with other European populations studied to date revealed no significant differences of allele frequencies (7-10). The only difference is the presence of two small alleles (allele 4-195bp, and allele 6-203bp) at FES/FPS locus, which have not been reported in other studies. To justify these findings it is necessery to sequence these alleles because they appeared only once. At F13A01 locus we also found two small alleles: allele 2 (175bp) and allele 2.2 (177bp) which are frequent in our population (1.5% and 3.0%, respectively) and therefore need not be sequenced Table 1. The distribution of allele frequencies at 8 STR loci in the Croatian population AlleleTH01 N=167VWFA31 N=167FES/FPS N=167F13A01 N=167D1S1656 N=167D12S391 N=167D18S535 N=167D22S683 N=1672--0.015----2.2---0.030----3--0.071----3.2--0.038----4--0.0030.103---- 50.038--0.220----60.232-0.0030.310----70.121-0.0120.141----80.147-0.0330.012---90.209-0.036---0.099-9.30.206-------100.026-0.194---0.015-110.009-0.347-0.075-0.051-120.008-0.2390.0060.117-0.1910.12712.2-------0.021130.0030.0540.1170.0150.1230.0060.3110.08213.2-------0.14914-0.1170.0170.0150.0660.0060.2070.13014.2-------0.13615-0.128-0.0180.1080.0270.1110.08515.2-0.054----0.0150.03615.3----0.177--16-0.220-0.0090.0630.054-0.04516.2-------0.01216.3-#b|u `%$ h 4h.hDl p  #' #@DaEEu 6u 6$ h 4h.K @ Normal ]a c"A@"Default Paragraph Font @ Footer 9r )@ Page Number37-39. C. Nussbaumer, S. Hanslik, M. Fichtinger, G. BauerSTR data for the AmPFlSTR SGM plus from a regional population of Austria. Forensic Scienc International 122 (2001) 181-183. 7 .A .A 7L p | 0 J j v  / 6 I g ,D,?@BCISTV]_lmuDDDDDDDD/E8E>E?EMENEPEXE_E`EaEbEEEEPVu-/ bEuE!!!!   / sw`  /  ' = U Z p  @ d p $ > ^ j  # * = [ z  8@Xp!UtuvW`'u Ju Zu u u u 6u 6u 6u 6u 6u 6u 6u 6u 6u 6 ,E#  h ~p;J0E ! !!Uprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\SHSTR.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOCUprava za informatikuC:\RADOVI\FSIAC264.DOC@HP DeskJet 690C Series PrinterLPT1:HPFDJC07HP DeskJet 690C Series Printer7 d,,HP DeskJet 690C Series PrinterLPT1 ,,HP DeskJet 690C Series Printer7 d,,HP DeskJet 690C Series PrinterLPT1 ,,c/ vwZ+-6<=>L_`bcistvw~ %'QY[pqt;  !Eloz ,?@BCISTV]_lmuDDDD"DDDD/E8E>E?EMENEPEXE_EEEYTimes New Roman Symbol &ArialTimes New Roman CE&Arial CE"hpdFdf$NPOLYMORPHISM OF 6 VNTR LOCI IN A CROATIAN POPULATION USING AUTOMATED DETECTIONUprava za informatikuUprava za informatiku Page Number; $7!!!!   ; }  K;  3 I a f |   , L p | 0 J j v  / 6 I g ,DrinterLPT1:HPFDJC07HP DeskJet 690C Series Printer7 d,,HP DeskJet 690C Series PrinterLPT1 ,,HP DeskJet 690C Series Printer7 d,,HP DeskJet 690C Series PrinterLPT1 ,,c/ vwZ+-6<=>L_`bcistvw~ %'QY[pqt;  !Eloz ,?@BCISTV]_lmuDDDD"DDDD/E8E>E?EMENEPEXE_EEEYTimes New Roman Symbol &ArialTimes New Roman CE&Arial CE"hpdFdf$NPOLYMORPHISM OF 6 VNTR LOCI IN A CROATIAN POPULATION USING AUTOMATED DETECTIONUprava za informatikuUprava za informatikuDnEnpFnCnBnHLn0In@npn8>nڐ=n