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Y-kromozomu 17 STR markırının Türkiye’deki polimorfizmi

oly orp is of c ro oso e ST ar ers in Tur iye

F NS C

NA A T C

SUÇA SÜRÜKLENEN ÇOCUKLARIN SUÇ TİPLERİ,

SOSYODEMOGRAFİK VE KLİNİK ÖZELLİKLERİ TYPES OF

CRIMES, SOCIODEMOGRAPHIC AND CLINICAL CHARACTERISTICS OF DELINQUENT CHILDREN BİR ÜNİVERSİTE HASTANESİ

PSİKİYATRİ POLİKLİNİĞİNE BAŞVURAN ADLİ OLGULARIN İNCELENMESİ EVALUATION OF FORENSIC PSYCHIATRY CASES

REFERRED TO PSYCHIATRY DEPARTMENT OF A UNIVERSITY HOSPITAL Y-KROMOZOMU 17 STR MARKIRININ TÜRKİYE’DEKİ

POLİMORFİZMİ POLYMORPHISM OF 17 Y-CHAROMOSOME STR

MARKERS IN TURKIYE ATEŞLİ SİLAH YARALANMALARINA

BAĞLI ÖLÜMLERDE ORİJİN TESPİTİ PARAMETRELERİNİN DEĞERLENDİRİLMESİ EVALUATION OF ORIGIN DETERMINATION

PARAMETERS IN DEATHS RELATED TO FIREARM INJURY BİR GRUP

30 3/2016

JOURNAL OF FORENSIC MEDICINE

JOURNAL OF FORENSIC MEDICINE

ÖZET

AMAÇ: Adli ara tır alarda, er e e adın DNA rne leri genel

li le arı ı alde ulunurlar. u t r rne lerin tiplendiril esinde ST ullanıl a tadır. u alı anın a acı T r iye popula syonuna ait o o en da ılı ın g steren ir ST aplotip eri ta anını olu tur a e di er d nya pop lasyonlarında nceden yapıl ı ST sonu larıyla ar ıla tır a tır.

YÖNTEM: an eya a ı i i s r nt rne leri sa lı lı,

aralarında a ra alı ili isi ulun ayan e alı aya g n ll atıl ayı a ul eden T r iye de i er e ireylerden alın ı tır.

ST lo uslarının aplotip e alel sı ılı ları A pFlST filer C A plification iti ullanılara o altıldı e A 3 30 ci a ında anali edildi. en e aplotip alel sı lı ları Arle uin Soft are 3.0 ullanılara esaplandı. Mole ler aryans anali AM VA sonu ları D e ri i i ara ları ullanılara ST

e linde de erlendirildi.

BULGULAR: T r iye pop lasyonunda rne te aynı aplo

tipe rastlan adı. n y se gen e itlili i D S3 a / lo usunda g r l r en e en d D S3 lo usunda g lendi. alı ılan pop lasyona en ya ın pop lasyonlar sırasıyla neydo u Anadolu,

ı rıslı T r ler e u uro a pop lasyonları oldu.

SONUÇ: u alı a, adli uygula alarda ullanılan y se

ayrı g c ne sa ip e ST lo usunun T r pop lasyonuna ait son erilerini i er e tedir.

Anahtar Kelimeler: ST , Tur iye, adli ili ler, populasyon geneti i.

ABSTRACT

OBJECTIVE: ST typing is useful forensic in estigation tool

as it often in ol es a i ture of ale and fe ale DNA. T e ai s of t e present study ere to type ST loci in order to esta lis a proper ST aplotype data ase it o ogenous distri ution of t e Tur is population and co pare our results it pre iously pu lis ed ST researc es a out Tur is and ot er orld ide populations.

METHODS: T e lood or uccal s a sa ples ere collected

fro ealt y, unrelated ale indi iduals in Tur ey it t eir infor ed consent. DNA sa ples ere a plified using t e ST loci A pFlST filer A plification it and analy ed on A 3 30 ot Applied iosyste s . aplotype fre uencies ere es ti ated y gene counting. ene / aplotype di ersities and allele fre uencies ere calculated using t e Arle uin Soft are 3.0 . Analyses of Molecular Variance AM VA results ere assessed in t e for of ST alues using t e D online tool.

RESULTS: A ong sa ples of Tur ey dataset, all of t e

aplotypes ere uni ue. T e ig est gene di ersity as deter ined at D S3 a / and t e lo est as at D S3 locus. T e closest populations ere Sout eastern Anatolia, Tur is Cypriot and Cu uro a populations respecti ely.

CONCLUSION: T is study indicates recent population data of

ST ar ers in Tur is population it ig discri ination po er for forensic applications.

Keywords: ST , Tur iye, forensic sciences, population genetics.

Accepted: .0 . 0

n l Filo lu1, a a Altuncul1, le l l1, lif Merto lu2, Tolga orlu1, lten ayi o lu1, Cengi Sali 1

Corresponding author: Filiz Civil Arslan

Institute of Forensic Science, Istanbul University, Istanbul, Turkiye, email: gonulfiloglu@yahoo.com.tr

a o ologous c ro oso e. T e poly orp is of c ro oso e as idely een used y fo rensic e perts on identification and ale popu lation researc 3 . T e deter ination of ST

aplotype fre uencies in different populations is a a or point for t e proper interpretation of t e genetic profile atc es in paternity and forensic case or and infor ation on utation rates is also crucial in ins ip analysis . C ro o so e aplotype eference Data ase D

.y rd.org , a glo al ST aplotype data ase pro ides aplotype fre uency esti ates of

orld ide and ultiregional population groups . Since different ST ased population data fro t e arious regions of Tur ey are a aila le, e analy ed a collecti e data fro different geograp ic regions of Tur ey in order to create a o ogenous distri ution of Tur is population aplotype fre uencies using ST loci inclu ding D S , D S3 , D S3 , D S3 0, D S3 , D S3 , D S3 3, D S3 a / , D S 3 , D S 3 ,

D S 3 , D S , D S , D S , D S 3 , and

ATA and co pared our results it pre i ously pu lis ed ST researc es a out Tur is and ot er relati e / orld ide populations.

MATERIAL VE METHOD

T e lood or uccal s a sa ples ere collec ted fro ealt y, unrelated ale olunteers

it t eir infor ed consent fro stan ul ni ersity Cerra pa a Faculty of Medicine, lood Transfusion Center. T e sa ples ere c osen according to donors place of irt in order to represent all regions of t e Tur ey ased on population distri ution data of Tur ey Statisti cal nstitute in 0 0. DNA as e tracted fro

lood using t e Aa p DNA lood Mini it A N, ilden, er any and fro uccal s aps using C ele et od. C a plificati on as perfor ed using t e A pFlST filer A plification it, ic includes ST loci D S , D S3 , D S3 , D S3 0, D S3 , D S3 , D S3 3, D S3 a , D S 3 , D S 3 ,

D S 3 , D S , D S , D S , D S 3 and ATA . DNA sa ples ere a plified follo ing anufacturer s instructions A pFlST

filer C A plification it, Applied iosy ste s . T e a plified products ere separated and detected using an A ris 3 30 enetic Analy er Applied iosyste s, Foster City, CA,

SA according to t e anufacturer s reco ended protocol. esults ere analy ed using eneMapper D soft are Applied iosy ste s, Foster City, CA, SA . Alleles ere na ed according to t e updated nternational So ciety of Forensic enetics SF guidelines for forensic ST analysis .

aplotype fre uencies ere esti ated y gene counting. T e discri ination capacity DC as deter ined y di iding t e nu er of different aplotypes y t e total nu er of sa ples in t at population. aplotype di ersity as calcula ted according to Nei s for ula . Allele fre u encies and gene di ersity ere calculated using t e Arle uin Soft are 3.0 .

opulation pair ise genetic distances ST ere perfor ed y using analysis of olecu lar ariance AM VA tests on D online tool

ttp:// .y rd.org/Analyse/AM VA . ST a lues ere ascertained at a significance le el of 0.0 using 0,000 per utations. Also genetic distance as illustrated y using ulti di ensi onal scaling MDS analyses it S SS soft are. n genetic distance analyses, D S3 a / as not considered and t e nu er of repeats in D S3 as su tracted fro D S3 .

Tur is population results ST alues ere co pared it ei ing an n A003 0 , Spain alicia n 3 A000 , Cyprus Tur

is Cypriot n 3 A000 , srael and a lestinian Aut ority n 3 A003 3 , Macedo nia n 3 A0033 , Sout eastern Anatolia

n A003 , reece Nort ern reece n A003 , Cu uro a region Tur ey n A003 , nited States ispanic A e

INTRODUCTION

Tur ey, located on continents of urope and Asia actually ser es as a transcontinental ridge et

een ast and est, as e posed a great nu er of c anges since t e aleolit ic era to t e no present epu lic of Tur ey. T us t e con nection feature of Tur ey created a a or ari ety of social and et nic ci ili ations during any ages. Tur ey is ordered y eig t countries:

ulgaria to t e nort est reece to t e est eorgia to t e nort east Ar enia, ran and t e A er ai ani e cla e of Na ic e an to t e east and ra and Syria to t e sout east. T e Mediter ranean Sea is to t e sout t e Aegean Sea is to t e est and t e lac Sea is to t e nort , . T e c aracteristics t at a e ST s uni ue in t e u an geno e are t e paternal in eritan ce re ains unc anged a ong generations and anot er reason for its uni ueness is t e lac of

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Filo lu . et al. oly orp is of c ro oso e ST ar ers in Tur ey Filo lu . et al. oly orp is of c ro oso e ST ar ers in Tur ey

Allele DS DS3 DS3 DS3 0 DS3 DS3 DS3 3 DS 3 DS 3 DS 3 DS DS DS DS 3 ATA DS3 a/ enotypes DS3 0.00 8 0.03 0.0 0.03 0.0 1013 0.00 9 0.03 0.0 0.00 0. 0.03 0 0.00 . 1016 0.00 10 0. 0.0 0.03 0.3 0. 0.0 1021 0.00 0. 1022 0.00 11 0.03 0.00 0. 0.0 0.0 0. 0.3 0.0 1112 0.00 12 0.00 0.3 0.0 0.03 0. 0.3 0.3 0.3303 1113 0.0 13 0. 0. 0.0 0.3 0.00 0.330 0.03 0. 1114 0.00 14 0.3 0. 0.00 0.00 0.3 0.00 0.3 0.0 0.00 0.03 .3 1116 0.0 0.0 0.03 0.03 0.3 0.03 0.0 0. 1118 0.03 16 0.0 0.00 0.0 0.3 0. 1119 0.00 . 1212 0.00 0.0 0.00 0.00 0.03 0. 1213 0.03 . 1214 0.0 18 0.00 0.00 0.0 0.0 0.0 0.03 . 0.03 1216 0.00 19 0.00 0. 0.03 0.03 . 0.0 1218 0.0 20 0.00 0.33 0.03 0.0 1219 0.00 0. 1220 0.00 21 0.00 0.3 0. 1314 0.0 22 0. 0.00 0.3 3 0.0 Table 1:

Allele freuencies and gene diersity D of ST in Tur

is population continued net page

Allele DS DS3 DS3 DS3 0 DS3 DS3 DS3 3 DS 3 DS 3 DS 3 DS DS DS DS 3 ATA DS3 a/ enotypes DS3 23 0.33 0.0 0.30 1316 0.00 24 0.3 0.00 0.0 3 0.03 0.0 0.0 1318 0.0 26 0.00 0.00 0.00 1319 0.03 0.0 0.00 1320 0.00 28 0.0 1321 0.00 29 0.30 1414 0.00 30 0. 0.03 31 0.00 1416 0.03 32 0.0 0.03 33 0.0 1418 0.0 1421 0.00 0.03 0.00 0.03 0.00 0 0.00 1616 0.00 0.0 1618 0.00 1619 0.03 0.00 0.00 0.03 1922 0.00 D 0. 0.0 0.3 0. 0.3 0.03 0. 0.0 0. 0.0 0.0 0. 0. 0. 0. 0.

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ricans n 0 A0033 and nited States African A ericans n 3 A003 and A0033 3 populations . A uality control c ec as perfor ed using t e proficiency tes ting of t e ST s aplotyping uality Assurance

ercise 0 3 for t e ar ers included in t is study. T e data as su itted to C ro oso e aplotype reference data ase D ttp://

.y rd.org/ and is a aila le it t e acces sion nu er: A003 0 .

RESULTS

Allele fre uency, gene di ersity, and identified aplotype results are s o n in Ta le . A ong sa ples of Tur ey dataset, all of t e aploty pes ere uni ue. aplotype di ersity ere t e diploid loci D S3 a / e cluded as calcula ted 0. it discri ination capacity of .000.

ene di ersity alues of all loci differed fro 0. 3 for D S3 to 0. for D S3 a / . Alt

oug null alleles ere not found in t e Tur is dataset, t o duplicate alleles ere detected on locus D S3 . nter ediate alleles of . n and . n 0 ere o ser ed at D S lo cus. n order to define t e genetic relations ip

et een Tur ey and pre ious regional Tur is population studies and also ot er populations, pair ise genetic distances ST co parison as calculated and results are s o n in Ta le 3. esults s o ed t at t e ini u ST alues ere o tained fro pre ious Tur is population studies suc as Sout eastern Anatolia Tur ey ST 0.00 3, >0.0 , Tur is Cypriot ST 0.00 0, >0.0 , Cu uro a, Tur ey ST 0.00 , >0.0 respecti ely. T e o ser ed alues ere also confir ed t at t ere is no significant genetic distance et een our present and pre

ious studies on Tur is populations Ta le . Moreo er significant genetic distances ere o ser ed in t e co parison of Tur is population

it ot er co pared o are not Tur is po pulations. Tur is population eing ore distant fro t e al an, uropean and Middle astern cluster, suc as Nort ern reece ST 0.0 , <0.0 , Macedonia ST 0.03 , <0.0 , ali cia, Spain ST 0.0 3, <0.0 , srael ales tinian ST 0.0 , 0.0 . Asian and A e rican clusters suc as ispanic A erican ST 0. 0, <0.0 , African A erican ST 0. 3 0, <0.0 , C ina ST 0. , <0.0 ere t e fart est populations as e pected. llustrating t e relations ip et een populations ased on ST

alues are son aoe and

Φ

st alues elo te diagonal.

P v

alues in bold and it

alics r epr esen t s ta tis tic ally insignific an t diff er ences. †The le vel of signific ance is P < 0.01. opulation eiing, C ina an Cyprus Tur is Cypriot alicia, Spain Spanis srael alestinian Autority Area

Ara

Macedonia Macedonian

Nortern reece, ree

Souteastern Anatolia, Turey

Turis S African A erican S ispanic erican A uuro a, Turey Tur Turey eiing, Cina an 0 0 0 0 0 0 0 0 0 0

Cyprus Turis Cypriot

0. 0 0 0 0 0.0 0 0 0 0.0218

alicia, Spain Spanis

0. 0.0 0 0 0 0 0 0.000 0 0

srael alestinian Autority Area Ara

0. 0.0 0. 0 0 0 0 0 0 0 Macedonia Macedonian 0. 0.03 0.0 0. 0.00 0 0 0 0 0

Nortern reece, reece ree

0.0 0.0 0.0 0. 0.00 0 0 0 0.000 0

Souteastern Anatolia, Turey Turis

0. 0.00 0.0 0.0 0.03 0.03 0 0 0. 0.2435 S African Aerican 0.3 0. 0. 0. 0.0 0. 0.0 0 0 0 S ispanic Aerican 0.3 0.3 0.03 0. 0.0 0.0 0. 0. 0 0

uuroa, Turey Tur

0.3 0.0 0.0 0.0 0.0 0.0 0.00 0. 0.0 0.0117 Turey 0. 0.00 0.03 0.0 0.03 0.0 0.003 0.3 0. 0.00 Table 2:

Matri of pairise genetic distances ased on ST elo te d

iagonal and teir corresponding alues aoe

diagonal eteen te Turis population and te rest of popula

tions used in coparisons.

Figure 1: MDS plot ased on t e pair ise ST alues et een t e Tur is population and

neig oring / distant populations. A re iations: Tur: Tur is Tur ey A: alestinian srael and alestinian Aut ority area re: ree Nort ern reece SeA: Tur is Sout eastern Anatolia region Cu : Tur is Cu uro a region S A: ispanic nited Statets ispanic A erican SAA: African nited Statets African A erican ei: ei ing, C ina al: Spanis

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alues at MDS plot is outlined in Figure s o ed t at Tur ey clustered it Anatolian, al an and

uropean populations.

DISCUSSION AND

CONCLUSION

ST ar ers, located on t e non reco ining region of t e c ro oso e N , a e eco e an essential tool in forensic in estigation due to t eir uni ue eredity properties and ale spe cificity. A statistical approac s ould e carried out en t e e idence s ST profile atc es t e profile of t e suspect. ST aplotype da ta ases are i portant for understanding o co on / rare e idence profile is in t e rele ant population. So it is necessary to uestion popu lation data ase . n t is study e deter i ned t e allele fre uency and forensic statistical calculation for of ST loci in t e Tur is population and it is no a aila le for forensic purposes.

Tur ey is a large country it its ric istorical ac ground and uni ue geograp ical position fro ast to est continental ainland. Tur ey as een a crossroad for any ci ili ations: at tusa, ittites, ellenic, rygian, rartu, ydia,

ycia, onians, ersians, Macedonians, Ar eni ans, o ans, y antines, Sel u s and tto ans and t us is an a undant genetic pool it a ig et nic eterogeneity. T ere are fe re ar a le ST population studies on Tur is populati on t at are ainly focused on regional part of Tur ey or a e li ited nu er of ST loci , , 0, , . re ious studies s o ed t at t e Tur ey population is closer to t e uropean po pulations t an Asia , , . T e results of

t e present study indicated t e e istence of t e greatest genetic li eli ood et een Tur is po pulation studies and confir ed a close genetic relations ip et een Tur is and al an and

uropean populations.

t as also i portant to e p asi e t e inter e diate alleles t at could increase t e discri ina tion po er of DNA e idence t at ere o ser ed in D S locus . and . on our data set. T e ig fre uency of inter ediate alleles oc curs at locus D S t at is ost fre uently found in Nort ern / astern African, Caucasian and also in Tur is populations Tur is Cypriots, Cu uro a and Sout eastern Anato lian . Alt oug t ere are data suggesting t at locus D S ay e affected y a ig er u tation rate co pared to ot er tetra eric ST loci . T is study presents a recent population of data of ST loci in t e o ogenous distri

ution of t e Tur is population for t e forensic

co unity.

ETHICAL APPROVAL

T is study as appro ed y t e t ics Co it tee of t e stan ul ni ersity, Faculty of Medici ne.

ACKNOWLEDGEMENTS

T is researc as supported y stan ul ni er sity Scientific esearc ro ects nit A under

pro ect nu ers 0 and 0/ 0 000 .

T e aut ors ould li e to t an t e Depart ent of Foreign anguages at stan ul ni ersity for editing to prepu lication anuscript.

Filo lu . et al. oly orp is of c ro oso e ST ar ers in Tur ey Filo lu . et al. oly orp is of c ro oso e ST ar ers in Tur ey

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Bu dileğe değil köylerimiz, Vilâyetlerimiz bi-

Atelye muallimle- rinin nezaretleri altında hazırlanan bu projeler sayesinde talebeler, nazariyatla öğrendikleri malûmatı, tatbika muvaffak olmaktadırlar.. Atelye,

Burada altı kata kadar inşaata müsaade vardır.. 2 inci mıntaka — Eski tahkimat sahasında- ki