Türk Popülasyonunda Superoksid Dismutaz A (SOD A) Enziminin Polimorfizmi, Alel Sıklığı ve Aktivitesi

Öz

Turk populasyonunun genetik yaplsml belirlemek, adli kimliklendirme ve paternite tayininde kullamlmak uzere veri taham olu~turmak amaClyla yapllan bu ara~tlrmada, eritrositlerde hulunan Cu-Zn superoksid dismutaz (SOD A) enzimininfenotipleri, selluloz asetat elektroforez yontemi ife belirlendi ve aiel slklzklarz hesaplandl. Toplam 250 saglzklz bireyde yapdan bu ara~tlrmada bir bireyde, ozellikle Kuzey Avrupa populasyonlarznda ve olduk~'a nadir gorulen 2-1 fenotipi saptandl. Aiel slklzklarz; SOD A*l ir;in 0.998±0.0019 ve SOD A*2 ir;in 0.002±0.0019 olarak helirlendi. SOD A enzim sistemi Hardy-Weinberg yasasma uygun hulundu (c2 = 0.001, p>0.05). Turk populasyonu i~'in SOD A enzim aktivitesi 1608.56 ± 677.94 Ulg Hh olarak saptandl. Ara~tlrma, soz konusu enzimin Turk populasyonu ir;in polimorfizm ve aiel slklzgml gosteren ilk veri olmasl nedeni ife sunuldu.

Anahtar Kelimeler

• Süperoksid dismutaz
• Enzim
• Polimorfizm

Kaynakça

1. Klhl; K. Kanserde oksijen radikalleri ve siiperoksid dismutaz. Biyokimya Derg, 1986; Cilt XI, 3: 59-76.
2. Klhl; K. Oksijen radikalleri: iiretilmeleri fonksiyon1anve toksik elkileri. Biyokimya Derg, 1985; Cilt X, 2: 59-89.
3. Huret JL, Delabar JM, Marhens F, Aurias A, Nicole A, Berthier M, Tanzer J, Sinet PM. Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality. Hum Genet, 1987; 75: 251-257.
4. Church SL, Grant JW, Meese EU, Trent JM. Sublocalisation of the gene encoding manganase superoxide dismutase (MnSOD/SOD2) to 6q25 by fluorescence in situ hybridisation and somatic cell hybrid mapping. Genomics, 1992; 14: 823-825.
5. Paphia SS, Al-Agidi SK. Esterase D and superoxide dismutase po1ymorphisms in Iraq. Hum Hered, 1976; 26: 394-400.
6. McKusick VA. Mendelian Inheritance in Man., 10th ed. Baltimore and London: The Johns Hopkins University Press, 1992: 611-613.
7. DeCroo S, Kamboh MI, Leppert M, Ferrell RE. Isoelectric focusing of superoxide dismutase: report of the unique SOD A *2 allel in a US white population. Hum Hered, 1988; 38: 1-7.
8. Akbari MT, Papiha SS, Roberts DF, Farhud DD. Serogenetic investigations of two populations of Iran. Hum Hered, 1984; 34: 371-377.

9. Nazarova AF. The genetic structure of populations of Chuckotka Peninsula Eskimos and Chuckhi based on the study of 13 loci of serum and erythrocyte proteins and enzymes. Am J Physc Anthrop, 1989; 79: 81-88.
10. Chahal SMS, Sidhu BK, Mahajan A. Biochemical variation in the Sunni Muslims of Pulwama district Jammu and Kashmir. Hum Hered, 1989;. 39: 113-115.
11. Saha N. Blood genetic markers in Bengali Muslims of Bangladesh. Hum Hered, 1987; 37: 86-93.
12. Saha N, Goswami HK. Some blood genetic markers in the Korkus of Central India. Hum Hered, 1987; 37: 273-277.
13. Bayoumi RA, Saha N. Some blood genetic markers of the Nuba and Hawazma tribes of Western Sudan. Am J Physc Anthropol, 1987; 73: 379-388.
14. Papiha SS, Roberts DF. Genetic polymorphisms in Afghanistan. Ann Hum Bio, 1977; 4(3): 233-241.
15. Beretta M, Mazzetti P, Frosina G, Schiliro G, Russo A, Russo G, Barrai I. Population structure of Eastern Sicily. Hum Hered, 1986; 36: 379-387.
16. Weimer TA, Reiger TT, Salzano FM. Occurrence of a rare variant of superoxide dismutase in Brazil. Hum Hered, 1987; 37(1): 26-29.
17. Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995 May; I 0(1 ):6 i -6.
18. Said Ahmed M, Hung WY, Zu JS, Hockberger P, Siddique T: Increased reactive oxygen species in familial amyotrophic lateral sclerosis with mutations in SODI. J Neurol Sci, 2000; 176(2):88-94.
19. Hirano M, Fujii J, Nagai Y, Sonobe M, Okamoto K, Araki H, Taniguchi N, Ueno S.: A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun, 1994; 204(2): 572-7 (Abstract).
20. Robberecht W, Sapp P, Viaene MK, Rosen D, McKenna-Yasek D, Haines J, Horvitz R, Theys P, Brown R Jr: Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis. J Neurochem, 1994; 62(1): 384-387.
21. Podozasy JJ, Wei R. Reduction of Iodonitrotetrazolium Violet by Superoxide Radicals. Biochem Biophys Res Comm, 1988; 150: 1294-1301.