Non-Sendromik Yarlk Dudak/Damakll Olgularda ACOD4 Geni Mutasyon Analizi

Yıl 2007, Cilt: 8 Sayı: 1, 31 - 35, 01.04.2007

Mehmet Ali Sözen Marie M Tolarova Richart A Sprıtz

Öz

Anahtar Kelimeler

-

Non-Sendromik Yarlk Dudak/Damakll Olgularda ACOD4 Geni Mutasyon Analizi

Öz

Non-sendromik yank dudak ve/veya damak
(nsYD/D= nsCLIP, MIM 119530) en yaygm bashca dogum
defektlerinden biridir. Bircok aday gen alel iliskilendirme
metodu ile non-sendromik yank dudak/damak
malformasyonunda olasi rol ahp almadigiru test etmek icin
cahsilnusnr. Kromozom yeniden dtizenlemelerine sahip
nadir olgular, ilgilenilen bir hastahk icin aday genleri belirlemede
essiz ipuclan saglayabilir. Son zamanlarda, bu
sekildeki iki cahsma yeni kromozom yeniden diizenlenmeleri
belirlemis ve bu suretle non-sendromik yank dudak/damak
hastaligr icin iki yeni aday gen ortaya cikarrrnsttr:
CLPTMI ve ACOD4. Buna dayali olarak, biz
ACOD4 geninin non-sendromik yank dudak/damak hasta- .
hgindaki potansiyel roltinti belirlemek icin ilgili gende
mutasyon analizi gerceklestirdik. Kuzey Venezuella'dan
toplam 96 hastada ACOD4 geninin kodlayan be~
ekzonunda mutasyon taramasi gcrceklestirdik, Iki hastada
ACOD4 geninin 4. ekzonunda bir sessiz mutasyon,
Ala241 Ala, belirledik ve baska herhangi bir vary ant
bulamadik. Sonuc olarak, bu bulgular ACOD4 geninin
nsYD/D malformasyonu gelisiminde yaygm bir genetik
risk faktoru oldugunu, en azindan bu arastirmada cahsilan
giiney Amerika' h (Venezue11 a) populasyonda,
desteklememektedir

Anahtar Kelimeler

ACOD4 geni, perisentrik inversiyon, yarık dudak, yarık damak, mutasyon analizi

Kaynakça

• Vanderas AP. lncidence of cleft lip, cleft palate, and
• cleft lip and palate among races: a review. Cleft
• Palate J. 1987: 24: 216-225.
• Tolarova MM, Ccrvenka J. Classification and birth
• prevalence of orofacial clelts. Am J Med Genet, 1998; 75: 126—137.
• Schutte BC. Murray JC. The many faces and factors
• oforofacial clefts. llum Molec Genet, 1999: 81 1853- 1859.
• Blanco R. Suazo J. Sant0s JL. Paredes M. Sung H, Carreno H, Jara L. 'Association between 10 microsatellitc markers and nonsyndroınic cleft lip palate in the Chilean population. Cleft Palate Craniofac J. 2004; 41: 163-167.
• Marazita ML. Field LL. Cooper ME, Tobias R, Maher BS. Peanclıitlertkajorn S, Liu YE. Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions. Cleft Palate Craniofac J, 2002; 39: 149-156.
• Marazita ML. Field LL, Cooper ME, Tobias R, Maher BS, Peanchitlertkajorn S. Liu YE. Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. Am J l-lum Genet. 2002; 71: 349—364.
• Warrington A. Vieira AR. Christensen K. Orioli IM, Castilla EE. Romitti PA. Murray JC. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J Med Genet. 2006: 43: e26.
• Mitchell LE. Healey SC, Chenevix—Trench G. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Am J Hum Genet. 1995: 57: 1130-1136.
• Beiraghi S. Foroııd T, Diouhy S, Bixler D. Conneally PM, Delozier-Blanchet D, Hodes ME. Possible localization ofa major gene for cleft lip and palate to 4q. Clin Genet. 1994: 46: 255-256. No abstract available
• Kobayashi J. Kimijima Y, Yamada S. Amagasa T. Saito-Ohara F. 4p— syndrome and 9p tetrasomy mosaicism with cleft lip and palate. J Craniomaxillofac Surg. 2000; 28: 165-70.
• Non—Sendromilr Yarı/( Dudak/Damaklı Olgularda ACO/M Geni Mulasyon Analizi /
• Mutation Analysis of A C OD4 Gene in Cases with Non—syndromic Cle/t Lip/Palate
• Zellweger H, Bardach J, Bordwell J, Williams K. The short arm deletion syndrome of chromosome 4 (4p- syndrome). Arch Otolaryngol, 1975; 101: 29-32.
• van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK MSX] mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet, 2000; 24: 342-343.
• Butler LJ, Palmer AV, Spencer T, Tabios-Broadway R, Wall WJ. A new interstitial deletion of Chromosome No. 4 del(4) (q22::q25). Clin Genet, 1987; 31: 199-205.
• Raczenbek C, Krassikoff N, Cosper P. Second case report of del(4) (q25q27) and review ofthe literature. Clin Genet, 1991: 39: 463-466.
• Kulharya AS, Maberry M, Kukolich MK, Day DW, Schneider NR, Wilson GN, Tonk V. Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly. Am J Med Genet. 1995; 55: 165-170.
• Fujimoto A, Reddy KS, Spinks R. Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4). Am J Med Genet, 1998', 75: 78-81.
• Strehle EM, Ahmed OA, l'lameed M, Russell A. The 4q-Syndrome. Genet Couns, 2001; 12: 327-339
• Gemmill RM, West JD. Boldog F, Tanaka N.
• Robinson LJ, Smith D1, Li F, Drabkin HA. The
• hereditary renal cell carcinoma 3;8 translocation fuses
• FHIT to a patched-related gene, TRC8. Proc Natl
• Acad Sci U S A, 1998; 95: 9572-9577.
• Yoshiura K. Machida J, Daaek-Ilirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC. Characterization ofa novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with Cleft lip and palate. Genomics, 1998; 54: 231-240.
• Beiraghi S, Zhou M, Talmadge CB. Went-Suınegi N, Davis JR, Iluang D, Saal H, Seemayer TA, Sumegi J. Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(pl3.lq21.l) in a family with cleft lip. Gene. 2003 24;309(l):11-21.
• Polski JM, Kimzey S, Percival RW, Grosso LE. Rapid and effective processing of blood specimens for diagnostic PCR using filter paper and Chelex-lOO. Mol Pathol, 1998; 51: 215-217.
• _ . Lee ST, Park SK, Lee KH, Holmes SA and Spritz
• RA. A non-radioactive method for simultaneous
• detection of single-strand conformation
• polymorphisms (SSCPS) and heteroduplexes. Mol
• Cells, 1995; 5: 668—672.
• Kocatepe Tıp Derg/Xi, ('ıll 8 Nr): [, ()L'ak 2007.