English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

ABS TRACT Ob jec ti ve: The β-tha las se mi a (β-thal) is a di ver se gro up of he mog lo bin di sor ders cha rac te ri zed by a re du ced or ab sent synthe sis of the glo bin cha ins of he mog lo bin (Hb) mo le cu le. Hemog lo bin be ta ge ne (HBB) is res pon sib le for synthe sis of be ta glo bin cha in, and has many mu ta ti ons, chan ging from a po pu la ti on to ot her. β-thal is an im por tant he alth prob lem in the Şanlıurfa pro vin ce pla ced in So ut he as tern Ana to li a Re gi on of Tur key. We ai med to in ves ti ga te the fre qu ency of the HBB ge ne NM_000518.4:c.93-21G>A (IVS1-110G>A or g.252G>A), c.25_26de lA A (Cd8 -AA or g.75_76de lA A), and c.315+1G>A (IVS2-1G>A or g.496G>A) mu ta ti ons which we re the most com mon in Tur key by using amp li fi ca ti on ref rac tory mu ta ti on system-poly me ra se cha in re ac ti on (ARMSPCR). Ma te ri al and Met hods: Blo od samp les we re col lec ted from 51 pa ti ents with β-thal (25 ma les and 26 fe ma les), and DNA was iso la ted by using sal ting out pro ce du re. The nor mal and mu tant al le les of the HBB ge ne c.93-21G>A, c.25_26de lA A, and c.315+1G>A we re amp li fi ed by using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) met hod in two dis tinct PCR tu bes. The PCR pro ducts we re exa mi ned on the aga ro se gel for pre sen ce of DNA mar ker. Re sults: The fre qu ency of the c.93-21G>A, c.25_26de lA A, and c.315+1G>A mu tant al le les in 28 of 51 pa ti ents was de tec ted as 26.5%, 3.9%, and 3.9%, res pec ti vely. Conc lu si on: This study was the first re se arch of βthal mu ta ti ons in this pro vin ce, and sho wed that the c.93-21G>A mu ta ti on was the most fre qu ent in this pro vin ce among thre e mu ta ti ons by ARMS-PCR met hod, and dif fe rent from tho se re por ted in Cen tral Ana to li a, Ae ge an and Me di ter ra ne an re gi ons of Tur key. This re se arch may fa ci li ta te the imp le men ta ti ons of ge ne tic co un se ling and pre na tal di ag no sis in the po pu la ti on of Şanlıurfa.

Investigation of β-Globin Gene Mutations in Patients with β-Thalassemia in Şanlıurfa Province of Turkey