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Določitev krvne skupine in podskupine ABO z novimi metodami na kliničnem primeru
ID Jelovčan, Monika (Author), ID Rajčević, Uroš (Mentor) More about this mentor... This link opens in a new window, ID Dovč Drnovšek, Tadeja (Comentor)

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Abstract
Krvno skupino ABO je potrebno določiti krvodajalcem pred uporabo njihove krvi za transfuzijo in pacientom, ki potrebujejo transfuzijo krvi. V magistrski nalogi smo na primeru krvodajalke zaradi neskladja rezultatov pri serološki določitvi KS ABO le to določili še njenim sorodnikom (mami, teti, bratu in očetu). KS ABO smo poskušali določiti z različnimi serološkimi metodami, z molekuarno-biološkima metodama PCR-SSP in NGS. Da bi potrdili krvno skupino B, smo vzorce krvodajalke, njenih sorodnikov in 12 referenčnih vzorcev iz Registra tipiziranih dajalcev sekvencirali z novim komercialnim setom za sekvenciranje gena ABO z metodo NGS (Omixon) na platformi Illumina. Večina genotipov referenčnih vzorcev se, zaradi uporabe napačne nomenklature v programski opremi proizvajalca Omixon, ni skladala s pričakovanimi genotipi dobljenimi z metodo PCR-SSP. Po primerjavi dobljenih nukleotidnih zaporedij z referenčnimi zaporedji smo ugotovili, da je bilo sekvenciranje pravilno in se zaporedja ujemajo z referencami. Proizvajalec je napačno uporabil dovoljeno nomenklaturo združenja ISBT. Pri krvodajalki, mami in teti podskupine B nismo potrdili. Pri vseh treh smo na mestu 533 v intronu 5 alela B našli mutacijo A>C, ki pa ni omenjena v nobeni podatkovni bazi. Komercialni set za določitev KS ABO z metodo NGS bi z nekaterimi izboljšavami bil lahko uporaben za določitev KS.

Language:Slovenian
Keywords:krvna skupina ABO, gen ABO, sekvenciranje, NGS
Work type:Master's thesis/paper
Typology:2.09 - Master's Thesis
Organization:BF - Biotechnical Faculty
Year:2022
PID:20.500.12556/RUL-141778 This link opens in a new window
COBISS.SI-ID:126156547 This link opens in a new window
Publication date in RUL:08.10.2022
Views:902
Downloads:111
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Secondary language

Language:English
Title:Determination of the ABO blood group and subgroup with new methods on a clinical case
Abstract:
The ABO blood group must be determined for blood donors before use of their blood for transfusion and for patients requiring blood transfusion. In our work, due to the discrepant serological results of ABO donor blood group determination, the relatives (mother, aunt, brother and father) were tested as well. Blood group was determined with different serological and molecular methods, as PCR–SSP and NGS. Due to the suspicion of subgroup B, the donor, her relatives and 12 reference samples from the Registry of typed donors were sequenced using a new commercial kit for ABO sequencing with NGS method (Omixon) on the Illumina platform. Most of the determined references samples genotypes were incorrect comparing to the expected genotypes obtained by the PCR-SSP due to the incorrect use of allowed ISBT nomenclature by Omixon software. The alignment of obtained samples sequences with references shows the correct sequencing and matching. Subgroup B was not confirmed at blood donor, mother and aunt. In all three, a mutation A>C at position 533 in intron 5 of the B allele, which can not be found in any database. With some improvements, the used commercial set for determining blood group ABO by NGS could be used.

Keywords:blood group ABO, ABO gene, sequencing, NGS

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