دورية أكاديمية
SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.
| العنوان: | SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression. |
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| المؤلفون: | Arnoni CP; Colsan, Blood Collection Centre, São Paulo, Brazil., De Paula Vendrame TA; Colsan, Blood Collection Centre, São Paulo, Brazil., Muniz JG; Colsan, Blood Collection Centre, São Paulo, Brazil., Gazito D; Colsan, Blood Collection Centre, São Paulo, Brazil., De Medeiros Person RD; Colsan, Blood Collection Centre, São Paulo, Brazil., Pereira Cortez AJ; Colsan, Blood Collection Centre, São Paulo, Brazil., Latini FRM; Colsan, Blood Collection Centre, São Paulo, Brazil., Castilho L; INCTs, Unicamp Blood Centre, Campinas, Brazil. |
| المصدر: | Blood transfusion = Trasfusione del sangue [Blood Transfus] 2019 Jan; Vol. 17 (1), pp. 60-65. Date of Electronic Publication: 2018 Jan 11. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: SIMTI servizi Country of Publication: Italy NLM ID: 101237479 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2385-2070 (Electronic) Linking ISSN: 17232007 NLM ISO Abbreviation: Blood Transfus Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Milano : SIMTI servizi |
| مواضيع طبية MeSH: | Alleles* , Blood Donors* , Gene Expression Regulation* , Polymorphism, Single Nucleotide*, Blood Group Antigens/*biosynthesis , Membrane Proteins/*genetics, Blood Group Antigens/genetics ; Brazil ; Female ; Gene Frequency ; Humans ; Male ; Membrane Proteins/metabolism |
| مستخلص: | Background: Vel is a high frequency blood group antigen and its alloantibody is involved in haemolytic transfusion reactions. After elucidation of the molecular basis of the Vel-negative phenotype defined by a 17-base pair deletion in SMIM1, genotyping has been the technique of choice to identify the Vel-negative phenotype, and molecular investigations have contributed to explain Vel expression variability. The present study was aimed at screening for Vel negative blood donors and characterising the genetic changes found in Brazilian donors with altered Vel expression. Materials and Methods: Molecular screening for the SMIM1*64_80del allele was performed in 1,595 blood donor samples using a SNaPshot protocol previously standardised in our laboratory. Four hundred donor samples were also submitted to serological screening using a polyclonal anti-Vel from our inventory. Samples with variability in antigen strength were selected for SMIM1 sequencing. Results: No homozygous SMIM1*64_80del allele was found and the SMIM1*64_80del allele frequency was 1.01%. Different patterns of reactivity were observed in serological testing varying from negative to 3+. Through sequencing analysis we highlighted two polymorphisms: rs1175550 and rs6673829. The minor G allele of rs1175550 was found in 16/20 samples reacting 3+, while the major A allele was found in 21/23 samples reacting 2+. Regarding rs6673829, the minor A allele was present in 14/23 and 3/20 samples reacting 2+ and 3+ respectively. Discussion: We included molecular VEL screening in a previously standardised SNaPshot protocol, which besides enabling detection of Vel-negative donors, also searches for eight other rare blood types. Additionally, the present study demonstrated that although the SMIM1*64_80del allele is responsible for some variation of Vel phenotype in this donor population, Vel expression is also controlled by molecular changes in SMIM1 intron 2. |
| References: | Nat Genet. 2013 May;45(5):542-545. (PMID: 23563608) Immunohematology. 2015;31(2):53-7. (PMID: 26495889) Rev Hematol. 1952;7(3):368-71. (PMID: 13004554) Transfus Med. 2016 Oct;26(5):355-359. (PMID: 27328373) Transfusion. 2016 Jun;56(6):1430-4. (PMID: 27060345) Transfus Med Hemother. 2015 Nov;42(6):356-60. (PMID: 26732700) EMBO Mol Med. 2013 May;5(5):751-61. (PMID: 23505126) Nat Genet. 2013 May;45(5):537-41. (PMID: 23563606) Transfusion. 2015 Jun;55(6 Pt 2):1457-66. (PMID: 25647324) Transfusion. 2016 Apr;56(4):946-9. (PMID: 26666208) Blood Transfus. 2014 Jan;12 Suppl 1:s256-63. (PMID: 23736910) |
| المشرفين على المادة: | 0 (Blood Group Antigens) 0 (Membrane Proteins) 0 (SMIM1 protein, human) |
| تواريخ الأحداث: | Date Created: 20180309 Date Completed: 20190405 Latest Revision: 20200306 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC6343599 |
| DOI: | 10.2450/2018.0192-17 |
| PMID: | 29517970 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2385-2070 |
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| DOI: | 10.2450/2018.0192-17 |