Multiplex ligation-dependent probe amplification (MLPA) assay for blood group genotyping, copy number quantification, and analysis of RH variants
Paid access
|Oct 2019References
- Denomme GA. Prospects for the provision of genotyped blood for transfusion. Br J Haematol 2013;163:3–9.
- Veldhuisen B, van der Schoot CE, de Haas M. Blood group genotyping: from patient to high-throughput donor screening. Vox Sanguinis 2009;97:198–206.
- Haer-Wigman L, Veldhuisen B, Jonkers R, et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation– dependent probe amplification. Transfusion 2013;53:1559–74.
- Haer-Wigman L, Ji Y, Lodén M, et al. Comprehensive genotyping for 18 blood group systems using a multiplex ligation-dependent probe amplification assay shows a high degree of accuracy. Transfusion 2013;53(11 Suppl 2): 2899–909.
- Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
- Reid ME, Lomas-Francis C. The blood group antigens factsbook. 2nd ed. New York: Academic Press, 2004.
- Cvejic A, Haer-Wigman L, Stephens JC, et al. SMIM1 underlies the Vel blood group and influences red blood cell traits. Nat Genet 2013;45:542–5.
- Storry JR, Jöud M, Christophersen MK, et al. Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype. Nat Genet 2013;45:537–41.
- Ji Y, Veldhuisen B, Ligthart P, et al. Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population. Transfusion 2014;55:413–21.
- Roelfsema JH, White SJ, Ariyürek Y, et al. Genetic heterogeneity in Rubinstein-Taybi Syndrome: mutations in both the CBP and EP300 genes cause disease. American J Hum Genet 2005;76:572–80.
- Daniels G. Variants of RhD current testing and clinical consequences. Br J Haematol 2013;161:461–70.
- Haspel RL, Westhoff CM. How do I manage Rh typing in obstetric patients? Transfusion 2015;55:470–4.
- He J, Ying Y, Hong X, Xu X, Zhu F, Lv H. Molecular basis and zygosity determination of D variants including identification of four novel alleles in Chinese individuals. Transfusion 2015;55:137–43.
DOI: https://doi.org/10.21307/immunohematology-2019-071 | Journal eISSN: 1930-3955 | Journal ISSN: 0894-203X
Language: English
Page range: 58 - 61
Published on: Oct 26, 2019
Published by: American National Red Cross
In partnership with: Paradigm Publishing Services
Publication frequency: 4 times per year
Keywords:
Related subjects:
© 2019 B. Veldhuisen, C.E. van der Schoot, M. de Haas, published by American National Red Cross
This work is licensed under the Creative Commons License.