We have located links that may give you full text access.
Genotyping of the ABCG2 gene using Matrix-Associated Laser Desorption/Ionisation, Time-of-Flight Mass Spectrometry.
Transfusion Medicine 2018 June
OBJECTIVES: The aim of this study was to evaluate the applicability of genotyping of the ABCG2 gene using MALDI-TOF MS and to estimate the allele frequency in the Japanese population.
BACKGROUND: Jr (a-) phenotype has a prevalence of approximately 0·05% among Japanese blood donors; DNA-based genotyping was conducted to investigate the molecular basis of the Jr (a-) phenotype along with serological typing. To detect all SNPs of the ABCG2 gene, a high-throughput SNP genotyping platform is needed.
METHODS: Overall, 1004 Jr (a-) blood samples were collected from blood donors in Japan and pre-genotyped. To detect the SNPs of the ABCG2 gene using MALDI-TOF MS, polymerase chain reaction and unextend primer were designed. In total, 205 Jr (a-) samples were genotyped using MALDI-TOF MS analysis.
RESULTS: The SNPs of 1004 Jr (a-) samples were identified using the HRM analysis and DNA sequencing, and 799 of 1004 (80%) Jr (a-) samples had the homozygous for c.376 T. The designed primers for MALDI-TOF MS perfectly detected the SNPs of the ABCG2 gene. A total of 205 Jr (a-) samples were genotyped using MALDI-TOF MS. Calling failures occurred in only two samples with the mutations c.736CT to c.376C and c.421C to c.421CA. The concordance rate between the pre-genotyped and MALDI-TOF MS-based genotyping results was very high (99·02%) for all ABCG2 alleles.
CONCLUSIONS: Jr (a-) Japanese donors had almost the homozygous for c.376 T. However, detections of more than 20 SNPs of the ABCG2 gene for the JR blood group genotyping are needed. MALDI-TOF MS-based genotyping was highly concordant with the pre-genotyped results for all ABCG2 alleles.
BACKGROUND: Jr (a-) phenotype has a prevalence of approximately 0·05% among Japanese blood donors; DNA-based genotyping was conducted to investigate the molecular basis of the Jr (a-) phenotype along with serological typing. To detect all SNPs of the ABCG2 gene, a high-throughput SNP genotyping platform is needed.
METHODS: Overall, 1004 Jr (a-) blood samples were collected from blood donors in Japan and pre-genotyped. To detect the SNPs of the ABCG2 gene using MALDI-TOF MS, polymerase chain reaction and unextend primer were designed. In total, 205 Jr (a-) samples were genotyped using MALDI-TOF MS analysis.
RESULTS: The SNPs of 1004 Jr (a-) samples were identified using the HRM analysis and DNA sequencing, and 799 of 1004 (80%) Jr (a-) samples had the homozygous for c.376 T. The designed primers for MALDI-TOF MS perfectly detected the SNPs of the ABCG2 gene. A total of 205 Jr (a-) samples were genotyped using MALDI-TOF MS. Calling failures occurred in only two samples with the mutations c.736CT to c.376C and c.421C to c.421CA. The concordance rate between the pre-genotyped and MALDI-TOF MS-based genotyping results was very high (99·02%) for all ABCG2 alleles.
CONCLUSIONS: Jr (a-) Japanese donors had almost the homozygous for c.376 T. However, detections of more than 20 SNPs of the ABCG2 gene for the JR blood group genotyping are needed. MALDI-TOF MS-based genotyping was highly concordant with the pre-genotyped results for all ABCG2 alleles.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
A Guide to the Use of Vasopressors and Inotropes for Patients in Shock.Journal of Intensive Care Medicine 2024 April 14
Diagnosis and Management of Cardiac Sarcoidosis: A Scientific Statement From the American Heart Association.Circulation 2024 April 19
Essential thrombocythaemia: A contemporary approach with new drugs on the horizon.British Journal of Haematology 2024 April 9
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app