Variations of three single nucleotide polymorphisms in ABCG2 modify Jra expression

Ogiyama, Yoshiko; S, Itó; Michiyo, Irino; Tomoko, Hishinuma; Tomomi, Asano; Masanori, Ooyama; Shimizu, Hiroshi; Nakagawa, Kunitoshi; Minegishi, Masayoshi; Osabe, Takahiro; Ogasawara, Kunio; Wada, Ikuo; Hitoshi, Ohto

doi:10.5348/100047z02yo2019ra

Cited by 3 publications

(4 citation statements)

References 12 publications

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Section: Resultsmentioning

confidence: 98%

“…Similarly, in Junior blood group system, the weak allele ABCG2*01W.01, manifesting the Jr a+w phenotype, 34,35 is observed in 36% of the indigenous population. Frequency of this allele was found to vary distinctly from rest of the global populations (African : 1000 Genomes -1.3% , East Asian : 1000 Genomes -3.0% , South Asian : 1000 Genomes -9.7 % , European : 1000 Genomes -9.4% , American : 1000 Genomes -14% )…”

Section: (Which Was Not Certified By Peer Review)mentioning

confidence: 99%

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Genomic map of blood group alleles in Malaysian indigenous Orang Asli population from whole genome sequences

Rophina

Kak

Sivasubbu

et al. 2021

Preprint

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PurposeDifferences in the distribution of RBC antigens defining the blood group types among different populations have been well established. However, very few studies exist that have explored the blood group profiles of indigenous populations worldwide. With the rapid advent of next generation sequencing techniques and availability of population scale genomic datasets, we have successfully explored the blood group profiles of the Orang Aslis, who are the indigenous population of Malaysia and provide a systematic comparison of the same with major global population datasets.MethodsVariant call files from whole genome sequence data (hg19) of 114 Orang Asli were retrieved from The Orang Asli Genome Project (OAGP). Systematic variant annotations were performed using ANNOVAR and only those variants spanning genes of 43 blood group systems and transcription factors KLF1 and GATA1 were filtered. Blood group associated allele and phenotype frequencies were determined and were duly compared with other datasets including Singapore Sequencing Malay Project (SSMP), aboriginal western desert Australians and global population datasets including The 1000 Genomes Project and gnomAD.ResultsThis study reports 4 alleles (rs12075, rs7683365, rs586178 and rs2298720) of DUFFY, MNS, RH and KIDD blood group systems which were significantly distinct between indigenous Orang Asli and cosmopolitan Malaysians. Eighteen (18) alleles which belong to 14 blood group systems were found distinct in comparison to global population datasets. Although not much significant differences were observed in phenotypes of most blood group systems, major insights were observed on comparing Orang Asli with aboriginal Australians and cosmopolitan Malaysians.ConclusionThis study serves as the first of its kind to utilize genomic data to interpret blood group antigen profiles of the Orang Asli population. In addition, systematic comparison of blood group profiles with related populations were also analysed and documented.

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Section: Resultsmentioning

confidence: 98%

Section: (Which Was Not Certified By Peer Review)mentioning

confidence: 99%

Genomic map of blood group alleles in Malaysian indigenous Orang Asli population from whole genome sequences

Rophina

Kak

Sivasubbu

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…Until 2019, as confirmed by the ISBT Working Party on Red Cell Immunogenetics and Blood Group Terminology, 28 mutations can cause the Jr(a‐) phenotype, and 2 mutations of Jr(a + w) exist. Except the coding area, some research mentioned the mutation in non‐coding exon 1 would influent the Jr a antigen expression 28 …”

Section: Discussionmentioning

confidence: 99%

“…Except the coding area, some research mentioned the mutation in non-coding exon 1 would influent the Jr a antigen expression. 28 Continuous improvement of the molecular biological basis of JR blood type allows the easier identification of the Jr(a-) phenotype. However, the known single nucleotide polymorphisms (SNP) checking can barely detect new mutations.…”

Section: Discussionmentioning

confidence: 99%

Hemolytic disease of the newborn due to anti‐Jra from a Chinese mother with one novel and one classic heterozygous mutation

Xiao

Yang

Gao

et al. 2023

Transfusion Medicine

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Objective Investigation of a Jr(a‐) family samples, identification of the mutant and assessment of the differences of Jr antigen density of the Jr(a‐) family members, random adult and newborn individuals' RBCs. Background The anti‐Jra antibody is generated when a Jr(a‐) individual pregnant or transfused with Jr(a+) blood unit, which can lead to mild‐to‐moderate hemolytic disease of the foetus and newborn (HDFN) or hemolytic transfusion reaction (HTR). Several mutations had been identified. The anti‐Jra caused HDFN is not rare in East Asia, but due to the lack of antibody and molecular background, it is likely to lead missed detection. Methods and Materials One G4P1 woman had been detected as IAT positive during prenatal examination. Suspected as anti‐Jra after the laboratory serological testing, the maternal sample was further assessed by molecular analysis. The antigen density was detected by flow cytometry after reacting with anti‐Jra serum in family members and the normal individuals. Results One novel frameshift mutation c.717delC and one previously identified mutation c.706C > T in ABCG2 was identified on proband. The infant haemoglobin(Hb) and bilirubin increased significantly after exchange transfusion and the severe HDFN was relieved. Flow cytometry results showed that the Jra antigens on adult RBCs were significantly less than those on the infant. Conclusion The c.717delC mutation can lead to the shortening of protein ABCG2 in the site of p.Leu307Stop, result in the loss of Jra antigen. The difference in antigen density between adult and infant RBCs may be a possible reason that leads to severe HDFN but not transfusion reaction. Breastfeeding may lead to slower recovery from HDFN.

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In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations

Rophina,

Kek,

Sivasubbu

et al. 2023

J Genet

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Variations of three single nucleotide polymorphisms in ABCG2 modify Jra expression

Cited by 3 publications

References 12 publications

Genomic map of blood group alleles in Malaysian indigenous Orang Asli population from whole genome sequences

Genomic map of blood group alleles in Malaysian indigenous Orang Asli population from whole genome sequences

Hemolytic disease of the newborn due to anti‐Jra from a Chinese mother with one novel and one classic heterozygous mutation

In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia with major global populations

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