The Korean Journal of Blood Transfusion

Table. 5.

Table. 5. Table 5

Molecular characteristics of 8 serological D-- blood donors

No.	Location	Nucleotidechanges	Predicted amino acid changes	RHCE structure	ISBT allele name	Predicted phenotype	rs number
1	Exon 1	c.48G>C	p.Trp16Cys	-	RHCECE or RHCE04	RH:2 or C RH:3 or E RH:22 or CE	rs586178
	Intron 1	c.149-20A>G	-				rs184592905
		c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Exon 5	c.676G>C	p.Ala226Pro				rs609320
2	5’ UTR	–144C>S	-	RHD exon 7 (presumably RHD exons 7∼9)	No information	No information	rs201048836
	Exon 1	c.48G>C	p.Trp16Cys				rs586178
	Intron 1	c.149-20A>G	-				rs184592905
		c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Exon 7	c.941T>G c.968A>C c.974T>G c.979G>A c.985C>G c.986A>G c.989C>A c.992T>A c.1025C>T c.1048C>G c.1053T>C c.1057T>G c.1059G>A c.1060A>G c.1061A>C	NA				NA
	Intron 7	c.1073＋152A>C c.1073＋216A>G c.1073＋250C>T	NA				NA
3	5’ UTR	–144C>S	-	-	RHCE02 or RHCECe	RH:2 or C RH:5 or e RH:7 or Ce	rs201048836
	Exon 1	c.48G>C	p.Trp16Cys				rs586178
	Intron 1	c.149-20A>G	-				rs184592905
		c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Intron 4	c.634＋179T>A	-				rs151230984
4	5’ UTR	–144C>S	-	RHD exon 5 RHD exon 7 (presumablyRHD exons 3∼8)	RHCE02N.07 RHCECeN.07	RH:–2,–5,–17 (C–e–) (null phenotype)	rs201048836
	Exon 1	c.48G>C	p.Trp16Cys				rs586178
	Intron 1	c.149-20A>G	-				rs184592905
		c.150C>Y c.178C>M c.201A>R c.203A>R c.307C>Y	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Exon 5	c.667G>T c.697C>G c.712A>G c.733C>G c.744T>C c.787A>G c.800T>A	NA				NA
	Exon 7	c.941T>G c.968A>C c.974T>G c.979G>A c.985C>G c.986A>G c.989C>A c.992T>A c.1025C>T c.1048C>G c.1053T>C c.1057T>G c.1059G>A c.1060A>G c.1061A>C
	Intron 7	c.1073＋152A>C c.1073＋216A>G c.1073＋250C>T
5	5’ UTR	c.-378G>A c.-369C>T c.-296G>A c.-122C>A	-	-	RHCE03.18 RHCEcE.18 ＋ RHCE04 RHCECE	RH:4 or c RH:3 or E RH:27 or cE ＋ RH:2 or C RH:3 or E RH:22 or CE	rs2281179 rs2072933 rs2072932 rs2072931
	Exon 1	c.48G>C	p.Trp16Cys				rs586178
	Intron 1	c.149-20A>R	-				rs28631635
		c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Intron 3	c.486＋157C>A	-				rs28631635
	Exon 5	c.676G>C	p.Ala226Pro				rs609320
6	Exon 1	c.48G>C	p.Trp16Cys	RHD exon 5 RHD exon 7 (presumably RHD exons 3∼8)	RHCE02N.07 RHCECeN.07	RH:–2,–5,–17 (C–e–) (null phenotype)	rs586178
	Intron 1	c.149-20A>G	-				rs184592905
		c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Exon 5	c.667G>T c.697C>G c.712A>G c.733C>G c.744T>C c.787A>G c.800T>A	NA				NA
	Exon 7	c.941T>G c.968A>C c.974T>G c.979G>A c.985C>G c.986A>G c.989C>A c.992T>A c.1025C>T c.1048C>G c.1053T>C c.1057T>G c.1059G>A c.1060A>G c.1061A>C	NA				NA
	Intron 7	c.1073＋152A>C c.1073＋216A>G c.1073＋250C>T
7	Exon 1	c.48G>C	p.Trp16Cys	-	RHCE02 or RHCECe	RH:2 or C RH:5 or e RH:7 or Ce	rs586178
	Intron 1	c.149-20A>G	-				rs184592905
	Exon 2	c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Intron 4	c.634＋179T>A	-				rs151230984
8	Exon 1	c.48G>C	p.Trp16Cys	RHD exon 5 RHD exon 7	RHCE02N.07 RHCECeN.07	RH:–2,–5,–17 (C–e–) (null phenotype)	rs586178
	Intron 1	c.149-20A>G	-				rs184592905
	Exon 2	c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T	p.Val50= p.Leu60Ile p.Ser67= p.Asn68Ser p.Pro103Ser				rs200955066 rs181860403 rs1053343 rs1053344 rs676785
	Exon 5	c.667G>T c.697C>G c.712A>G c.733C>G c.744T>C c.787A>G c.800T>A	NA				NA
	Exon 7	c.941T>G c.968A>C c.974T>G c.979G>A c.985C>G c.986A>G c.989C>A c.992T>A c.1025C>T c.1048C>G c.1053T>C c.1057T>G c.1059G>A c.1060A>G c.1061A>C
	Intron 7	c.1073＋152A>C c.1073＋216A>G c.1073＋250C>T

Abbreviations: rs number, reference SNP cluster ID number; ISBT, International Society of Blood Transfusion.

Korean J Blood Transfus 2023;34:92-107 https://doi.org/10.17945/kjbt.2023.34.2.92