aaigeeietala| : alta a2, 2000 Cis-ABY 74 vga BAY 1 a]: As} OF HEA] Hops cis-ABY 2h4 253, NSS OSs, aol, seo, aaa alhetaa Saha} Peels ear, G9] ahehaaal*, A}-Seh Sha 2} et 9] ge] heh a4 = Abstract = Unusual Phenotype Expression in a Cis-AB Trait: Cis-AB Child from a Group A Father and a Group O Mother Dong Hee Whang, M.D., Bo Moon Shin, M.D., Hong Sup Lee, M.D.*, ‘Mina Hur, M.D.**, Bok Yeun Han, M.T.**, Kyou Sup Han, M.D.** Departments of Clinical Pathology and Thoracic Surgery*, Inje University College of Medicine, Department of Clinical Pathology, Seoul National University College of Medicine™, Seoul, Korea Cis-AB (A2B:) is a rare genotype resulting from the inheritance of both A and B genes on one chromosome. Among possible genotypes of cis-AB, in individuals with O/cis AB and Av/cis-AB, the B antigen is usually weakly expressed. Study on a blood sample from a 13-year-old Korean girl showed a discrepancy between red blood cell and serum typing. The blood type was identified as AweakB on the red cell test, while weak anti-B was detected in the serum. Cis-AB (AsB:) was suspected, however, known blood types of her father and mother were A and O, respectively. In the repeated test, the propositus was typed as group A:B». Her mother was typed as normal group O. Her father was typed as group A: in cell typing, but in his serum, anti-B was very weakly detected. In the saliva test and adsorption and elution studies of the father, B substance was not detected. Finally, ABO genotyping was performed and ABO genotypes of the patient, mother and father were cisAB/O, O/O and cisAB/A., respectively. This was the first reported case of Av/cisAB with phenotype A:. ABO genotyping technique will resolve problems encountered in association with unusual phenotype expression of cis-AB trait. (Korean J Blood Transfusion 11(2) : 169~175, 2000) Key words: cis-AB, ABO genotyping aan HA 110-744 ASA) SRF AVS 28], Hedaya aye ‘TEL : 02)760-3519 FAX : 02)762-9411 E-mail : kshanmd@snu.ac.kr =169-aepeieiayy sata ae, Ae Cis-AB 8492 433] [E ABO Wo] aoe 25/3 HAGA Ha tUAos Basjo} UH}, 1965'2 Yamaguchi $4] S}8] ASO. fe AM] BUSA BIA ABS (trans)3} TF Wel] al cis-ABY olen Bas acpe, asp AAAS 19681 SOB BU Yoo Holz Ae FS8] SE Aol wal Hs} URI S AE cis-ABY°] 8]04j 24 Was Woe Ba} alepe, Cis-AB BAY] AS VHA Bats} 7p A EMS ES] Oo] FolA sou 19904 Yamamoto «| 28] ABO Wo]#4 #2lz}9] F 714} 9] Bre] 5 cis-AB BY BO} Aap Ral] HE SP7b ol Fol) 7H ZAT glo] = BAA ASA BAW TOS ato] Pee aha ep Cis-AB BAB] 7 3717] HAYS AZBs, AiBs, A2B7} 3.20 242} Ofcis-AB, Aulc AB, Bicis-AB2] a7 Bo] asec}. oS F A3Bs (O/cis-AB)4} AiBs (Av/cis-AB)2] 44= B Blo] Bt BYAcHS Feh21 Se, HAS Ao] AwAolc}. AzHS-e 3S Bao] FAS] 7) SS AYLS BAA SAWS Ball Aikis-ABY 2% Ato] 7-seH Seals Bast A710] Bash wholcp. Sal 8 Bh BALE 134] Hohe AGES S Aho] Malas} RAY YA $42] 349] eI ela}o] ABO Baya BPE AAN VEG APY BAS AIS Balad) A BUILAS BAT. APY BAAS of 28h B-Bol] Oe ERAlowS-S UY ov} (mixed field agglutination), 238 ZA} oF Sl EBB ASE ACh. ele] BF ABsy LE cis AB BAY] Bela] AIs|QYouy, Bo} Fes) Gea UAVS ABW OYLS pe PORAAS we} oA] Hv g Rohs] Yaya g ARE Al@absach 1, BUSA Soke BEY WAPs aA Gah, Apel A USS BY, Y-Ai (Biotest AG, Land- steinerstr, Germany) $7] & Wo]2] $32.7} BB SMA}, Bao HE LHP loHG-S Bo] 2D, BAS BAG BS AST 149] Het Sa] & Ho] ABsYo] Sc}. Hops] oz) APY A AVE A Bl -Arol] ESAS Bo] D YB +H Giotest AG, Landsteinerstr, Germany)el}{= Aa SAS Bola] SetoM] BYS BAY BY AST ah et SAS Bo} ABYOR YZpe) Ach. Hols] HPS APY WAV WA} |B 3A OFYo|Ae}Table 1). 0248 BAAZHS A B3} O77] ABS PII ZIZ} Ar, OF Alo] oy 41 9}9]7} cis-ABYS Ho} 7p Eo Z AYo] S]7] BS BeHRch. Seobs] oba|7} BAS 7} AID EA] oS Bel e}7] Hal 4] Sel Hp AeA BAS aa AS A Bapsch. 2. SAo#elAla ho} of) 9} 4175} g-BE MSA} 7] ga) 3) ARS FoI BSAA] AB, Ba, 08 4 Sts Use V7 WSs Hela. az BB U3.4]21 Gof oh7|o] FATS Bape] woe Hellz ¥ ale]ys AW, BY, OF 4a FS} 82, 370 albumin, GZLRU Cao we SAAT. 2 As BE ASP] SAWS wo] Al Bo Bor offz|2] ABPo] Bee] WSs BLS +H UNCH Table 2) 3, EUSAAAIAL Bo}5] o}s219) eho $ 2560742) SB 0] SEA, GB, BH] USA $2} AB, Be, -170-Cis ABQ 7}alo1A) vg tHe) SAA 1 ol: AMA} O® FLA Hohe cis-AB 2 ABFA USA SOF RAB AIF a we Ro] Sal s}o} Efe Uo] AW SHY Ba Wo] NSS SF NCH(Table 3). 4, ABO BUS) FAIZAL Bo} 7S] Hse] ABO FAAS BSAA ABA. ABO F-Az}3 4] Fukumori 25 ee SURLAANS Baa sAG HEARS 0] BetSLCH, BAPAa} ABO $+ AABe Bo}2] WPHs O/O, Boke cis-AB/O, of} oft] 2) + cis-AB/Ar 2. YFS}aAC}Table 4), oV32] BIZ Bole Olis-ABY, Bos] Yoh Table 1. The results of ABO blood grouping E 0/0, Ho}2] ofA] cis-AB/Al JOE HA FAO] ABSY|ROM So} obvja}is Ais} Bh] cis-AB7} JOBS eb izh= BYo] PSs] = A 6] Beale] BY] We] BAS|2] Sol AYIA BPAY FFAG, HAS IAA SlBE FAFA] BISA Sc LAAT ABO 4-217} SAMAbS Sal} Ae] 7Aseha) ald. z@ Cis-AB AYBS ASAWE WIA ABB A Cell grouping ‘Serum grouping aui-A anti-A anti-B i Auto Acell Bell Ocell Mother 0. 0 0 3+ 4 0 a 3 0 Father 4+ 4 0 0 34 0 0 + 0 Child ae 0 2s 34 3t 0 0 + 0 mf mixed field agautinaton. Table 2. Adsorption and elution test of the father Ocell Ocell Acell Bell Gereening cll 1) (serening cll I) ‘Supematant (wash) RT, saline 0 0 0 ° 370, albumin, 0 0 0 0 ANG 0 0 0 0 Eluate (heat) RT, saline 0 0 0 0 370, albumin 0 0 0 0 AHG) 0 0 0 o RT: room temperature, AHG: antchuman globulin, Table 3. Saliva test (hemagglutination inhibition test) of the father Reciprocal of saliva dilution 2 4 8 16 32 a 128 256 NC A 0 0 0 0 0 0 0 0 0 B 4 4 4 4 ae 4 4 4 0 ° 0 0 0 0 0 0 0 0 0 [A Salivat anticA—seA call, B: Salivat anti-B cell, O: Salivat anti-H—40 cell, NC: Negative control -17-wee eeiayy = tLe ae, Table 4, The result of ABO genotyping of the family sequence of nucleotide Nucleotide No. Genotype 261 467 526 703 796 803 Mother allele L Det* cay cA) GIA) ca) Ga) o allele 2 Del ca) CIA) GIA) ca) GA) o Father allele 1 G TA) CIA) GIA) cay CB) cis-AB allele 2 G ca) CIA) GIA) cay GIA) A Child allele 1 G TA) CIA) GIA) cay CB) cis-AB alllele 2 Del ca) CIA) GA) ca) GA) o Control A Pro)" G @ ic G G G A(Leu)’ G T c G @ G B G ic G A A c o Del ¢ CG G @ G cis AB G T c G c c Del deletion, (A):Blood group A specific cleotide, (B)':Blood group B specific nucleotide, A(Proy":Blood group A Which has proline st amino acd postion 156, A(Leu) Blood group A which has leucine at aminoacid poston 156, HAAS BHAA 279] CS Aaa eS ASHE HABA ol cso} Bye] Ayal 271.2) PAA So] RAMS MALE AB SOlA one 2 BAIA Soy BzHpa eae Zo Ha] AS7IE ASA AP} NO} ACH. Bala] Be) whol] Saha cis-AB BABS ah}s] $Us EWVUS Yehzj=E Bony, te U3} IA] HAS] SAE Nola Hse] et BES UEC. Olcis-AB f-21A-B9] ZF] E BAS F-Arol AR BUSS Bo}ehy} BBO] ob oe WSS Mo] ABs, Ao Y A BBAD MSS Ho] st YBa of eh et SE Mole ABs, FAME Ao TE USE Ho] BA GB of 24} Be USS Wo] Awe] 3 77) EAB] Se] Yep. dz] AB Yad B + cis ABSA Sele eye ASAE Wo EB De onl B APA AA Arcis-ABo] BYdo] A HAY) Se BPE Us wy Gt. EA GEM] SEMA AT Us B B41 HC} cis-AB9| Bago} He YS] eho] © 2 Sa] ASS GZS YB B YAS ASH) FMS SIE VA F salou, T Ef cis-ABS AI Y= So} (Olcis-AB)I AE B Blo] 4S Ss ASyYous et HVE halal + sh& 2a ech. aa) GS} Ua PAP WE cis-AB UAV wigaed Fee REET AS EB, AG HAA} BY HAA opt AA 9) Aho] S Bole 472] BIAS F 526e1, 70381, TORS A FAABS] S714 AH} Var, BOBS BRAGS AAS ZO] 67H B7E BD FAY] Wo] YELLE cytosine—thymine ago] $liz Bo. eel sep, weg awels| cis ABQ] HAAY EAA] A, BBA 7S AOlS Bolt 93081 A717} ABT} WE guanine Ql ROE w]e} wo} o]z} a cis-ABYL AB] 80341 J 712] SA wee] Sa] Yys|e Aes we AEH. whey 0] S 57 7) AGT, 526, 703, 796, 803)2} G7] OB] Ao] Yojpe 261 AAAS BAS, A,B, O B43} cis-AB @ HYo] IA PUM $ seh. B Sale 261, 467, 526, 703, 796, 803812] 6719] A7INAS -172-Cis ABS 711A W2-2AIel BAY 1 |: AVS} OF LOY Hohe cis ABY AY ARMS-PCR3} PCR-RFLP "}Y.2.2 ZA}s}o] Ad AT Bowes Olcis-AB $41 Aby, ob APS Aucis-AB $4789 AOz Yepstc. B18 o] ol FF] ©] ]9] cS 42] A714 Sol} Aho] 7 SEA] 7] Hato] BEF ©] Bo}-3} So}s] of Al} ABO $2l4}9] 42 S71 Ge aS F ABBAS Aa] HE Bo] Pas Aow y aad. & Sal ABO E2H-A7S AAbS a7] a WAS AS AG BAAS So} 2| oft) 7} cis- ABYS ACHE SAE BAM] SoA. = BABA Whale BB cay B22] oO} A] AUPE AS WSS Volz] Seton, FA ales B Yale] Salt SasA) Vat 2, HASTA) BIAS BY SAS Ae a 257 $n AY LAY SAM ASyAc. ap 4 BAAR AAS ay] Arle Lele] & ot SA] Sub of] o] 7144, 2] 7} Loh] 7h ord Kee BAS FE YAH. Ba] ABO HAA BALA Sobe] ob] 2] 7} cis-ABYS FAL ALS YEpTO ZH Bohs] FAlgjo] A 3 7Feeta] 1 2lolch. whe}A] ABO 4-734 Abe BAe] Wee) BEB of] at E Sad WEIS BE AF, ABO Ye] 8 Sol] H-S8H AGA F US A 22 aad. BAMA Bae B SAAG Arlcis-ABY |] HAV] Bee] HA7] BE WHE wT apy gen) ols Carel cis-AB/O-F AAP Be T Aucis-ABY°] JEH7] PEAS UALS AAA. S Aa] z ABs] BAYS 7A SA trans AYBsS 714 AAAS F3] SBP} ABs HOGS 7/41 AHS OAHE cis-AB 2 4} S7ADYS Ale YA. 7] et 99} cp = cis-ABS] BAYE, F ABs} ABE F cis- AB HES] TE HAA Melo] a BH EE] B7] AL 7HAZAt Mo] as BABA) wee Welle VS Ale BAe. F BS SAAIAAZ, HAABLZE Aris-ABO] WAS BY] Aa FAY] Se SHE as s AS77 FaAS Ale. 4721 ABO YAY BAF BAM ABBA Bayh FH Hold A visa] AY BF Bele] EG] BAH AFA FAAY AAV} Ho] DOES Sys] BY] EASA] VE Arcis-ABZo] slg} & AAS BAPIVAG HAAS AAS a] & ES PAVE NAS Ale BAA. epy BESO We cis-ABY 7} Ailcis-ABY 2} EAY S BIA] FAY] SE BF7 NEA P52 wSal] He ZA} Ls ow wo] >} ado] days Bea Wow welep 2 Sale AEWYS 714) Akis-AB] AMA SARA, B SAIWIAA IEABS wo] = cis-AB G4 Bo} 7]E} ABO Wo] BA ALA] Ae BAS aashe ol BzHraeIel ABO HAAR WAV SAA AS Bos BIC 2 Cis-AB (ABs) @YYS SE B4Yoz sg” AA Ho) AQ HAAS BY AAV} Me] HAL Sie G3 GEPAC Cis-AB] 7st AAPA $ Okcis-ABS} Ailcis-AB $21}2 el] BYE ASAT Fa Sz] HUSHE Ae] Azo] Uh. BSAA AAS FAAP] Aulcis-ABo] WY BAe] EAN2) Sot Aselet EAA AHAY Lolo] daly Barapa} ee}. 134] 2] BHA Rolo] ABO WAM AAT UPBAAE HP ARY BAA BAA] SAS vege. Cis-AB (AxBs) B80] 2}415] AOU} Sofs| Bol Bea AAYS Az} As} OY] Arh. A) AAR Ast Bohs FA] ABsYo] gon] Wo} BABS Oe] Ach. Hops} opal] Bs BF BAAS BIA ABS ENO ByBAt -17B-eleeetsla) aia ae oA BBA} Ba AZ wey oh eb] AS AAcH. Ho}s] oh z}o]A] BYo] glez] QW] Nate] AS AA Al BAtS} BAHAY SAY HAO BIAS BSAA] Sskch. vyapypos Bohs] 7}Fel| cal] ABO 4lzb8 AALS 2] RLM] So}s} So}2] o}m]x], o}H4]2] 2] ABO BAPAL Fz cis-AB/O, 0/0, cis-AB/A12.2. YF SAC. o] Sale Al HAWS GE Aucis-AB Bo] Al Mah Y31]D} cis-ABA]A o| FEAYS UEhhe B+ ABO #828 AAV 4-88) Ab Sa FQSeaez aad. 1% LEH 1. Seyfried H, Walewska I, Werblinska I. ‘Unusual inheritance of ABO blood group in a family with weak B antignes. Vox Sang 1964;9:268-77 2. Yamaguchi H, Okubo Y, Hazama F. An A2Bs phenotype blood showing atypical mode of inheritance. Proc Jpn Acad 1965; 41:316-20 3. Madison G. A Korean family showing the inheritance of A and B on the same chromosome. 1] 4° 2}3] 417] 1968;3:27- 31 4. 298, Baal, 2AY, ES, BSS. Cis ABY 27}5 a]. oh BY 2] 3] 2] 1982; 16:90-4 5. 2WE, U4a, NEL. Waa] Bas cis AB7}H 114]. He B 483] 47] 1985; 203317-23, 6 Baa, TIA, AYs, Yoh z}. ABO dis- crepancy?) @1¢1 24}o] 23 7] 4. Tees 343/97) 1985;20:245.9 7. ABA, A 1S, GH, BEA, a7) ¥. Cis-ABY 7+H 2a). oH BE a] gs] 2] -174— 10. LL. 12, 13. 14. 15. 1986;21:323-7 Bae, VAM, BIH, Ssh, 28. is: AB 47/54] Wa. oa s}SA) 267-72 BS, Az, Aas, ALA, ae, ABO discrepancy 820) tg ele. B32] I] 1991511:493-9 Yamamoto F, Marken J, Tsuji T, White T, Clausen H, Hakomori S. Cloning and characterization of DNA complementary to human UDP-GallNac:Fue al,2 Galal,3- GalNAc transferase (histo-blood group A transferase) mRNA. J Biol Chem 1990;265: 1146-51 Yamamoto F, Hakomori S. Sugar-nucleotide donor specificity of histo-blood group A and B transferase is based on amino acid substitutions. 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Arlington, Virginia: American Association of Blood Banks, 1986:1-56 17, Badet J, Ropars C, Salmon C. a-N-acetyo-D galactosaminyl-and a-D-galactosyltrans- ferase activities in sera of cis AB blood -175- group individuals. J Immunogenet 1978;5: 221-31 18, Yamaguchi H. A review of cisAB blood. Jpn J Hum Genet 1973;18:1-9 19, Bennett M, Levene C, Greenwell P. An Israeli family with six cisAB members: serologic and enzymatic studies. Transfusion 1998;38:441-8