2.
20例样本ABO血型PCR直接测序结果
Results of direct PCR sequencing ofABO blood group in the 20 cases
| Samples | Allele gene | Base variation | Amino acid substitution | Phenotype |
| c.467C > T; c.1061delC | p.Pro156Leu; p.Pro354Argfs*23 | |||
| 1 | ABO*A2.01/ABO*B.01 | c.297A > G; c.526C > G; c.657C > T; | p.Arg176Gly; p.Gly235Ser; | A2/B |
| c.703G > A; c.796C > A; c.803G > C; c.930G > A | p丄eu266Met; p.Gly268Ala | |||
| 2 | ABO*A2.01/BO*O01.01 | c.261delG | p.Thr88Profs*31 | A2/O |
| c.297A > G; c.467C > T, c.526C > G; c.657C > T; | p.Val36Phe; p.Pro156Leu | |||
| 3 | ABO*A1.02/ABO*B.01 | c.703G > A; c.796C > A; c.803G > C; c.930G > A; | p.Arg63His; p.Pro74Ser; | Aweak/B |
| 1054 delC | p.Thr88Profs*3 | |||
| c.247G > T; c.297A > G; c.467C > T | p.Asp83Tyr; p.Arg176Gly; | |||
| 4 | ABO*A1.02/ABO*B3.04 | c.526C > G; c.657C > T; c.703G > A; c.796C > A; | p.Pro156Leu | A/B3 |
| c.803G > C; c.930G > A | p.Gly235Ser; p.Leu266Met; p.Gly268Ala | |||
| ABO*O.01.01/BO*B3.04 | c.261delG | p.Thr88Profs*31 | ||
| 5 | c.247G > T; c.297A > G; c.526C > G; c.657C > T; | p.Asp83Tyr; p.Arg176Gly; | B3/O | |
| c.703G > A; c.796C > A; c.803G > C; c.930G > A | p.Gly235Ser; p.Leu266Met; p.Gly268Ala | |||
| 6 | ABO*O. 01.02/BO*B3.04 | c.106G > T; c.188G > A; c.189C > T; c.220C > T; c.247G > T; c.261delG; c.297A > G; |
p.Val36Phe; p.Arg63His; p.Pro74Ser; p.Asp83Tyr | B3/O |
| c.646T > A; c.681G > A; c.771C > T; c.829G > A | p.Thr88Profs*31 | |||
| 7 | ABO*A1.02/ABO*B3.02 | c.467C > T c.646T > A | p.Pro156Leu p.Phe216Ile | A/B3 |
| c.106G > T; c.188G > A; c.189C > T; | p.Val36Phe; p.Arg63His; | |||
| 8 | ABO*B3.02/BO*O.01.02 | c.220C > T; c.247G > T; c.261delG; c.297A > G; | p.Pro74Ser; p.Asp83Tyr | B3/O |
| c.646T > A; c.681G > A; c.771C > T; c.829G > A | p.Thr88Profs*31; p.Phe216Ile | |||
| 9 | ABO*BW.12/BO*O.01.01 | c.278C > T; c.261delG; | p.Pro93Leu; p.Thr88Profs*31 | Bw/O |
| 10 | ABO*BW.12/BO*O.01.01 | c.278C > T; c.261delG | p.Pro93Leu; p.Thr88Profs*31 | Bw/O |
| 11 | ABO*BW.12/BO*O.01.01 | c.278C > T; c.261delG | p.Pro93Leu; p.Thr88Profs*31 | Bw/O |
| 12 | ABO*BW.12/BO*O.01.01 | c.278C > T; c.261delG | p.Pro93Leu; p.Thr88Profs*31 | BwO |
| 13 | ABO*A1.02/ABO*B.01 | c.297A > G; c.467C > T c.526C > G; c.657C > T; c.703G > A; c.796C > A; c.803G > C; c.930G > A; (-35-18)GGCGGAAGGCGGAGGCCGdel |
p.Pro156Leu p.Arg176Gly; p.Gly235Ser; p.Leu266Met; p.Gly268Ala |
A/Bweak |
| 14 | ABO*A1.02/ABO*B.01 | c.297A > G; c.467C > T c.526C > G; c.657C > T; c.703G > A; c.796C > A; c.803G > C; c.930G > A; (-35-18) GGCGGAAGGCGGAGGCCG/del |
p.Pro156Leu p.Arg176Gly; p.Gly235Ser; p.Leu266Met; p.Gly268Ala |
A/Bweak |
| 15 | ABO*O.01.02/BO*B.01 | c.106G > T; c.188G > A; c.189C > T; c.220C > T; c.261delG; c.297A > G; c.526C > G; c.657C > T; c.646T > A; c.681G > A; c.703G > A; c.796C > A; c.771C > T; c.829G > A; c.803G > C; c.930G > A (-35-18)GGCGGAAGGCGGAGGCCG/del |
p.Val36Phe; p.Arg63His; p.Pro74Ser; p.Thr88Profs*31 p.Arg176Gly; p.Gly235Ser; p.Leu266Met; p.Gly268Ala |
Bweak/O |
| 16 | ABO*A1.02/ABO*B.01 | c.297A > G; c.467C > T; c.526C > G; c.657C > T; c.703G > A; c.796C > A; c.803G > C; c.930G > A; -119 C > T |
p.Arg176Gly; p.Gly235Ser; p.Leu266Met; p.Gly268Ala |
A/Bweak |
| c.467C > T; c.297A > G; c.526C > G; c.657C > T; | p.Pro156Leu; | |||
| 17 | ABO*A1.02/ABO*B.01 | c.703G > A; c.796C > A; c.803G > C; c.930G > A | p.Arg176Gly; p.Gly235Ser; | A/Bweak |
| Intron4 1678T > C | p.Leu266Met; p.Gly268Ala | |||
| c.467C > T; c.297A > G; c.526C > G; c.657C > T; | p.Pro156Leu; | |||
| 18 | ABO*A1.02/ABO*B.01 | c.703G > A; c.796C > A; c.803G > C; c.930G > A | p.Arg176Gly; p.Gly235Ser; | A/Bweak |
| Intron4 1678T > C | p.Leu266Met; p.Gly268Ala | |||
| 19 | ABO*B.01/ABO*O.01.01 | c.261delG; c.297A > G; c.526C > G; c.657C > T; | p.Thr88Profs*31; p.Arg176Gly; | Bweak/O |
| c.703G > A; c.796C > A; c.803G > C; c.930G > A | p.Gly235Ser; p.Leu266Met; p.Gly268Ala | |||
| 20 | ABO*B.01/ABO*O.01.01 | c.261delG; c.297A > G; c.526C > G; c.657C > T; | p.Thr88Profs*31; p.Arg176Gly; | Bweak/O |
| c.703G > A; c.796C > A; c.803G > C; c.930G > A | p.Gly235Ser; p.Leu266Met; p.Gly268Ala |