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（从0.048 5上升至0.061 5）。 34.2）上，长度 19.5 kb，cDNA 长度为 1 062 bp，编码
353 个氨基酸，含 7 个外显子，其中第 6、7 外显子包
2 讨 论
含 77%的基因编码序列，也包括了 91%的糖基转移
ABO 血型基因位于人类第 9 号染色体（9q34.1⁃ 酶催化区域序列 ［1，6］ ，目前绝大多数研究报道和发现

A Homo_sapiens/1⁃42 1 MAE V LRT L A G K P K C HA L R P M I L F L - I M L V L VL F GYGV L S P R S - - - V
Pan_troglodytes/1⁃42 1 MAE V LRT L T G K P K C Y A L L P M I L F L - I M L V L VL F GYGV L S P R S - - - V
Rattus_norvegicus/1⁃39 1 MKD L -R- - F G R L K C Y S LH L G I L P L - T V L V L VF F C F V C L S L R S - - - P
Sis_scrofa/1⁃35 1 MDP - -RDFW G K S A K LWL C P I L L V - A C - - LF GF Y S N - V F - - - SH - - L
Mus_musculus/1⁃37 1 MNL - - -- - R G R P K C N F LH L G I L P F - A V F V L VF F GY L F L S F R S - - - T
Canis_lupus_/1⁃42 1 MAGMRRAP A G K T K C C S LH T V T F L L - V T L F L VL S G T G F R I L GN- - - Y
Bos_taurus/1⁃37 1 MDP - -RDFW G N R T K S C L C L I L L A - V L - - LF GF Y S N - V F - - - SH L D S

Conservation * 3 2 - - 3 - - 3 * 6 2 5 6 2 5 * 3 5 7 7 8 5 6 - 6 7 - - * 8 8 5 7 6 - 7 4 - - - 9 - - - 3

B SRp40 SC35 SRp55 SF2/ASF（IgM⁃BRCA1） SF2/ASF
Wild⁃type Mutant
6 6
5 5
4 4
Score 3 Score 3

2 2
1 1

DNA sequence DNA sequence
C D c.28G>A（p.Gly10Arg）

Wild⁃type Mutant DeepTMHMM⁃most likely topolgy | Type：alpha TM
Outside
Membrane
Inside
0 50 100 150 200 250 300 350
Sequence
C E
1.0
0.8
Probability 0.6

0.4
Membrane
0.2 Inside
Outside
0
0 50 100 150 200 250 300 350
Sequence
A：Analysis of evolutionary conservation across multiple species. Sequence alignment shows that the glycine at position 10（p.Gly10）is completely
conserved in the listed mammalian species（indicated by the red box）. B：Prediction of splicing regulatory elements by ESEfinder. The mutation leads to
the creation of a new binding site for the SC35 protein，with its score exceeding the default threshold（dashed line）. C：Local RNA secondary structure
predicted by RNAfold. D：Schematic of the most likely topology. This panel illustrates the overall topology model predicted for the RhD protein se⁃
quence as an alpha⁃helical transmembrane protein（alpha TM）. The black arrow precisely indicates that the p.Gly10Arg mutation site is located within
the N⁃terminal cytoplasmic tail. E：Posterior probabilities for membrane topology. This panel displays the predicted probability for each amino acid posi⁃
tion in the sequence.
图2 c.28G>A突变生物信息学分析
Figure 2 Bioinformatics analysis of the c.28G>A mutation