Investigation and analysis of ABO, Rh, Kidd, Kell blood group characteristics in patients with coronary heart disease
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摘要: 目的 探讨ABO、Rh、Kidd、Kell血型系统抗原在冠心病患者中的分布特点。方法 收集新疆维吾尔自治区人民医院就诊符合纳入排除标准的冠心病患者样本2 000例，进行ABO、Rh、Kidd、Kell血型主要抗原鉴定，并对RhD血型阴性表型的基因外显子测序，对不同民族冠心病患者血型分布情况进行统计分析。结果 冠心病患者ABO血型中O型占比为28.87%；维吾尔族为A>B>O>AB，哈萨克族趋势同维吾尔族。检出RhD阴性样本59例(3.32%)，频率依次为维吾尔族>哈萨克族>柯尔克孜族>回族>其他民族>蒙古族；检测出13种Rh分型，频率最高的是柯尔克孜族的CcDEe，为38.81%，各民族表型分布符合Hardy-Weinberg平衡(P>0.05)；而Rh血型基因型分布，e基因频率仅次于D基因，而基因组合体频率中CDe基因型最常见；D阴性样本基因测序发现了新的突变位点5号外显子g.712G>A，另发现1例RhD 1227A杂合型Del样本。Jka、Jkb抗原分布哈萨克族最高达83.33%、78.57%，对Jka/Jkb表型统计发现哈萨克族Jk(a+b+)频率达61.90%，未检出Jk(a-b-)表型。K抗原检测得到阳性样本30例，占比1.69%，柯尔克孜族阳性率最高，为2.24%。结论 ABO、Rh、Kidd、Kell血型系统抗原在不同民族冠心病患者中分布有各自的特点，为冠心病患者输血前检测、临床输血治疗及后期疾病相关性研究提供了依据。Abstract: Objective To investigate the distribution characteristics of ABO, Rh, Kidd and Kell blood group system antigens in patients with coronary heart disease(CHD).Methods Samples of 2 000 patients with CHD who met the inclusion and exclusion criteria were collected from the People's Hospital of Xinjiang Uygur Autonomous Region. Major antigens of ABO, Rh, Kidd and Kell blood groups were identified, gene exons of RhD blood group negative phenotype were sequenced, and blood group distribution of CHD patients of different ethnic groups was statistically analyzed.Results The proportion of ABO type O in CHD patients was 28.87%. Uyghur was A>B>O>AB, and Kazakh tended to be the same as Uyghur. RhD negative samples were detected in 59 cases(3.32%), and the frequency was Uyghur>Kazak>Kirgiz>Hui>Other nationalities>Mongolian. Thirteen Rh types were detected, the CcDEe of Kirgiz was 38.81%, and the phenotypic distribution of all ethnic groups was in line with Hardy-Weinberg equilibrium(P>0.05). In the distribution of Rh genotype, the frequency of e gene was second only to D gene, while CDe genotype was the most common in the frequency of gene combinations. The gene sequencing of D-negative samples found a new mutation site, exon 5 g.712G>A, and a heterozygous Del sample of RhD 1227A. The distribution of Jka and Jkb antigens in Kazakh population was up to 83.33% and 78.57%, and the frequency of Jk(a+b+) in Kazakh population was found to be 61.90%, and no Jk(a-b-) phenotype was detected. The positive K antigen was detected in 30 cases, accounting for 1.69%, the highest positive rate of Kirgiz was 2.24%.Conclusion The distribution of ABO, Rh, Kidd and Kell blood group system antigens in patients with CHD of different nationalities has its own characteristics, which provides a basis for the detection of CHD before transfusion, clinical transfusion treatment and later disease correlation research.
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Key words:
- coronary heart disease /
- ABO blood type /
- Rh blood type /
- Kidd blood type /
- Kell blood group
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表 1 入组样本基本信息
民族 例数/例 男/例 女/例 年龄/岁 维吾尔族 693 451 242 60±11 柯尔克孜族 134 92 42 59±10 蒙古族 258 161 97 65±13 哈萨克族 168 122 46 62±11 回族 230 148 82 62±12 其他民族 294 209 85 64±12 合计 1 777 1 183 594 62±12 注：其他民族包括汉族、达斡尔族、俄罗斯族、满族、塔吉克族、塔塔尔族、土家族、乌孜别克族、锡伯族、壮族。 
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表 2 入组冠心病患者ABO、RH、JK、KEL血型系统主要抗原表型分布
例(%) 血型系统标志 表型 维吾尔族 柯尔克孜族 蒙古族 哈萨克族 回族 其他民族 合计 ABO A 229(32.99) 38(28.10) 70(27.27) 56(33.30) 59(25.48) 84(28.57) 535(30.11) B 211(30.43) 38(28.57) 80(30.91) 53(31.70) 70(30.57) 84(28.57) 537(30.22) O 171(24.64) 44(32.86) 75(29.09) 40(23.88) 84(36.31) 100(34.01) 513(28.87) AB 83(11.94) 14(10.48) 33(12.73) 19(11.13) 18(7.64) 26(8.84) 192(10.80) RH RhD+ 657(94.81) 129(96.27) 256(99.22) 161(95.83) 225(97.83) 290(98.64) 1 718(96.68) RhD- 36(5.19) 5(3.73) 2(0.78) 7(4.17) 5(2.17) 4(1.36) 59(3.32) JK Jka+ 554(79.94) 109(81.34) 209(81.01) 140(83.33) 176(76.52) 227(77.21) 1 415(79.63) Jka- 139(20.06) 25(18.66) 49(18.99) 28(16.67) 54(23.48) 67(22.79) 362(20.37) Jkb+ 513(74.03) 96(71.64) 182(70.54) 132(78.57) 171(74.35) 220(74.83) 1 314(73.94) Jkb- 180(25.97) 38(28.36) 76(29.46) 36(21.43) 59(25.65) 74(25.17) 463(26.06) Jk(a+b+) 374(53.97) 71(52.98) 133(51.55) 104(61.90) 117(50.87) 153(52.04) 952(53.57) Jk(a+b-) 180(25.97) 38(28.36) 76(29.46) 36(21.43) 59(25.65) 74(25.17) 463(26.06) Jk(a-b+) 139(20.06) 25(18.66) 49(18.99) 28(16.67) 54(23.48) 67(22.79) 362(20.37) Jk(a-b-) 0 0 0 0 0 0 0 KEL K+ 14(2.02) 3(2.24) 4(1.55) 3(1.79) 2(0.87) 4(1.36) 30(1.69) K- 679(97.98) 131(97.76) 254(98.45) 165(98.21) 228(99.13) 290(98.64) 1 747(98.31) 合计 693 134 258 168 230 294 1 777
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表 3 入组患者Rh血型表型分布情况
例(%) 表型 所有民族(n=1 777) 维吾尔族(n=693) 柯尔克孜族(n=134) 蒙古族(n=258) 哈萨克族(n=168) 回族(n=230) CCDEe 观察值 9(0.51) 1(0.14) 1(0.74) 2(0.77) 1(0.59) 0 期望值 9.06(0.51) 0.97(0.14) 1.01(0.74) 2.01(0.77) 1.01(0.59) 0 CCDee 观察值 562(31.62) 178(25.68) 43(32.09) 93(36.05) 44(26.19) 96(41.74) 期望值 562.07(31.62) 178.03(25.69) 43(32.09) 93.01(36.05) 44(26.19) 96(41.74) CcDEE 观察值 9(0.51) 3(0.43) 1(0.75) 4(1.55) 0 0 期望值 9.06(0.51) 2.98(0.43) 1.01(0.75) 4(1.55) 0 0 CcDEe 观察值 547(30.78) 185(26.70) 52(38.81) 92(35.66) 45(26.79) 69(30.00) 期望值 546.96(30.78) 185.03(26.69) 52.01(38.81) 92(35.66) 45.01(26.79) 69(30.00) CcDee 观察值 305(17.16) 157(22.66) 13(9.70) 33(12.78) 37(22.02) 31(13.48) 期望值 304.93(17.16) 157.03(22.66) 13(9.70) 33(12.78) 36.99(22.02) 31(13.48) ccDEE 观察值 108(6.08) 40(5.77) 7(5.21) 14(5.43) 11(6.55) 20(8.70) 期望值 108.04(6.08) 39.99(5.77) 6.99(5.21) 14.01(5.43) 11(6.55) 20.01(8.70) ccDEe 观察值 150(8.44) 77(11.11) 9(6.72) 17(6.59) 19(11.31) 8(3.48) 期望值 149.98(8.43) 76.99(11.11) 9(6.72) 17(6.59) 19(11.31) 8(3.48) ccDee 观察值 28(1.57) 16(2.31) 3(2.24) 1(0.39) 4(2.38) 1(0.43) 期望值 28.08(1.58) 16.01(2.31) 3(2.24) 1.01(0.39) 4(2.38) 0.99(0.43) CCdee 观察值 3(0.17) 0 1(0.75) 1(0.39) 0 0 期望值 3.02(0.17) 0 1.01(0.75) 1.01(0.39) 0 0 Ccdee 观察值 11(0.62) 6(0.87) 1(0.75) 0 0 2(0.87) 期望值 11.02(0.62) 6.03(0.87) 1.01(0.75) 0 0 2(0.87) ccdEE 观察值 1(0.06) 1(0.14) 0 0 0 0 期望值 1.07(0.06) 0.97(0.14) 0 0 0 0 ccdEe 观察值 4(0.23) 2(0.29) 0 1(0.39) 1(0.60) 0 期望值 4.09(0.23) 2.01(0.29) 0 1.01(0.39) 1.01(0.60) 0 ccdee 观察值 40(2.25) 27(3.90) 3(2.24) 0 6(3.57) 3(1.30) 期望值 39.98(2.25) 27.03(3.90) 3(2.24) 0 6(3.57) 2.99(1.30) H-W吻合度 χ2=0.370 7
P=0.542 6χ2=0.725 0
P=0.394 5χ2=1.209 3
P=0.271 5χ2=0.939 8
P=0.332 3χ2=0.633 0
P=0.426 3χ2=0.505 4
P=0.477 2注：其他民族294例样本未单独作统计。
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表 4 入组患者Rh血型基因型频率
基因型 所有民族(n=1 777) 维吾尔族(n=693) 柯尔克孜族(n=134) 蒙古族(n=258) 哈萨克族(n=168) 回族(n=230) C 0.568 5 0.511 6 0.586 0 0.622 2 0.512 0 0.639 2 c 0.431 6 0.488 4 0.414 1 0.377 8 0.488 1 0.360 9 E 0.266 3 0.254 6 0.291 1 0.286 9 0.262 0 0.254 4 e 0.733 7 0.745 4 0.708 9 0.713 1 0.738 0 0.745 6 D 0.817 5 0.772 0 0.806 6 0.911 7 0.795 8 0.852 7 d 0.182 5 0.228 0 0.193 4 0.088 3 0.204 2 0.147 3 CDE 0.004 5 0.001 4 0.006 5 0.006 4 0.005 8 0 CDe 0.539 6 0.485 9 0.529 3 0.541 2 0.511 8 0.612 8 CdE 0 0 0 0 0 0 Cde 0.024 4 0.020 9 0.043 7 0.062 4 0 0.033 3 cDE 0.238 4 0.232 5 0.228 5 0.170 6 0.240 7 0.295 0 cDe 0.036 7 0.020 1 0.029 0 0.109 4 0.037 3 0.047 8 cdE 0.009 4 0.010 6 0 0.062 4 0.015 3 0 cde 0.133 1 0.218 4 0.106 8 0 0.188 9 0.147 3 注：其他民族294例样本未单独作统计。
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表 5 50例RhD阴性样本基因型分布
基因型 外显子 例(%) D变异类型 711CC 5 50(100) / 712G>A 5 50(100) 未知新突变 845GG 6 50(100) / 1227GG 9 49(98) / 1227G>A 9 1(2) RhD 1227A杂合型
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