双胎输血综合征患儿A_2血型2例及其家系基因调查
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摘要
目的:分析2例ABO亚型A2及其家系成员的血型基因。方法:同时应用血清学实验、序列特异性引物聚合酶链反应(PCR-SSP)方法检测患者及其家系成员ABO基因,并进行测序。结果:2例患者血清学结果均为A亚型,PCR-SSP分型结果为A205/O02,其母亲血清学结果为O型,PCR-SSP分型结果为O0 1/O0 2,其父亲血清学结果为A亚型,PCR-SSP分型结果为A205/A205,所有家庭成员的PCR-SSP结果与测序结果相符。结论:ABO血型亚型具有遗传基础,可以结合分子生物学方法、血清学方法和家系调查等方法进行最终确认。
Objective:To test the A_2 blood group in two cases of Twin-to-twin transfusion syndrome newborn and to research the ABO blood group of their family members.Method:The ABO blood group that the patients and their parents were detected by serological experiment,sequence-specific primer polymerase chain reaction(PCR-SSP)and sequencing of gene sequences.Result:The serological results of the patients specimen were typed as A subtype and genotyped as A_205/O02,the serological results of the mother specimen was typed as O and genotyped as O0 1/O0 2,the serological results of the father specimen was typed as A subtype and genotyped as A_205/O02,and the result of all the family members about sequencing of gene sequences are consistent with PCR-SSP methods.Conclusion:ABO subtype has a genetic basis and can be identified by molecular biological methods combined with serological methods and family surveys.
Objective:To test the A_2 blood group in two cases of Twin-to-twin transfusion syndrome newborn and to research the ABO blood group of their family members.Method:The ABO blood group that the patients and their parents were detected by serological experiment,sequence-specific primer polymerase chain reaction(PCR-SSP)and sequencing of gene sequences.Result:The serological results of the patients specimen were typed as A subtype and genotyped as A_205/O02,the serological results of the mother specimen was typed as O and genotyped as O0 1/O0 2,the serological results of the father specimen was typed as A subtype and genotyped as A_205/O02,and the result of all the family members about sequencing of gene sequences are consistent with PCR-SSP methods.Conclusion:ABO subtype has a genetic basis and can be identified by molecular biological methods combined with serological methods and family surveys.
引文
[1]黄颖,林甲进,朱碎永,等.A2亚型的血清学和分子生物学的对比分析[J].中国卫生检验杂志,2017,27(4):518-520.
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[3]Jeyakanthan M,Meloncelli PJ,Zou L,et al.ABH-Glycan Microarray Characterizes ABO Subtype Antibodies:Fine Specificity of Immune Tolerance After ABOIncompatible Transplantation[J].Am J Transplant,2016,16:1548-1558.
[4]林甲进,朱碎永,施顺秋,等.A2B亚型血型血清学特征及采血前后主要血液指标的变化[J].中国卫生检验杂志,2013,23(12):2623-2624.
[5]曹红军,孟宪军,王照军,等.ABO亚型鉴定结果分析与报告-附B(A)04亚型一例[J].临床血液学杂志,2017,30(1):152-154.
[6]滑世轩,张福明,孙长义,等.AendB亚型鉴定与家系调查及输血治疗对策[J].临床血液学杂志,2016,29(6):980-982.
[7]陈妍,马玲,朱绍汶,等.南京地区汉族人群红细胞A血型亚型分子生物学研究[J].临床血液学杂志,2016,29(5):773-776.
[8]花紫菱,李丽玮,李志强.上海地区人群红细胞A2亚型血清学与分子生物学研究[J].中华医学遗传学杂志,2014,31(5):659-662.
[2]Faria JCP,Victorino CA,Souza FIS,et al.Assessment of the prescription of red blood cell concentrates in the pediatric age group[J].Rev Assoc Med Bras,2018,64:181-186.
[3]Jeyakanthan M,Meloncelli PJ,Zou L,et al.ABH-Glycan Microarray Characterizes ABO Subtype Antibodies:Fine Specificity of Immune Tolerance After ABOIncompatible Transplantation[J].Am J Transplant,2016,16:1548-1558.
[4]林甲进,朱碎永,施顺秋,等.A2B亚型血型血清学特征及采血前后主要血液指标的变化[J].中国卫生检验杂志,2013,23(12):2623-2624.
[5]曹红军,孟宪军,王照军,等.ABO亚型鉴定结果分析与报告-附B(A)04亚型一例[J].临床血液学杂志,2017,30(1):152-154.
[6]滑世轩,张福明,孙长义,等.AendB亚型鉴定与家系调查及输血治疗对策[J].临床血液学杂志,2016,29(6):980-982.
[7]陈妍,马玲,朱绍汶,等.南京地区汉族人群红细胞A血型亚型分子生物学研究[J].临床血液学杂志,2016,29(5):773-776.
[8]花紫菱,李丽玮,李志强.上海地区人群红细胞A2亚型血清学与分子生物学研究[J].中华医学遗传学杂志,2014,31(5):659-662.