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目的 研究A102/B(A)02的分子遗传学特点。方法 2016年6月-2016年12月用血清学方法检测先证者和其父母的ABO血型,采用聚合酶链反应SSP基因分型技术和SBT测序分型技术分别扩增先证者和其父母ABO基因的第6、7外显子序列,PCR产物直接测序分析,杂合子结果进行克隆测序分析。结果 先证者红细胞上B抗原减弱,表现为AB_3,直接测序发现第7外显子nt467C/T杂合和nt700C/T杂合,克隆测序和家系分析确认先证者血型为A102/B(A)02,与A101参比序列相比,A102在nt467碱基突变C>T,导致156位脯氨酸(CCG)变成亮氨酸(CTG),B(A)02的序列与参比序列B101相比,nt700发生碱基突变C>G,导致234位脯氨酸(CCC)变成丙氨酸(GCC)。结论a-1,3-N-乙酰半乳糖胺基转移酶基因位于7外显子的467位C>T突变是产生A102等位基因的原因,a-1,3半乳糖基转移酶基因位于第7外显子700位C>T突变是产生B(A)02等位基因的原因。
Objective To study the molecular characteristics of A102 / B (A) 02. Methods From June 2016 to December 2016, serological methods were used to detect the ABO blood group of probands and their parents. Polymerase chain reaction (SSP) genotyping and SBT sequencing were used to amplify the probands and their parents ABO gene 6,7 exon sequence, PCR products direct sequencing analysis, heterozygous results were cloned and sequenced. Results The B antigen on the erythrocytes of the probands was weakened and showed AB_3. The direct hybridization of the exon 7 nt467C / T and nt700C / T was confirmed by direct sequencing. Clone sequencing and pedigree analysis confirmed that the blood type of the proband was A102 / B (A ) 02, the A102 base mutation at nt467 C> T compared to the A101 reference sequence resulted in the CTG change at position 156, the sequence of B (A) 02 and the reference sequence Compared to B101, a base mutation C> G at nt700 resulted in the conversion of 234 proline (CCC) to alanine (GCC). Conclusion The 467 C> T mutation of a-1,3-N-acetylgalactosaminyltransferase gene in exon 7 is responsible for the A102 allele. The a-1,3 galactosyltransferase gene is located in The 700th C> T mutation at exon 7 is responsible for the B (A) 02 allele.