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目的对1例ABO血型鉴定困难的个体及其家系进行分子生物学研究,阐述其遗传机制。方法对先证者及其家系,采用常规血清学方法进行ABO血型检测;PCR-SSP进行ABO基因分型;并对ABO基因第6、7外显子进行直接测序和克隆测序确定其单倍体型;通过HLA分型、STR短串联重复序列检测对其家系基因遗传状态进行分析。结果先证者血清学结果为A_3B_3型,分子生物学方法检测结果显示先证者ABO基因,HLA-A、B、DR基因及多个STR位点存在2个以上等位基因。结论先证者血型为罕见的开米拉血型,应用分子生物学方法可以清晰的阐释其家系遗传特点。
OBJECTIVE: To study the molecular biology of 1 individual with ABO blood group identification difficulties and their pedigrees, and to explain its genetic mechanism. Methods The ABO genotypes were detected by routine serological methods in the probands and their families. ABO genotyping was performed by PCR-SSP. The haplotypes of haploids ABT6 and exons 6 and 7 were sequenced and sequenced directly The genetic status of pedigrees was analyzed by HLA typing and STR short tandem repeat detection. Results The serological results of probands were type A_3B_3. The results of molecular biology showed that more than two alleles existed in ABO, HLA-A, B and DR genes and multiple STR loci in probands. Conclusion The blood type of probands is a rare type of open Miracles. Molecular genetic methods can clearly explain the genetic characteristics of their families.