论文部分内容阅读
目的对疑似含有复合型ABO糖基转移酶基因的标本进行血清学、基因分型及序列测定,阐述青岛地区复合型ABO糖基转移酶基因的分子机制和分布。方法经过常规血清学检测发现正反定型不符且怀疑为复合型ABO糖基转移酶基因的标本30例;采用PCR-SSP方法进行ABO基因进行初步分型,并对ABO基因的第6,第7外显子及其侧翼序列进行直接测序;采用单克隆测序方法检测第6,第7外显子及第6内含子的单体型;软件分析比对测序结果。结果血清学结果显示所有标本正定型为AB型,反定含有抗-A或抗-B抗体;PCR-SSP结果显示标本基因型为O01/B或A/B型;直接测序和单体型测序结果显示标本为复合型ABO糖基转移酶(Cis AB型或B(A)型)。30例标本中发现了10例Cis AB型:Cis AB01var(1例),Cis AB01(9例);20例B(A)型:B(A)04(18例),B(A)02(2例)。结论 B(A)04,Cis AB01和B(A)02单体型在青岛地区Cis AB和B(A)亚型中最为常见。
OBJECTIVE: To investigate the molecular mechanism and distribution of the ABO glycosyltransferase gene in Qingdao region by serological, genotyping and sequencing of suspected ABO glycosyltransferase gene. Methods After routine serological tests, we found 30 cases of positive and negative typing suspected ABO glycosyltransferase gene and the genotypes of ABO gene by PCR-SSP. Exon and its flanking sequences were sequenced directly. The haplotypes of exons 6 and 7 and intron 6 were detected by single nucleotide sequencing. Results The serological results showed that all the specimens were positive for type AB and negative for anti-A or anti-B antibodies. PCR-SSP showed the genotypes were O01 / B or A / B. The direct sequencing and haplotype sequencing The results showed that the specimen was a complex ABO glycosyltransferase (Cis AB type or B (A) type). Ten cases of Cis AB were found in 30 specimens: Cis AB01var (1 case) and Cis AB01 (9 cases); 20 cases of B (A) B (A) 04 2 cases). Conclusion The haplotypes B (A) 04, Cis AB01 and B (A) 02 are the most common in the Cis AB and B (A) subtypes in Qingdao.