类孟买血型的家系鉴定1例

Identification of a family of Mumbai group

无偿献血者,女,20岁,汉族,第一次献血,在用Metis200全自动血型仪做血型鉴定时发现正反定型结果不一致,血清学初步判定为类孟买型,送上海市血液中心血型参比室做基因测序,现将结果报告如下。

The Mumbai group was found in a routine blood test,and identified by the genetic characteristics of pedigree survey.ABO blood groups of blood donors were identified by serological tests,blood group substances in the saliva was detected by saliva agglutination inhibition test,weak antigen on the red blood cells was detected by absorption elution test,and FUT1 gene and FUT2 gene PCR amplification products of the donors and their parents were detected by direct sequencing.There were two mutations in the proband FUT1gene：AG heterozygosity loss in 547-552 and C→T heterozygous mutation in 658 bit.There was a AG heterozygosity loss in the 547-552 in the mother,while C→T heterozygous mutation in 658 bit in the father.There were nt357C→T mutation of FUT2 gene in the proband and his parents.H gene mutation type has the genetic heterogeneity and gene polymorphism.