Study on molecular mechanism and pedigree investigationof para-bombay blood group caused by rare mutations at position h235 and position h649 of FUT1 gene.
- VernacularTitle:FUT1基因h235位和h649位罕见突变组合致类孟买血型分子机制研究及家系调查
- Author:
Xiaoyue CHU
1
;
Hengxin LI
1
;
Min LI
2
;
Juan MAO
1
;
Qinqin ZUO
1
;
Weiwei ZHANG
1
;
Dazhou WU
1
;
Liangzi ZHANG
1
;
Hong WANG
1
;
Hua XU
1
Author Information
- Publication Type:Journal Article
- Keywords: Para-bombay phenotype; H antigen; FUT1 gene; Gene mutation
- From: Chinese Journal of Blood Transfusion 2021;34(6):578-580
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To study the molecular mechanism of para-bombay blood group caused by two rare mutation combinations and investigate the pedigree. 【Methods】 ABO and H antigens were detected by serological test, and the ABO blood group was confirmed by gene detection; the FUT1 gene was amplified by PCR and sequenced. 【Results】 Serological results showed that the proband was a rare para-bombay blood B
hm , Le(a-b+ ), and the proband′s parents were both B Le (a-b + ). The sequencing results showed that the proband and his mother had mutation at h235 G→C of FUT1 gene. Proband and his father had mutation at h649 G→T of FUT1 gene. 【Conclusion】 The combination of two rare mutations resulted in the formation of a para-bombay phenotype, which is helpful to clarify the gene polymorphism and genetic heterogeneity of para-bombay phenotype, providing data support and theoretical basis for its blood group identification and safe and reasonable blood use of para-bombay phenotype.
