[Fut1 gene mutation for para-bombay blood type individual in Fujian Province of China].
This study was aimed to investigate the molecular mechanisms for para-Bombay blood type individual in Fujian Province of China. The para-Bombay blood type of this individual was identified by routine serological techniques. The full coding region of alpha (1,2) fucosyltransferase (FUT1) gene of this individual was amplified by polymerase chain reaction (PCR), then the PCR product was cloned into T vector. The mutation in coding region of fut1 gene was identified by TA cloning, so as to explore the molecular mechanisms for para-Bombay blood type individual. The results indicated that the full coding region of fut1 gene was successfully amplified by PCR. AG deletion at position 547-552 on 2 homologous chromosomes was detected by TA cloning method, leading to a reading frame shift and a premature stop codon. It is concluded that genetic mutation of fut1 gene in this para-bombay blood type individual was h1h1 homozygotic type.
Department of Blood Transfusion, Fujian Institute of Hematology, Union Hospital, Fujian Medical University, Fuzhou 350001, Fujian Province, China.
Hao-Bou
HB
Huang
Li-Ping
LP
Fan
Shi-Jin
SJ
Wai
Feng
F
Zeng
Hai-Yan
HY
Lin
Rong
R
Zhang
D000017:ABO Blood-Group System / Q000235:genetics*; D000368:Aged; D044466:Asian People / Q000235:genetics; D002681:China; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase