Sequence analysis for a case with Para-Bombay AB blood type / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 809-811, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-888402
ABSTRACT
OBJECTIVE@#To explore the molecular basis for a rare case with Para-Bombay AB blood type.@*METHODS@#Serological method was used to determine the blood type of the proband. Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing.@*RESULTS@#Serological results showed that the proband was a Para-Bombay AB subtype. His genotype was determined as ABO*A1.02/B.01. The proband was also found to harbor c.551-552delAG and c.881-882delTT of the FUT1 gene. For his four children, there were three type B and one type A, though the expression of the H type was normal.@*CONCLUSION@#The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband. Carrier of single-strand deletions may have a normal ABO phenotype.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
ABO Blood-Group System
/
Sequence Analysis
/
Alleles
/
Fucosyltransferases
/
Genotype
Limits:
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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