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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):834-6. doi: 10.3760/cma.j.issn.1003-9406.2015.06.018.

[Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype].

[Article in Chinese]

Author information

1
Liaoning Blood Center, Shenyang, Liaoning 110044, P.R. China. ljp_63@163.com.

Abstract

OBJECTIVE:

To explore the molecular mechanism for a case with para-Bombay phenotype caused by α-1,2-fucosyltransferase (FUT1) gene mutations.

METHODS:

Blood phenotype of the propositus was determined by standard serological testing. Polymerase chain reaction-sequence specific primer (PCR-SSP) and direct sequencing of PCR product were used to analyze its ABO genotype. The PCR product of FUT1 gene was sequenced and analyzed.

RESULTS:

The phenotype of the propositus was initially detected as para-Bombay A type. Direct sequencing of ABO gene showed that the genotype of the proband was A101/O01 (261G/del), which was consistent with the result of PCR-SSP. Two homo-mutations, 35C>T and 658C>T, were detected in the FUT1 gene by sequencing, and the genotype was determined as h(35T+658T)/h(35T+658T).

CONCLUSION:

h(35T+658T)/h(35T+658T) is responsible for the para-Bombay phenotype of the propositus. The genotype is rare even in para-Bombay populations.

[Indexed for MEDLINE]

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