Formation of para-Bombay phenotype caused by homozygous or heterozygous mutation of FUT1 gene / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 195-198, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-349738
ABSTRACT
This study was aimed to explore the molecular mechanisms for para-Bombay phenotype formation. The H antigen of these individuals were identified by serological techniques. The full coding region of alpha (1, 2) fucosyltransferase (FUT1) gene of these individuals was amplified by high-fidelity polymerase chain reaction (PCR). PCR product was identified by TOPO cloning sequencing. Analysis and comparison were used to explore the mechanisms of para-bombay phenotype formation in individuals. The results indicated that the full coding region of FUT1 DNA was successfully amplified by PCR and gel electrophoresis. DNA sequencing and analysis found that h1 (547-552delAG) existed in one chromosome and h4 (35C > T) existed in the other chromosome of NO.1 individual. Meantime, h1 (547-552delAG) was found in two chromosomes of NO.2 and NO.3 individual. It also means that FUT1 gene of NO.1 individual was h1h4 heterozygote, FUT1 gene of NO.2 and NO.3 individuals were h1h1 homozygote. It is concluded that homozygous and heterozygous mutation of FUT1 gene can lead to the formation of para-Bombay phenotype.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Sistema ABO de Grupos Sanguíneos
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Povo Asiático
/
Alelos
/
Fucosiltransferases
/
Genética
/
Genótipo
/
Heterozigoto
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Idoso
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2014
Tipo de documento:
Artigo
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