Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 250-254, 2010.
Article
en Zh
| WPRIM
| ID: wpr-349003
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WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family.</p><p><b>METHODS</b>ABO and H phenotypes of the proband and his pedigree were characterized by serological techniques. The exons 6 and 7 of the ABO gene and full coding region of alpha-1,2-fucosyltransferase (FUT1) gene of the pedigree were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotypes of compound heterozygote of the FUT1 gene were also analyzed by cloning sequencing.</p><p><b>RESULTS</b>Three para-Bombay phenotypes were identified in nine family members by serological technology. Three heterozygous variants (35C/T, 235G/C and 682A/G) were found in FUT1 gene of the proband, and the hapotype of FUT1 gene was h(235C)/h(35T+628G)according to the cloning sequencing. The alleles h(235C)and h(35T+628G) caused G79R, A12V and M228V amino acid substitutions in alpha-1,2-fucosyltransferase, respectively.</p><p><b>CONCLUSION</b>A novel 235G>C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree.</p>
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Índice:
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Asunto principal:
Linaje
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Sistema del Grupo Sanguíneo ABO
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Haplotipos
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Análisis de Secuencia de ADN
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Alelos
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Fucosiltransferasas
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Frecuencia de los Genes
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Genética
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2010
Tipo del documento:
Article