Study on a novel mutation of B glycosyltransferase gene related with an ABx variant / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 566-569, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-232255
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular basis of an individual featuring an ABx variant of ABO blood group system.</p><p><b>METHODS</b>Serological assays were used to characterize the erythrocyte phenotypes and salivary ABH secretors. All of the seven exons and flanking introns of ABO glycosyltransferase gene were amplified with polymerase chain reaction (PCR). And the products were sequenced bidirectionally following enzyme digestion. Exons 6 and 7 were also subcloned and analyzed for haplotypes of the ABO gene.</p><p><b>RESULTS</b>Erythrocytes of the proband have expressed a strong A antigen and a weak B antigen, which was identified as a rare ABx variant in addition with other serological features. Nine heterozygous sites in exon 6 (297A/G) and exon 7 (467C/T, 526C/G, 657C/T, 703G/A, 796C/A, 803G/C, 808T/A, 930G/A) of the coding region of the ABO gene were identified. Based on haplotype analysis, one allele was determined as common A102, whilst another was consistent with B101 except for an 808T>A mutation which has resulted in replacement of phenylalanine with isoleucine at position 270 of glycosyltransferase B.</p><p><b>CONCLUSION</b>The 808T>A mutation of the glycosyltransferase B gene may decrease the enzymatic activity and result in the Bx variant.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sistema del Grupo Sanguíneo ABO
/
Haplotipos
/
Exones
/
Glicosiltransferasas
/
Genética
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS