Serological and molecular analysis of a case with para-Bombay phenotype caused by a h(nt328G to A) mutation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 435-437, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-335108
ABSTRACT
<p><b>OBJECTIVE</b>To explore the serological characteristics and molecular basis for an individual with para-Bombay phenotype.</p><p><b>METHODS</b>Blood type of the proband was determined with routine serological methods. Exons 6 and 7 of the ABO gene and coding regions of the FUT1 and FUT2 genes were amplified by PCR and sequenced.</p><p><b>RESULTS</b>The para-Bombay phenotype was confirmed to be of Ah-secretion type. The genotype of the individual was determined as A102/O01. Position 328 of the FUT1 gene was mutated from A to G, resulting in replacement of Alanine (Ala) at position 110 by Threonine (Thr).</p><p><b>CONCLUSION</b>The G to A mutation of nt328 of the FUT1 gene probably underlies the para-Bombay phenotype in this individual.</p>
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sistema del Grupo Sanguíneo ABO
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Exones
/
Mutación Puntual
/
Alelos
/
Genética
/
Genotipo
/
Mutación
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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