278C > T variant of the alpha-1, 3-galactosyltransferase allele responsible for Bw subgroup / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 631-634, 2006.
Artículo
en Chino
| WPRIM
| ID: wpr-285063
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the molecular genetic basis of the Bw variant and identify novel alleles at ABO locus in Chinese Han population.</p><p><b>METHODS</b>Serological techniques were performed to characterize erythrocyte phenotype of a proband. Mutations of the ABO gene were screened by polymerase chain reaction, reverse transcription-polymerase chain reaction and DNA sequencing.</p><p><b>RESULTS</b>The proband was identified as Bw phenotype by serological technology and family study. A novel Bw variant allele was identified in the gDNA and cDNA. The novel allele was observed a missense mutation (278 C to T) at the exon 6 which resulted in an amino acid substitution (P93L) compared with B101 allele. The 278 C to T was the first report mutation position in exon 6 among Bw alleles, so the P93L amino acid substitution was different from others Bw variants which had amino acid substitutions in a conserved functional domain reported previously.</p><p><b>CONCLUSION</b>A novel Bw allele (278 C to T) responsible for Bw variant is reported in Chinese population.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sistema del Grupo Sanguíneo ABO
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
China
/
Exones
/
Sustitución de Aminoácidos
/
Mutación Missense
/
Pueblo Asiatico
/
Alelos
/
Galactosiltransferasas
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2006
Tipo del documento:
Artículo
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