RESUMEN
HLA-A*02:405 differs from HLA-A*02:06:01:01 by one nucleotide substitution in codon 161 in exon 3.
Asunto(s)
Antígenos HLA-A , Humanos , Alelos , Prueba de Histocompatibilidad , Codón , Análisis de Secuencia de ADN , Antígenos HLA-A/genéticaRESUMEN
HLA-A*02:404 differs from HLA-A*02:06:01:01 by one nucleotide substitution in codon 116 in exon 3.
Asunto(s)
Pueblos del Este de Asia , Antígenos HLA-A , Humanos , Alelos , Secuencia de Bases , Antígenos HLA-A/genética , Nucleótidos , Análisis de Secuencia de ADNRESUMEN
HLA-B*15:269 differs from HLA-B*15:63 by two nucleotide substitutions in exon 3.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Humanos , Alelos , Prueba de Histocompatibilidad , Antígenos HLA-B/genética , Exones/genética , Análisis de Secuencia de ADNRESUMEN
HLA-B*07:248 has one nucleotide change from HLA-B*07:18:01 where Tyrosine (Y) is changed to Serine (S).
Asunto(s)
Pueblos del Este de Asia , Células Madre Hematopoyéticas , Humanos , AlelosRESUMEN
OBJECTIVE: To study rare para-Bombay blood type Bmh and to investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family. METHODS: ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing. RESULTS: The rare para-Bombay blood type Bmh was identified in the proband, with ABO*B.01/ABO*O.01.01 genotype. Two variants of FUT1 gene, c.508dupT and c.787A>C, were found in the proband. The cloning sequencing revealed that the two variants were on different alleles, and the haplotype of FUT1 gene was h508dupT/h787C. Both of the two variants were predicted to cause inactivation of the enzyme, which is consistent with the result of serological techniques. CONCLUSION: Two new alleles of FUT1 gene (h508dupT and h787C), which were associated with para-Bombay phenotype, were identified in the Chinese pedigree.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Fucosiltransferasas , Sistema del Grupo Sanguíneo ABO/genética , China , Femenino , Fucosiltransferasas/genética , Genotipo , Humanos , Fenotipo , Galactósido 2-alfa-L-FucosiltransferasaRESUMEN
HLA-A*32:74 has one nucleotide change from HLA-A*32:01:01:01 where alanine (211) is changed to glutamate.
Asunto(s)
Antígenos HLA-A , Alelos , Secuencia de Bases , China , Antígenos HLA-A/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-DRB1*15:123 has one nucleotide change from HLA-DRB1*15:01:01:01 where Threonine (90) is changed to Isoleucine.
Asunto(s)
Células Madre Hematopoyéticas , Donantes de Tejidos , Alelos , Secuencia de Bases , Cadenas HLA-DRB1/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-B*46:64 has one nucleotide change from HLA-B*46:01:01:01 where Histidine (113) is changed to Arginine.
Asunto(s)
Antígenos HLA-B , Alelos , Secuencia de Bases , Donantes de Sangre , China , Antígenos HLA-B/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-A*31:97 differs by three nucleotide and two amino acid changes from HLA-A*31:01:02:01.