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-B*52:49N has one nucleotide change from HLA-B*52:01:01:01 where 601G (GAG) is changed to T(TAG).
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Alelos , Secuencia de Bases , China , Antígenos HLA-B/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-DRB1*08:76 is a novel allele differing by a single nucleotide from the HLA-DRB1*08:03:02 allele.
Asunto(s)
Nucleótidos , Alelos , Exones/genética , Cadenas HLA-DRB1/genética , HumanosRESUMEN
HLA-A*31:97 differs by three nucleotide and two amino acid changes from HLA-A*31:01:02:01.
Asunto(s)
Antígenos HLA-A , Alelos , Secuencia de Bases , Antígenos HLA-A/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-B*55:71 has one nucleotide change from HLA-B*55:02:01:01 where histidine (3) is changed to tyrosine.
Asunto(s)
Antígenos HLA-B , Trasplante de Células Madre Hematopoyéticas , Alelos , Secuencia de Bases , China , Antígenos HLA-B/genética , Células Madre Hematopoyéticas , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
BACKGROUND: Bombay and para-Bombay phenotypes, which arise from gene mutations of α-1,2-fucosyltransferase FUT1, are very rare in Chinese population. A para-Bombay phenotype Chinese individual with two novel FUT1 mutations was reported here. STUDY DESIGN AND METHODS: The peripheral blood and saliva samples of the proband and her family members were collected after informed consent. ABO and H blood group phenotyping was performed by haemagglutination methods. ABO genotype was determined by PCR-SSP kit. A, B, and H antigens in saliva were detected by a hemagglutination inhibition test. Fragments encompassing the full coding region of FUT1 and FUT2 genes were PCR amplified and sequenced. Allelic sequences were validated by cloning and sequencing individual colonies. RESULTS: The serologic reaction results of the proband revealed that A, B, and H antigen were absent on RBCs, but B and H antigen were presented in saliva, and the serum contains anti-H. The proband was assigned as B/O1 by ABO genotyping. Two new heterozygous mutations of FUT1 gene, c.508dupT and c.787A>C, were identified through direct sequencing of PCR-amplified products. TA cloning and sequencing confirmed that two novel mutations were on different alleles. FUT2 gene sequence of the proband is consistent with standard. The other family members of the proband showed normal phenotypes of ABO blood group and their genotypes are consistent with phenotypes. CONCLUSION: Two novel FUT1 alleles, with the previously not reported mutations c.508dupT and c.787C, respectively, are responsible for the para-Bombay phenotype detected in the sample from the proband.
Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Alelos , Fucosiltransferasas/genética , Genotipo , China , Femenino , Humanos , Masculino , Galactósido 2-alfa-L-FucosiltransferasaRESUMEN
HLA-B*15:01:39 has one synonymous nucleotide change from HLA-B*15:01:01:01 at nucleotide 117 (residue 15 Proline).
Asunto(s)
Antígenos HLA-B , Alelos , Secuencia de Bases , China , Antígenos HLA-B/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-A*31:73 has one nucleotide change from HLA-A*31:01:02:01 where Serine (71) is changed to Alanine.
Asunto(s)
Antígenos HLA-A , Alelos , Secuencia de Bases , China , Antígenos HLA-A/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-A*02:411 differs from HLA-A*02:01:01:01 at nucleotides 770 and 771, where Threonine (T) replaces Isoleucine (I) at residue 233.
Asunto(s)
Antígenos HLA-A , Donantes de Tejidos , Alelos , Secuencia de Bases , China , Antígenos HLA-A/genética , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-A*31:72 has one nucleotide change from HLA-A*31:01:02:01, where histidine (188) is changed to arginine.
Asunto(s)
Antígenos HLA-A , Trasplante de Células Madre Hematopoyéticas , Donantes de Tejidos , Alelos , Secuencia de Bases , China , Antígenos HLA-A/genética , Células Madre Hematopoyéticas , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADNRESUMEN
HLA-B*46:01:08 has one synonymous nucleotide change from HLA-B*46:01:01 at nucleotide 801 (codon 243 Lysine).
Asunto(s)
Pueblo Asiatico/genética , Donantes de Sangre , Antígenos HLA-B/genética , Transfusión de Plaquetas , Alelos , China , Genotipo , Antígeno HLA-B35/genética , Heterocigoto , Prueba de Histocompatibilidad/métodos , Humanos , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADNRESUMEN
HLA-A*11:01:46 has one synonymous nucleotide change from HLA-A*11:01:01:01 at nucleotide 807 (codon 245 Alanine).