RESUMO
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.
Assuntos
Sistema ABO de Grupos Sanguíneos/genética , Alelos , Fucosiltransferases/genética , Genótipo , China , Feminino , Humanos , Masculino , Galactosídeo 2-alfa-L-FucosiltransferaseRESUMO
HLA-B*15:01:39 has one synonymous nucleotide change from HLA-B*15:01:01:01 at nucleotide 117 (residue 15 Proline).
Assuntos
Antígenos HLA-B , Alelos , Sequência de Bases , China , Antígenos HLA-B/genética , Humanos , Análise de Sequência de DNARESUMO
HLA-B*46:01:08 has one synonymous nucleotide change from HLA-B*46:01:01 at nucleotide 801 (codon 243 Lysine).
Assuntos
Povo Asiático/genética , Doadores de Sangue , Antígenos HLA-B/genética , Transfusão de Plaquetas , Alelos , China , Genótipo , Antígeno HLA-B35/genética , Heterozigoto , Teste de Histocompatibilidade/métodos , Humanos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
HLA-A*11:01:46 has one synonymous nucleotide change from HLA-A*11:01:01:01 at nucleotide 807 (codon 245 Alanine).
Assuntos
Povo Asiático/genética , Doadores de Sangue , Antígeno HLA-A11/genética , Polimorfismo de Nucleotídeo Único , Sequência de Bases , China , Códon/genética , Éxons , Células-Tronco Hematopoéticas/citologia , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNA , Mutação SilenciosaRESUMO
HLA-B*51:01:41 has one synonymous nucleotide change from HLA-B*51:01:01:01 at nucleotide 216 (codon 48 arginine).
Assuntos
Doadores de Sangue , Plaquetas/química , Éxons/genética , Antígenos HLA-B/genética , Teste de Histocompatibilidade/métodos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos , Alelos , Substituição de Aminoácidos , Sequência de Bases , Humanos , Homologia de SequênciaRESUMO
HLA-B*13:64 has one amino acid change from HLA-B*13:02:01:01 where 94 Threonine is changed to Isoleucine.
Assuntos
Alelos , Antígeno HLA-B13/genética , China , Códon , Genótipo , Antígenos HLA-A/genética , Antígeno HLA-A11/genética , Antígeno HLA-B7/genética , Cadeias HLA-DRB1/genética , Transplante de Células-Tronco Hematopoéticas , Humanos , Isoleucina/genética , Software , Treonina/genéticaRESUMO
The novel HLA-B allele, HLA-B*50:31, was identified by sequencing genomic DNA.
Assuntos
Alelos , Éxons , Antígenos HLA-B/genética , Polimorfismo de Nucleotídeo Único , Substituição de Aminoácidos , Povo Asiático , Sequência de Bases , Códon/química , Expressão Gênica , Genótipo , Antígenos HLA-B/imunologia , Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Humanos , Reação em Cadeia da Polimerase , Alinhamento de Sequência , Análise de Sequência de DNA , Doadores de TecidosRESUMO
HLA-B*40:06:07 has one synonymous nucleotide change from HLA-B*40:06:01:01 at nucleotide 81 (codon 3 histidine).
Assuntos
Doadores de Sangue , Códon , Antígenos HLA-B/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Mutação Silenciosa , Alelos , Sequência de Bases , Genótipo , Transplante de Células-Tronco Hematopoéticas , Humanos , Análise de Sequência de DNA/métodos , Homologia de SequênciaRESUMO
HLA-DRB1*04:153 has one nucleotide change from HLA-DRB1*04:01:01, where 14 Glutamate is changed to Glutamine.
Assuntos
Povo Asiático/genética , Doadores de Sangue , Ácido Glutâmico/genética , Glutamina/genética , Cadeias HLA-DRB1/genética , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos , Sequência de Aminoácidos , Sequência de Bases , Teste de Histocompatibilidade , Humanos , Homologia de SequênciaRESUMO
HLA-A, -B and -DRB1 allele frequencies and their haplotype frequencies in 21,918 Chinese residents living in Liaoning Province, who were registered as volunteer donors of China Marrow Donor Registry, were investigated. They are composed of 93.37% Han Chinese, 5.1% Manchus, 0.57% Mongols, 0.46% Hui persons, 0.29% Koreans and 0.14% Xibe ethnic group. In total eighteen different HLA-A alleles, forty-eight different HLA-B alleles and fourteen different HLA-DRB1 alleles have been identified. Their frequencies are in agreement with the Hardy-Weinberg equilibrium. For Han Chinese in Liaoning, 1,534 different HLA-A-B-DRB1 haplotypes were identified, with a frequency of higher than 0.01%. A*30-B*13-DRB1*07, A*02-B*46-DRB1*09 and A*02-B*13-DRB1*12 are the most frequent haplotypes among Liaoning Han. While Liaoning Han, Liaoning Manchu, Liaoning Mongol, Liaoning Hui and Liaoning Korean share the northern Han characteristic haplotypes, all minority ethnic groups with the exception of Liaoning Manchu have developed their own unique HLA profiles. This dataset characterizes the HLA allele and haplotype frequencies in the Liaoning area and suggests that it is different from those in other parts of China and ethnic groups, which implicates transplant donor searching strategies and studies on population genetics.
Assuntos
Povo Asiático/genética , Frequência do Gene/genética , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cadeias HLA-DRB1/genética , Haplótipos/genética , Adolescente , Adulto , China , Etnicidade/genética , Feminino , Geografia , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Grupos Minoritários , Filogenia , Doadores de Tecidos , Adulto JovemRESUMO
OBJECTIVE: To identify a novel human leukocyte antigen(HLA) allele in Chinese population. METHODS: HLA typing was carried out with polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP). The HLA-B exons 1-7 of the proband were amplified and the product was cloned using a TOPO TA cloning sequencing kit to separate the two alleles. Both strands of exons 2 and 3 of selected colonies were sequenced. Sequence-based typing (SBT) was used to identify and analyze the difference between the new allele and the closest matching HLA-B allele. RESULTS: HLA typing indicated a SSOP pattern which did not match with known HLA-B alleles. The results of the sequencing suggested the HLA-B alleles of the proband as B*59:01 and a novel allele. The HLA-B exon 3 sequence of the novel allele was different from any known alleles. This allele differs from the closest matching B*54:06 allele by 6 nucleotides, which included nt486 (G to C), nt527 (A to T), nt538 (T to C), nt539 (G to T), nt559 (C to A) and nt560 (T to C) in exon 3, resulting in substitutions of three amino acids including Glu to Val at codon 152, Trp to Leu at codon 156 and Leu to Thr at codon 163. CONCLUSION: A novel HLA-B allele has been identified and has been designated as HLA-B*54:09 by WHO Nomenclature Committee for Factors of the HLA System.
Assuntos
Éxons , Antígenos HLA-B/genética , Alelos , Sequência de Bases , China , Humanos , Dados de Sequência Molecular , Análise de Sequência de DNA/métodosRESUMO
OBJECTIVE: To identify and confirm a novel HLA allele. METHODS: A new human leukocyte antigen class I allele was found during routine HLA genotyping by polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) and sequencing-based typing (SBT). RESULTS: The novel HLA-B*52 allele was identical to B*52:01:01 with an exception of one base substitution at position 583 of exon 3 where a C was changed to T resulting in codon 195 changed from CAC(H) to TAC(Y). CONCLUSION: A new HLA class I allele, B*52:11, is identified, and is named officially by the WHO Nomenclature Committee.
Assuntos
Alelos , Antígenos HLA-B/genética , Sequência de Aminoácidos , Sequência de Bases , Genótipo , Humanos , Dados de Sequência Molecular , Alinhamento de Sequência , Análise de Sequência de DNARESUMO
OBJECTIVE: To identify a novel human leukocyte antigen (HLA) allele. METHODS: HLA typing was carried out with PCR-SSOP. Molecular cloning and DNA sequencing were used to identify the sequence of a potential novel allele and the difference between this new allele and other known alleles was analyzed. RESULTS: HLA genotyping of one sample gave different results. The sequencing results showed that the HLA B alleles of the proband were B*151101 and a novel allele. The nucleotide sequence of the novel allele was different from all other known B alleles. It had one nucleotide change from the closest matching allele B*460101 at nucleotide 527 (A to T) in exon 3, resulting in an amino acid change from E (GAG) to V (GTG) at codon 176. CONCLUSION: A novel HLA B allele was identified and officially designated as HLA B*4609 by WHO Nomenclature Committee for Factors of the HLA System in November, 2006.
