RESUMO
One nucleotide substitution at residue 577 of HLA-B*27:04:01 results in a novel allele, HLA-B*27:120.
RESUMO
One nucleotide substitution at residue 628 of HLA-DRB1*12:01:01:01 results in a novel allele, HLA-DRB1*12:68.
Assuntos
Alelos , Povo Asiático/genética , Cadeias HLA-DRB1/genética , Sequência de Bases , Éxons/genética , Humanos , TaiwanRESUMO
One nucleotide replacement in codon 334 of HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:566.
Assuntos
Alelos , Éxons , Antígenos HLA-C/genética , Polimorfismo de Nucleotídeo Único , Doadores de Tecidos , Substituição de Aminoácidos , Sequência de Bases , Códon/química , Expressão Gênica , Antígenos HLA-C/imunologia , Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Humanos , Reação em Cadeia da Polimerase , Alinhamento de Sequência , Análise de Sequência de DNA , TaiwanRESUMO
Chimerism is defined as the presence of 2 or more than 1 genetically distinct cell populations in an organism. Dispermic chimeras are derived from the fertilization of 1 or 2 matured nuclei by 2 sperms. We here report detection of a healthy and phenotypically normal female with normal ABO red blood cell typing in whom dispermic chimerism was suspected after 3 alleles were identified at multiple human leukocyte antigen (HLA) loci using molecular HLA analysis. Molecular HLA typing showed the donor to have 3 HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 alleles in blood, saliva and nail samples. In addition, 3 of her 9 short tandem repeat loci also showed to have 3 distinct alleles in blood, nail and saliva specimens. In all investigations, the third alleles were attributed to a dual paternal contribution. This case represents a dispermic chimerism, with 2 paternal and 1 maternal haplotypes variably distributed throughout body tissues in a healthy and phenotypically normal female without abnormalities in erythrocyte ABO blood group. The origin of this chimerism is probably due to the fertilization of a single egg and its polar body, or a parthenogenetic egg, by 2 sperms.
Assuntos
Alelos , Quimerismo , Genótipo , Padrões de Herança , Doadores não Relacionados , Sistema ABO de Grupos Sanguíneos/sangue , Sistema ABO de Grupos Sanguíneos/genética , Sistema ABO de Grupos Sanguíneos/imunologia , Adulto , Feminino , Expressão Gênica , Antígenos HLA-A/sangue , Antígenos HLA-A/genética , Antígenos HLA-A/imunologia , Antígenos HLA-B/sangue , Antígenos HLA-B/genética , Antígenos HLA-B/imunologia , Antígenos HLA-C/sangue , Antígenos HLA-C/genética , Antígenos HLA-C/imunologia , Cadeias beta de HLA-DP/sangue , Cadeias beta de HLA-DP/genética , Cadeias beta de HLA-DP/imunologia , Cadeias beta de HLA-DQ/sangue , Cadeias beta de HLA-DQ/genética , Cadeias beta de HLA-DQ/imunologia , Cadeias HLA-DRB1/sangue , Cadeias HLA-DRB1/genética , Cadeias HLA-DRB1/imunologia , Voluntários Saudáveis , Transplante de Células-Tronco Hematopoéticas , Humanos , Repetições de Microssatélites , Unhas/química , Linhagem , Saliva/química , TaiwanRESUMO
Recombination and point mutation may result the formation of HLA-C*04:212.
Assuntos
Alelos , Éxons , Antígenos HLA-C/genética , Mutação Puntual , Recombinação Genética , Substituição de Aminoácidos , Sequência de Bases , Transplante de Medula Óssea , Códon , Genótipo , Antígenos HLA-C/imunologia , Teste de Histocompatibilidade , Humanos , Alinhamento de Sequência , Análise de Sequência de DNA , Taiwan , Doadores não RelacionadosRESUMO
One nucleotide replacement at residue 210 of HLA-A*11:01:01:01 results in a novel allele, HLA-A*11:01:69.
Assuntos
Alelos , Éxons , Antígeno HLA-A11/genética , Mutação Puntual , Sequência de Bases , Códon , Genótipo , Antígeno HLA-A11/imunologia , Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Humanos , Alinhamento de Sequência , Análise de Sequência de DNA , Taiwan , Doadores não RelacionadosRESUMO
Two nucleotide changes at residue 142 (G â A) and residue 144 (A â C) of HLA-A*02:01:01:01 result in a novel allele, HLA-A*02:570.
Assuntos
Alelos , Antígenos HLA-A/genética , Células-Tronco Hematopoéticas/metabolismo , Doadores não Relacionados , Sequência de Bases , Éxons/genética , Humanos , Dados de Sequência Molecular , TaiwanRESUMO
We report here two HLA-B*27 alleles, B*27:86 and B*27:25, found in two Taiwanese blood donors. The new sequence of B*27:86 is identical to B*27:04:01 in exons 2 and 3, except at nucleotide 602 (A â G) in exon 3. The nucleotide change caused an amino acid substitution from E to G at amino acid residue 177. The sequence of B*27:25 is identical to B*27:04:01 in exons 2, 3, 4, 5, 6 and 7 except at nucleotides 538, 539, 559 and 560 in exon 4. The nucleotide changes caused amino acid substitutions from L to W and from E to L at residues 156 and 163, respectively. The generation of B*27:86 was probably resulted by a point mutation while the generation of B*27:25 may have been derived from a sequence recombination event between B*46:01:01 and B*27:04:01. The probable HLA-A, -B and -DRB1 haplotypes in association with B*27:86 and B*27:25 may be deduced as A*11:53-B*27:86-DRB1*12 and A*11:01-B*27:25-DRB1*04:05, respectively.
Assuntos
Alelos , Doadores de Sangue , Técnicas de Genotipagem/métodos , Antígeno HLA-B27/genética , Sequência de Aminoácidos , Povo Asiático/genética , Sequência de Bases , Haplótipos , Humanos , Dados de Sequência Molecular , Polimorfismo Genético , Homologia de Sequência de Aminoácidos , Homologia de Sequência do Ácido Nucleico , TaiwanRESUMO
Graves' disease has been associated with different human leukocyte antigen (HLA) genes in different races. To evaluate the association of HLA type in Taiwanese with Graves' disease, the HLA-A, -B, and -DRB1 alleles in a total of 236 Taiwanese adults with Graves' disease and 533 racially matched normal control subjects were examined using the PCR-SSOP (sequence specific oligonucleotide probe) technique. The prevalence of HLA-A*0207, -B*2704, -B*4601, and -DRB1*0901 among patients with Graves' disease was found to be increased, with odds ratios (OR) of 2.21, 3.82, 1.76 and 1.62, respectively. However, after correction for multiple comparisons, the relative risk of HLA-A*0207 susceptibility to Graves' disease remained statistically significant and the haplotype HLA-A*3303 -B*5801 -DRB1*0301 had a significantly protective effect. None of the other 2- or 3-locus haplotypes showed any significantly increased risk. Although HLA-DRB1*1405 showed an increased relative risk in patients with GO (Graves' opthalmopathy) (OR 4.61) when compared with patients without GO, the relative risk after adjusting for the number of comparisons was not significant. Taiwanese patients with Graves' disease have HLA-associated susceptibility genes which are similar to those found in Chinese patients in Hong Kong and Singapore. However, the finding in this study of a higher frequency of HLA-A*0207 in Taiwanese with Graves' disease has not been documented in any other ethnic group.