RESUMEN
Objectives: It is thought that Taiwanese indigenous people were the "first people" to populate Taiwan (Formosa) having been there for over 5000 years, preceding the Dutch colonization (from 1624 to 1662) and Spanish colonization (from 1626 to 1642). Taiwan's indigenes, represented by Austronesian language speakers, currently constitute approximately 2% of the total population in Taiwan. It is unknown whether they evolved from Taiwan's Paleolithic or Neolithic cultures, arrived during or after the Neolithic period from China or Southeast Asia or both. HLA studies on the Taiwanese indigenous population have found several intriguing genetic information showing one or two relatively frequently observed alleles and a small number of relatively less frequently observed ones. We report here a relatively frequently observed HLA-C*07:359 allele in the Taiwanese indigenous population, its linkage with HLA-B*39:01, and its probable associated HLA haplotype in two Taiwanese indigenous families. HLA-C*07:359 is a rarely observed allele in the HLA-C locus in the world populations. The objective of this study is to report the allele HLA-C*07:359 that is more frequently found in the Taiwanese population, especially in the Taiwanese indigenous people, to demonstrate that it has a close linkage with HLA-B*39:01 allele in the HLA-B locus and to show the plausible deduced HLA-A-C-B-DRB1-DQB1 haplotypes in association with HLA-C*07:359 in two families of Taiwanese indigenous unrelated individuals. Materials and Methods: The samples were peripheral whole blood, with dipotassium ethylenediaminetetraacetic acid and/or acid citrate dextrose anticoagulation additives. The sequence-based typing method was employed to confirm the low incidence of the allele of HLA-C*07:359 observed in Taiwanese. Polymerase chain reaction was carried out to amplify exons 2, 3, and 4 of the HLA-A,-B,-C,-DRB1 and-DQB1 loci with group-specific primer sets. Amplicons were sequenced using the BigDye Terminator Cycle Sequencing Ready Reaction Kit in both directions according to the manufacturer's protocol. Results: C*07:359 is an uncommon allele in the HLA-C locus in the world general population, according to our literature review. However, in this study, it is observed in the general Taiwanese population (frequency 0.41%), especially in the Taiwanese indigenous people at a frequency of 0.23%. In addition, we deduced two probable HLA haplotypes in association with C*07:359 in two indigenous families: A*24:02-C*07:359-B*39:01-DRB1*04:36 and A*24:02-C*07:359-B*39:01-DRB1*04:04. Conclusion: The two deduced HLA haplotypes associated with the uncommon C*07:359 allele that we report here are valuable for HLA tissue typing laboratories for reference purposes and for stem cell transplantation donor search coordinators to determine the likelihood of finding compatible donors in unrelated bone marrow donor registries for patients bearing the uncommon HLA allele. Since C*07:359 was found mostly in the Taiwanese indigenous population, we think the allele and its haplotypes we report here are important in population and anthropological studies.
RESUMEN
One nucleotide substitution at codon 217 of HLA-DRB1*16:02:01:01 results in a novel allele, HLA-DRB1*16:02:11.
Asunto(s)
Médula Ósea , Humanos , Cadenas HLA-DRB1/genética , Alelos , Secuencia de Bases , Análisis de Secuencia de ADN , Taiwán , Prueba de HistocompatibilidadRESUMEN
Nucleotide substitutions in exon 2 of DRB1*08:34 result in the novel DRB1*08:113 allele.
Asunto(s)
Médula Ósea , Alelos , Secuencia de Bases , Cadenas HLA-DRB1/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , TaiwánRESUMEN
One nucleotide substitution in exon 3 of HLA-B*55:02:01:01 results in a novel allele, HLA-B*55:123.
Asunto(s)
Médula Ósea , Antígenos HLA-B , Alelos , Secuencia de Bases , Antígenos HLA-B/genética , Prueba de Histocompatibilidad/métodos , Humanos , Análisis de Secuencia de ADN , Taiwán , Donantes de TejidosRESUMEN
One nucleotide substitution at codon 169 of HLA-DRB1*14:05:01:01 results in a novel allele, HLA-DRB1*14:05:05.
Asunto(s)
Médula Ósea , Alelos , Secuencia de Bases , Exones/genética , Cadenas HLA-DRB1/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , TaiwánRESUMEN
Four nucleotide substitutions in exon 3 of HLA-B*39:01:01:01 result in a novel allele, HLA-B*39:36.
Asunto(s)
Médula Ósea , Antígenos HLA-B , Alelos , Secuencia de Bases , Antígenos HLA-B/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , TaiwánRESUMEN
One nucleotide substitution in codon 47 of HLA-A*11:01:01:01 results in a novel allele, HLA-A*11:85.
Asunto(s)
Médula Ósea , Antígenos HLA-A , Alelos , Secuencia de Bases , Antígenos HLA-A/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , TaiwánRESUMEN
Nucleotide substitutions in codons 67 and 119 of HLA-B*15:02:01:01 result in a novel allele, HLA-B*15:404.
Asunto(s)
Médula Ósea , Antígenos HLA-B , Alelos , Secuencia de Bases , Exones/genética , Antígenos HLA-B/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , Singapur , Donantes de TejidosRESUMEN
Nucleotide substitutions in exon 2 of DRB1*14:54:01:01 result in the novel DRB1*14:119 allele.
Asunto(s)
Médula Ósea , Alelos , Secuencia de Bases , Cadenas HLA-DRB1/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , SingapurRESUMEN
Four nucleotide substitutions in exon 3 of HLA-B*15:01:01:01 result in a novel allele, HLA-B*15:360.
Asunto(s)
Médula Ósea , Antígenos HLA-B , Alelos , Secuencia de Bases , Antígenos HLA-B/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , Taiwán , Donantes de TejidosRESUMEN
One nucleotide substitution in codon 182 of HLA-A*11:01:01:01 results in a novel allele, HLA-A*11:32:01.
Asunto(s)
Médula Ósea , Antígenos HLA-A , Alelos , Secuencia de Bases , Antígenos HLA-A/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , TaiwánRESUMEN
One nucleotide substitution in codon 95 of HLA-C*07:04:01:01 results in a novel allele, HLA-C*07:199:01.
Asunto(s)
Antígenos HLA-C , Trasplante de Células Madre Hematopoyéticas , Alelos , Secuencia de Bases , Exones/genética , Antígenos HLA-C/genética , Células Madre Hematopoyéticas , Prueba de Histocompatibilidad , Análisis de Secuencia de ADN , Donante no EmparentadoRESUMEN
One nucleotide substitution in codon 108 of HLA-C*03:03:01:01 results in a novel allele, HLA-C*03:88.
Asunto(s)
Médula Ósea , Antígenos HLA-C , Alelos , Secuencia de Bases , Exones/genética , Antígenos HLA-C/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
One nucleotide substitution in codon 120 of HLA-B*18:01:01:01 results in a novel allele, HLA-B*18:116.
Asunto(s)
Médula Ósea , Antígenos HLA-B , Alelos , Secuencia de Bases , Exones/genética , Antígenos HLA-B/genética , Humanos , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
One nucleotide substitution in Codon 58 of HLA-C*06:02:01:01 results in a novel allele, HLA-C*06:195.
Asunto(s)
Antígenos HLA-C , Trasplante de Células Madre Hematopoyéticas , Alelos , Secuencia de Bases , Exones/genética , Antígenos HLA-C/genética , Células Madre Hematopoyéticas , Prueba de Histocompatibilidad , Análisis de Secuencia de ADN , TaiwánRESUMEN
One nucleotide substitution at nucleotide 594 of HLA-DRB1*14:54:01:01 results in a novel allele, HLA-DRB1*14:227.
Asunto(s)
Médula Ósea , Cadenas HLA-DRB1 , Alelos , Secuencia de Bases , Exones/genética , Cadenas HLA-DRB1/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , Taiwán , Donantes de TejidosRESUMEN
OBJECTIVE: HLA-C*03:187 is a rare frequency allele in the human leukocyte antigen (HLA)-C locus. The purpose of this investigation is to indicate the ethnicity of C*03:187 and its deduced plausible HLA haplotype in association in Taiwanese unrelated bone marrow stem cell donors. MATERIALS AND METHODS: A DNA sequence-based typing procedure was used to verify the rare frequency allele C*03:187. Employing group-specific primer sets' polymerase chain reaction was carried out to amplify exons 2 and 3 of HLA-A locus, HLA-B locus, exon 1 to exon 7 of the HLA-C locus, and exon 2 of the HLA-DRB1 locus. The amplified gene products were sequenced employing the BigDye® Terminator Cycle Sequencing Ready Reaction kits in both directions according to the manufacturer's instructions. RESULTS: The DNA sequence of C*03:187 is identical to C*03:03:01:01 from exon 1 to exon 7, except for codon 152 of exon 3 where GAG of C*03:03:01:01 is replaced by GTG in C*03:187. The nucleotide replacement causes one amino acid change to the protein sequence of C*03:03:01:01 at position 152 where glutamic acid (E) is changed to a valine (V) in C*03:187. The deduced plausible HLA haplotype in association with C*03:187 in Taiwanese is as A*24:02-B*35:01-C*03:187-DRB1*11:01. CONCLUSION: The data on the deduced plausible HLA haplotype in association with the low-frequency C*03:187 allele that we described in this report are valuable for immunogenetics laboratories for reference purposes. In addition, they can be utilized by search coordinators in hematopoietic stem cell transplant programs to determine a strategy for locating compatible donors in unrelated bone marrow donor registries for a patient with this unusual HLA allele.
RESUMEN
One nucleotide substitution in codon 55 of HLA-DRB1*07:01:01:01 results in a novel allele, HLA-DRB1*07:13.
Asunto(s)
Médula Ósea , Donantes de Tejidos , Alelos , Secuencia de Bases , Cadenas HLA-DRB1/genética , Prueba de Histocompatibilidad , Humanos , Análisis de Secuencia de ADN , TaiwánRESUMEN
One nucleotide substitution in codon 38 of HLA-DQB1*06:01:01:01 results in a novel allele, HLA-DQB1*06:132.
Asunto(s)
Médula Ósea , Alelos , Exones/genética , Cadenas beta de HLA-DQ/genética , Prueba de Histocompatibilidad , Humanos , Malasia , Análisis de Secuencia de ADNRESUMEN
Nucleotide substitutions in codon 38 of HLA-DQB1*05:03:01:01 result in a novel allele, HLA-DQB1*05:66:01.