RESUMEN
The new allele shows one nucleotide change from C*07:02:01:01 at 351 nt from C to A, resulting in an amino acid change at codon 93 of exon 3 from H to Q.
Asunto(s)
Alelos , Exones/genética , Antígenos HLA-C/genética , Mutación/genética , Secuencia de Aminoácidos , Sondas de ADN de HLA/genética , Trasplante de Células Madre Hematopoyéticas , Prueba de Histocompatibilidad , Humanos , Italia , Datos de Secuencia Molecular , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Donantes de TejidosRESUMEN
In this article, we report two new human leukocyte antigen-C (HLA-C) alleles, HLA-Cw*0314 and Cw*1511, which were identified during routine tissue typing of donors for the Australian Bone Marrow Donor Registry and Australian Cord Blood Bank. HLA-Cw*0314 shows six codon changes in exon 3 compared to Cw*030401 and shares some sequence homology with Cw*07 alleles. Cw*1511 has two nucleotide changes compared with Cw*150201 in exon 2, both resulting in amino acid changes in the protein sequence.
Asunto(s)
Alelos , Sondas de ADN de HLA/genética , Variación Genética , Antígenos HLA-C/genética , Australia , Secuencia de Bases , Bancos de Muestras Biológicas , Médula Ósea/metabolismo , Exones/genética , Sangre Fetal/metabolismo , Humanos , Datos de Secuencia Molecular , Análisis de Secuencia de ADNRESUMEN
We report here the exon 2 sequence of a new HLA-DRB5 allele, DRB5*0106, that was identified in two volunteer bone marrow donors from the Swiss national registry. This new allele differs from DRB5*0101 by five amino acids at positions 67, 70, 71, 85 and 86. It is associated with DRB1*1501 and DQB1*0602. This unusual DRB1*1501-DRB5*0106 association increases the complexity of the DR2 group, although it appears to be very rare, at least in our population. HLA-DRB5*0106 can be readily detected upon DR generic oligotyping, provided the two probes that mark the major DRB5 subtypes, DRB5*0101 and DRB5*02, respectively, are included in the assay.
Asunto(s)
Antígenos HLA-DR/genética , Alelos , Secuencia de Aminoácidos , Secuencia de Bases , Células de la Médula Ósea , ADN/aislamiento & purificación , Sondas de ADN de HLA/genética , Exones , Femenino , Prueba de Histocompatibilidad , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Suiza , Población Blanca/genéticaRESUMEN
Unrelated volunteer donors (69) recruited by the National Marrow Donor Program were HLA typed by DNA-based methods for both the HLA-A and -B loci. Each donor had been previously typed by serology by at least two independent laboratories. Of the 69 samples, all serologic laboratories were in concordance for HLA-A in 62 typed samples and for HLA-B in 48 typed samples. Of the serologically concordant samples, 5 samples typed for HLA-A and 7 samples typed for HLA-B received DNA and serology types differing in their level of resolution. One sample typed for HLA-A and 3 samples typed for HLA-B by DNA methods gave different results from their serologic assignments. Of the samples exhibiting disparities among the different serologic typing laboratories, the DNA-defined types of 7 samples typed for HLA-A and 18 samples typed for HLA-B were consistent with at least one of the serologic assignments. The DNA types for the remaining 3 HLA-B typed samples did not agree with the serologic assignments and their alleles were subsequently sequenced. One of these sequences was a previously undefined allele, B*1537. Sharing of polymorphic sequences among HLA allelic products creates difficulties for consistent serologic assignments of some types complicating the process of identifying potential donors from bone marrow registries. Thus, the use of DNA-based typing techniques for characterization of donor class I types should allow a more consistent definition of types and should speed the donor selection process.