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Biomedical subjects

E D Albert

Publications and source records attributed to E D Albert.

At least 19 recordsLinked to original sources
PubMed2005

Bone marrow donor routine HLA typing identified a novel B*07 allele, B*0734, confirmed by allele-specific DNA cycle sequencing.

In this article, we report the identification of a new human leukocyte antigen-B allele in a sample that was tested in our routine typing for bone marrow donors. This novel allele officially designed B*0734 was found in a female donor of Bavarian Caucasoid origin (Laboratory code 121036). The search for unrelated bone marrow donors was initiated by the Aktion Knochenmarkspende Bayern. In comparison to the common B*070201, B*0734 differs at four nucleotide positions, 412 (G-->A), 539 (G-->T), 559 (G-->A) and 560 (A-->C) causing three amino acid substitutions, at postion 138 Asp-->Asn, at position 180 Arg-->Leu and at position 187 Glu-->Thr.

Adult↗
PubMed2005

A novel HLA-B*55 allele, HLA-B*5514, found in a DNA sample derived from a bone marrow donor.

In this study, we report the identification of a new human leucocyte antigen-B (HLA-B) allele in a sample that was found in our routine typing. This novel allele, officially designed HLA-B*5514, was found in a male donor of Bavarian Caucasoid origin (Laboratory code: 117562) typed in order for a request of the bone marrow donor registry Aktion Knochenmarkspende Bayern. Although this novel allele was added to the HLA-B*55 family by the Nomenclature Committee, the next related alleles were found in the HLA-B*56 group; HLA-B*5612 differing in six positions from HLA-B*5514 is the closest related allele.

Adult↗
PubMed2005

A novel A*24 allele, A*2442, was detected through routine bone marrow donor screening.

In this article, we report the identification of a new HLA-A allele found in a DNA sample which was part of the routine bone marrow donor typing performed in our laboratory. This novel allele officially designated as A*2442 was found in a sample from a female Caucasoid donor (Franken, Bavaria, Germany; lab code 142654) and differs from the closest related allele A*2408 by two nucleotide exchanges. In position 81, the A (A*2408) is changed to 81 C in the novel allele A*2442, resulting in an amino acid substitution at codon 27, glutamine (A*2408) is replaced by histidine ((31)Gln-->(31)His). In position 292, the G (A*2408) is changed to C also resulting in an amino acid replacement, the codon 98 asparagine is mutated to histidine ((98)Asn-->(98)His) in the new A*2442 allele. The second allele was determined to be A*0301. Further typing of this sample is B*1501 B*4001.

Alleles↗
PubMed2005

Bone marrow donor routine HLA typing identified a novel B*55 allele, B*5517, confirmed by allele-specific DNA cycle sequencing.

In this article, we report the identification of a new human leukocyte antigen-B allele in a sample that was tested in our routine typing for volunteer bone marrow donors. This novel allele officially designed B*5517 was found in a male donor of Bavarian Caucasoid origin (Laboratory code 150113). The search for unrelated bone marrow donors was initiated by the Aktion Knochenmarkspende Bayern. In comparison with the common B*5501 allele, B*5517 differs at three nucleotide positions all located in exon 3, at position 379 (C-->G), 419 (T-->A), and 420 (A-->C), resulting in two amino acid substitutions at codons 127 and 140. The amino acid 127, leucine, is changed to valine, and the amino acid 140, also a leucine, is replaced by tyrosine in B*5517.

Alleles↗
PubMed2004

Sequence-based typing confirmed a novel B*40 allele, B*4046, which was identified through sequence-specific oligonucleotide hybridization routine typing.

In this paper, we report the identification of a new human leucocyte antigen-B (HLA-B) allele in a sample which has participated in a search for unrelated bone marrow donors which was initiated by the Aktion Knochenmarkspende Bayern. This novel allele officially designed B*4046 was detected by different low-resolution sequence-specific oligonucleotide typings not matching to known allele combinations in a female Caucasoid individual. Confirming the presence of a novel allele by sequence-based typing, the closest-related allele B*400103 differs from the new B*4046 allele by three mutations. This results in an amino acid substitution from threonine to alanine in B*4046 at codon 65, while codon 68 remains conserved and codon 69 "AAG" lysine is replaced by "GAG" glutamic acid in B*4046.

Alleles↗
PubMed2003

Sequence-based typing identifies a novel HLA-DPB1 allele, DPB1*9601.

In this report we describe the identification of a novel HLA-DPB1 allele, DPB1*9601, found in a Caucasian individual sample named ucla#356. The new allele was detected in the DNA of ucla#356 during routine HLA sequence-based typing (SBT) of samples participating in the UCLA International HLA DNA Exchange (number 55) for HLA DNA Proficiency Testing. DPB1*9601 was identical to DPB1*3901 except for a single nucleotide substitution 'G'-->'C' in previously constant position 277 (position 177, respectively, counting only exon 2). This nucleotide change causes an amino acid substitution from aspartic acid in DPB1*3901 to histidine at codon 64 in the novel allele. This new allele has been submitted to the EMBL database and has been assigned the accession number AJ514871. The WHO Nomenclature Committee has officially assigned the name DPB1*9601.

Base Sequence↗
PubMed2003

Novel HLA-Cw*03 allele, Cw*030303, identified by nucleotide sequencing.

In this paper we report the identification of a new HLA- Cw*03 allele in a sample that has been distributed in the International UCLA Terasaki Cell/DNA Exchange. This novel allele officially designed Cw*03033 and renumbered to Cw*030303 (2) found in cell no. 1054 from an Asian Indian donor differs from Cw*030301 by a silent substitution at codon 128, GGG-->GGA (nucleotide position 384). This new allelic variant was confirmed by several other laboratories participating in the UCLA Terasaki Cell/DNA Exchange (3).

Amino Acid Sequence↗
PubMed2003

A novel B*38 allele, B*3809, was identified via sequence -based typing of B-cell line no. 299 of the UCLA International Cell Exchange.

In this paper we report the identification of a new HLA-B allele in a sample that was distributed in the International UCLA Terasaki Cell/DNA Exchange, and the results were summarized in the final report of the 280th Cell Exchange. This novel allele officially designed B*3809 was found in B-cell line no. 299 from a Dutch Caucasoid donor and differs from B*3801 by mutation C-->G at position 483 in exon 3, resulting in an amino-acid substitution at codon 161 from aspartic acid in B*3801 to glutamic acid in B*3809, respectively.

Alleles↗
PubMed2001

MICA, MICB and C1_4_1 polymorphism in Crohn's disease and ulcerative colitis.

MICA and MICB belong to a multicopy gene family located in the major histocompatibility complex (MHC) class I region near the HLA-B gene. They encode for MHC class I molecules, which are induced by stress factors like infection, heat shock or neoplastic transformation and which are mainly expressed on gastrointestinal epithelium. They are recognized by gammadelta T lymphocytes and natural killer (NK) cells. Additionally they are located within a linkage region on chromosome 6p around HLA-B and TNFalpha. Thus the polymorphic MICA and MICB genes are excellent candidate genes for providing the genetic background of inflammatory bowel disease. A strong association of allele A6 of the MICA exon 5 trinucleotide microsatellite polymorphism with ulcerative colitis has been found in Japanese patients. Therefore, we have analysed the MICA exon 5 polymorphism, the MICB intron 1 dinucleotide polymorphism and in addition the tetranucleotide polymorphism C1_4_1, which is located between the MICA gene and the HLA-B gene, in patients of Caucasoid origin with Crohn's disease (n=94) and ulcerative colitis (n=94). In this study we could not find any associations of particular alleles of the MICA, MICB and C1_4_1 polymorphisms with Crohn's disease or ulcerative colitis. We could also not discover any associations of specific two-point or three-point haplotypes with these diseases. Thus it is unlikely that the MICA and MICB genes are involved in causing susceptibility for inflammatory bowel disease, although it cannot be excluded that a weak association could be identified in a larger patient sample.

Colitis, Ulcerative↗
PubMed2001

Identification of a novel HLA-B*2722 allele from a Filipino cell.

We present the novel HLA-allele B*2722 amplified and sequenced from a Filipino individual. This DNA was included several times in the International Cell Exchange, UCLA, and typed at the time as B*27 or B*2706 by the majority of the participating laboratories. The second HLA-B allele of this person is B*3802. B*2704/06 or B*2704/06/10 were suggested by approximately one-third of the laboratories. As we were investigating the intron 3 sequences of B*27 alleles, we also sequenced exon 4 of this Filipino DNA and found a single nucleotide exchange in exon 4 (pos. 704) which was not in concordance with the previous B*2706 typing. Our sequencing results showed that the coding sequence of B*2722 is identical to B*2706 in exon 1, 2 and 3. In exon 4 the B*2722 sequence is identical to B*2704. HLA-B*2704 differs from B*2706 in one base at position 704, a G in B*2704 and a C in B*2706, respectively.

Alleles↗
PubMed2001

Linkage disequilibria between HLA-B, C1_4_1, MICA and MICB.

The polymorphisms of MICA exon 5 (5 alleles), MICB intron 1 (13 alleles), C1_4_1 (6 alleles), HLA-B (29 alleles) and HLA-A (15 alleles) were investigated in a healthy German population. Sequencing was performed for the MICB alleles CA14, CA15, CA17, CA23 and CA26 isolated from different cell lines. Variation to the published sequence was observed for CA14, CA15 and for CA17. At the C1_4_1 locus a new allele (CAAA)9 was identified and confirmed by sequencing. Linkage disequilibria were investigated for two-point- and three-point-haplotypes. Although the average relative delta value correlates loosely with the physical distance from HLA-B to MICB: HLA-B-C1_4_1>HLA-B-MICA>HLA-B-MICB, there are several exceptions to this rule. Analyzing three-point-haplotypes for the segment MICB to HLA-A a wide variation of linkage disequilibria for some of the classical HLA-A, B haplotypes has been observed. While the HLA-A1, B8 haplotype displays strong relative delta values over the entire distance from HLA-A to MICB, other haplotypes have linkage disequilibria only in a limited region.

Base Sequence↗