A novel HLA-B*18:80 allele identified by SBT typing in an Italian bone marrow volunteer donor.

A novel allele, officially named B*18:80, was detected in a Caucasoid individual by polymerase chain reaction-sequence-specific primers and SBT. The new allele differs from B*18:01:01 at two nucleotidic positions in codon 24 at exon 2.

Description of the novel HLA-DPB1*137:01 allele found in an Italian subject.

In this report, we describe the identification and sequencing of a novel HLA-DPB1 allele, found in an Italian haematological patient. This allele is identical to DPB1*17:01 except for a single nucleotide substitution (GAC→GAG) at position 57, which changes the encoded amino acid from Asp to Glu.

Description of two new HLA-C alleles: C*08:63 and C*14:44.

Here, we present two new HLA allelic variants at C locus: HLA-C*08:63 and HLA-C*14:44 detected by sequence-based typing. In both cases, a single-nucleotide mutation in exon 3 is responsible for a change in aminoacid translation. The extremely high polymorphism of human leucocyte antigen (HLA) system in human genome is responsible for the capability to recognize different antigens, including non-self-MHC (Major Histocompatibility Complex) molecules. This very high polymorphism and the improving accuracy of genomic HLA typing methods lead to an exponential increasing of known HLA alleles. Here, we describe the characterization of two new HLA-C alleles identified by sequence-based typing (SBT): HLA-C*08:63 and HLA-C*14:44.

Molecular modelling of HLA-B*35:132.

Here we describe the molecular modelling of the new variant HLA-B*35:132. This allele shows one mismatch with B*35:01:01:01 in exon 3 at position 575 where a T is substituted by a C, which implies an amino acidic change from Leucine to Proline. This seems not to alter the molecular structure and not to compromise the HLA complex and T-cell receptor interaction.

Identification of two novel HLA-A alleles: A*24:199 and A*02:324.

Here, we describe two new HLA-A alleles: A*24:199 and A*02:324. The two new variants are attributed to a single nucleotide mutation namely A→C for A*24:199 and G→A for A*02:324. Both point mutations are responsible for a change in translated amino acids.

Two novel alleles at HLA-B locus identified in two volunteer bone marrow donors by sequence-based typing.

Two novel human leucocyte antigen (HLA) class I alleles have been identified in two Italian individuals. HLA-B*27:07:02 is identical to HLA-B*27:07:01 except for a nucleotide substitution at position 846 (A->G) resulting in a silent mutation. HLA-B*35:206 differs from the most similar allele, HLA-B*35:08:01, because of a single base mutation at position 149 (G->C) causing an aminoacidic change at codon 26 from Gly to Ala.

Description of the new allele HLA-DQB1*04:03:02.

A new variant of HLA-DQB1*04:03 allele officially designated as HLA-DQB1*04:03:02 was detected in two unrelated Caucasoid individuals by polymerase chain reaction-sequence-specific primers and SBT. The new allele nucleotide sequence differs from HLA-DQB1*04:03:01 for a single silent point mutation in exon 2 at position 159, codon 21.

A silenced allele in the Colton blood group system.

BACKGROUND: The antigens of the Colton blood group system, Co(a) and Co(b), are encoded by a single gene that produces the aquaporin-1 (AQP1) protein, a water channel-forming protein, and are characterized by a single nucleotide polymorphism (SNP). A healthy Caucasoid blood donor originally typed as Co(a-b-) with commercial anti-Co(b) typed Co(a-b+) when retested with another anti-Co(b). Retyped with two different molecular biology methods, the sample came out Co(a)/Co(b). With the aim of understanding these discrepancies, serological, cytometric and molecular biology tests were carried out. METHODS: Absorption/elution studies with propositus red cells and controls were performed. The region spanning exon 1 to exon 4 of the Colton gene was sequenced, and flow cytometry analyses were carried out. RESULTS: Absorption/elution studies showed the absence of Co(a) and a weak expression of Co(b). DNA sequencing confirmed a CT heterozygosity at nucleotide position 134 (i.e. Co(a)/Co(b)), and an additional heterozygous CT was found at position 112. The presence of the Co(b) allele that encodes for the Co(b) antigen was confirmed. The new allele has the base cytosine at nucleotide 134 (Co(a)), in cis with the new nucleotide 112T. The nucleotide substitution 112C>T causes a missense mutation leading to an amino acid change from proline (CCG) to serine (TCG) at codon 38. CONCLUSION: The substitution found at codon 38 results in a modified AQP1 protein which explains the Co(a-b+) phenotype and possibly the weak expression of Co(b).

Identification of two new HLA-DRB1 alleles, DRB1*040405 and DRB1*1190.

We describe here two novel DRB1 alleles, officially named *040405 and *1190. DRB1*040405 differs from DRB1*0404 for one point mutation at codon 72 with no coding changes. DRB1*1190 is identical to DRB1*110101 except for a nucleotide substitution at codon 24 which causes an aminoacidic mutation from valine to methionine. Over time we have been witnessing the identification of a great number of new HLA alleles. DRB1 allelic variability is mostly present in the second exon and more that 760 alleles have been so far identified. Here, we report the description of two novel DRB1 alleles, named *040405 and *1190, and identified in two Caucasoid subjects.

Sequence of a novel HLA-B*51 allele in a volunteer haematopoietic stem cell donor.

We describe a novel HLA-B*51 allele detected by DNA direct sequencing. The sequence of this allele has been officially named B*51:78 as a confirmatory sequence. This new allele nucleotide sequence differs from HLA-B*51:01:01 for two point mutations in exon 2 where codons 79-80 change from CGG-ATC to CGC-ACC (p.Ile80Thr).

A discrepancy between serological and molecular typing results led to identification of a novel HLA-B*57 allele: HLA-B*5728N.

Summary Here, we describe the characterisation of a new allelic variant of HLA-B*57. The novel allele, HLA-B*5728N, was identified with sequence-based typing in a Caucasoid family. HLA-B*5728N, differs from HLA-B*5701 because of a nucleotide substitution at position 420 (C->G) resulting in a coding change from Tyrosine to a stop codon.

Characterization of two novel HLA class I alleles: HLA-A*310103 and HLA-B*9531.

Two novel human leucocyte antigen (HLA) class I alleles were characterized by means of sequencing-based typing techniques. HLA-A*310103 was identified in a cord blood unit from a Caucasoid individual. The sequence of this allele is identical to that of HLA-A*310102 except for a silent mutation in exon 3 at position 480 (G --> A). HLA-B*9531 was found in a Caucasoid female patient registered on the heart transplantation waiting list in the North Italy Transplant programme. This new variant differs from HLA-B*1503 at position 572 (G --> C) in exon 3. This nucleotide change leads to an amino acidic substitution at codon 167 from tryptophan to serine.

Distribution of killer cell immunoglobulin-like receptors genes in the Italian Caucasian population.

BACKGROUND: Killer cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells. The KIR gene family is polymorphic: genomic diversity is achieved through differences in gene content and allelic polymorphism. The number of KIR loci has been reported to vary among individuals, resulting in different KIR haplotypes. In this study we report the genotypic structure of KIRs in 217 unrelated healthy Italian individuals from 22 immunogenetics laboratories, located in the northern, central and southern regions of Italy. METHODS: Two hundred and seventeen DNA samples were studied by a low resolution PCR-SSP kit designed to identify all KIR genes. RESULTS: All 17 KIR genes were observed in the population with different frequencies than other Caucasian and non-Caucasian populations; framework genes KIR3DL3, KIR3DP1, KIR2DL4 and KIR3DL2 were present in all individuals. Sixty-five different profiles were found in this Italian population study. Haplotype A remains the most prevalent and genotype 1, with a frequency of 28.5%, is the most commonly observed in the Italian population. CONCLUSION: The Italian Caucasian population shows polymorphism of the KIR gene family like other Caucasian and non-Caucasian populations. Although 64 genotypes have been observed, genotype 1 remains the most frequent as already observed in other populations. Such knowledge of the KIR gene distribution in populations is very useful in the study of associations with diseases and in selection of donors for haploidentical bone marrow transplantation.

A sensitive method for detection of sulfamethazine and N4-acetylsulfamethazine residues in environmental samples using solid phase immunoextraction coupled with MALDI-TOF MS.

Sulfamethazine (SMT) and its major metabolite, N(4)-acetylsulfamethazine (NA-SMT), were each recovered from spiked water (0.1 ppb) and 10% (w/v) aqueous suspensions of soil (1 ppb) or composted manure (1 ppb), by using a three-stage solid phase immunoextraction (SPIE) system, followed by detection with matrix-assisted laser/desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS). Sulfonamide recovery rates are reported for separate stages of the SPIE system and for trace-level sulfonamide SPIE extraction from the environmental samples. SPIE MALDI-TOF MS is a rapid and definitive technique with potentially better efficiency relative to other established trace-level sulfonamide analytical methods. SPIE MALDI-TOF MS required 1.5 h per batch (8-24 samples/batch) for sample enrichment, 5 min per batch for probe preparation, and 5 min per sample to acquire and process the spectrum. This is the first time MALDI-TOF MS has been reported as a potential means of detecting trace-level drug residues in complex environmental samples.

Comparison of MALDI-TOF mass spectrometric to enzyme colorimetric quantification of glucose from enzyme-hydrolyzed starch.

Successful quantification of the glucose produced by enzyme hydrolysis of starch was achieved by a matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) protocol, using sorbitol as an internal standard. The starch contents measured by MALDI-TOF MS of corn starch, fiber-enriched oat flour derivatives, oat and barley flours, and barley flour/corn starch composites were evaluated in comparison to a widely accepted and validated method of starch determination, which relies on enzyme colorimetry (EC). The average starch content measured in a series of corn starch samples of different masses was 93 and 101% for EC and MALDI-TOF MS, respectively, values that represent the estimated purity of the sample. There was an agreement of 99% between the starch contents determined by the two analytical methods for complex flour-derived samples. Starch values estimated by MALDI-TOF MS consistently showed a greater degree of variability than those determined by EC, but this limitation was readily compensated by rapid acquisition of multiple mass spectra. This study is the first to report the quantification of glucose by MALDI-TOF MS, and it offers new perspectives into the potential utility of MALDI-TOF MS as a definitive tool for monosaccharide analysis and rapid starch determination in complex samples.

Intellectual assessment of children with asymptomatic congenital cytomegalovirus infection.

The findings of previous studies examining the neurocognitive development of children with clinically inapparent (asymptomatic) cytomegalovirus (CMV) infection have demonstrated mixed results. These studies have generally depended on small sample sizes (i.e., < 50). We examined the intellectual development of children with asymptomatic congenital CMV infection using a sample larger than previous studies. Two hundred and four cases aged 5 to 200 months were compared with 177 uninfected siblings ranging in age from 6 to 203 months. Parents were administered the Developmental Profile, a measure of developmental achievement. Children who were older than 30 months were administered an objective intelligence measure. Results of this study showed that children with asymptomatic congenital CMV infection do not demonstrate intellectual impairment, and that they perform similarly to uninfected siblings. Parents tended to overestimate their child's level of functioning regardless of whether the child had CMV infection.

Cultural factors enhancing resilience and protecting against maladjustment in African American adolescents with mild mental retardation.

Researchers have found elevated risk for maladjustment associated with being an African American adolescent in an urban environment as well as being an individual with mental retardation. The culturally relevant factors of ethnic identification, intergenerational support, and church support were investigated in relation to high risk exposure on maladjustment in 147 urban African American adolescents enrolled in EMR special education classes. Maladjustment was measured with both self- and parent-report. Risk exposure was measured in the personal, social, and community domains. Results indicate that presence of cultural factors were associated with better adjustment generally. Furthermore, ethnic identification appeared to protect adolescents exposed to high-risk conditions against experiencing significantly elevated maladjustment. Implications of culture on intervention and prevention were discussed.

Demographic and geographic variations of oral health among African Americans based on NHANES III.

UNLABELLED: As efforts continue to improve the health of all US citizens, oral health must not be overlooked. Oral health is an integral part of overall health status and oral diseases are among the most prevalent of all health problems. OBJECTIVES: To describe the oral health status and oral health behaviors of African Americans. METHODS: The National Health and Nutrition Examination Survey (NHANES III) data set was used to examine a range of oral health indicators of African Americans with specific attention to demographic and geographic factors. The original data set consisted of 20,050 subjects, gathered through the use of complex, multi-stage, stratified and clustered sampling techniques. Only African Americans were included in this study which resulted in a sample of 5,616. Statistical analysis was conducted to allow the proper modeling of the complex, stratified, multistage survey design and sample weights of NHANES III. RESULTS: Sixty-two percent of respondents indicated that they only visit the dentist when needed and had no regular visitation schedule. Dental health was worse for those individuals who were poor, unemployed, and uninsured. Regional differences in dental care appeared with individuals living in the south reporting poorer dental health. CONCLUSIONS: The findings from this study are useful for identifying sociodemographic and geographic factors related to oral health status. The insights gained from this study illustrate the need for tailoring oral health promotion programmes and services to specific groups within the African American community because service utilisation and response patterns and perceptions may be different.

Identification of two novel HLA-DRB1*11 alleles (DRB1*110404 and DRB1*1161) in two Italian cord blood units.

We describe the isolation and characterization of two novel HLA-DRB1*11 alleles, officially named DRB1*1161 and 110404. These two new variants were both identified in two Caucasoid individuals. The exon 2 sequence of DRB1*1161 is identical to that of DRB1*110101 except at codon 41, where a nucleotide substitution (GAC>AAC) is responsible for an amino-acidic change from Asp to Asn. The exon 2 sequence of the second novel allele described here, DRB1*110404, differs from that of DRB1*110401 only at codon 34 where the nucleotidic change CAA>CAG gives rise to a silent mutation.