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The present study identified single nucleotide polymorphisms (SNP) in the coding and untranslated regions of the ovine prolactin gene of Chios sheep. By developing a cost-effective direct sequence-based typing assay, around 600 bp of reliable sequencing data and clear identification of heterozygous positions was achieved. Five SNP were found, located in exons 2 (KC764410:g.567G>A, g.625C>T, g.683C>A) and 3 (KC764410:g.2015C>A, g.2101G>A), whereas the remaining exons were monomorphic. The identified SNP were synonymous, with the exception of the g.567G>A SNP, which results in an Arg to His amino acid change. As the sequencing cost of the sequence-based typing assay was 20 orders of magnitude lower compared with a standard Sanger method, the assay was also used as a genotyping tool. The identified polymorphism was genotyped for 247 ewes and was subsequently used in mixed model association analyses of milk yield, milk fat content, and litter size at birth. The association analysis revealed a significant dominance effect of 0.17 ± 0.07 of the g.2015C>A SNP on milk fat percentage, whereas a dominance effect of -21.33 ± 10.51 of the same SNP on total lactation milk yield was also estimated. The g.2015C>A SNP explained 2.47 and 3.68% of the total phenotypic variance of milk yield and milk fat percentage, respectively, whereas the corresponding values for the animal variance were 7.14 and 11.75%. A suggestive association of the nonsynonymous g.567G>A SNP with litter size at birth was also detected. [ABSTRACT FROM AUTHOR]

Abstract: The purpose of this study was to investigate the distribution of Legionella pneumophila sg 1 sequence types within the water supplies of 56 healthcare facilities (HCFs) in the Piemonte region. Using Sequence-Based Typing (SBT) we typed 22 environmental strains of L. pneumophila sg 1 obtained during routine testing from 2004 to 2009. Thirty-three percent of the STs obtained from our analysis were unique to the EWGLI database. Of the 22 analysed environmental strains, 11 STs were found in man-made water systems that were associated with human disease. Four STs, which in our study belonged to strains isolated in hospital with reported clinical cases, were already known in the literature. The presence of these STs was confirmed by reports of clinical and nosocomial cases (single cases or clusters), especially for ST 1, ST 23, and ST 42, the most frequently and widely distributed STs worldwide. This is the first report in Italy where environmental strains of L. pneumophila isolated from a large geographical area have been identified using SBT. This study confirms that the circulation of some STs is correlated with the development of cluster epidemics in the community or even isolated cases of nosocomial origin. Better identification of the strains which cause the majority of disease would allow for more targeted intervention measures. [Copyright &y& Elsevier]

Highlights: [•] We identified 32 alleles at five polymorphic SLA loci, including 18 novel alleles. [•] Eleven SLA haplotypes were found in Bama miniature pigs at the molecular level. [•] Three crossovers were identified within the SLA region in 281 Bama miniature pigs. [•] The presence of two expressed SLA-1 loci was confirmed in five class I haplotypes. [•] The obtained information is important for enriching the IPD-MHC SLA database. [ABSTRACT FROM AUTHOR]

The novel HLA‐A*11:155 allele differs from the closest allele A*11:01:01:01 in exon 3. [ABSTRACT FROM AUTHOR]

Human leukocyte antigen (HLA) incompatibilities are the most important immunological barriers to bone marrow transplant success when using unrelated donors. Until recently, standards for donor selection included serological methods for HLA class I antigens and DNA-based typing for HLA class II alleles. In our center cytotoxic T-lymphocyte precursor (CTLp) assays have been an integrated part of the search selection procedure as well. More recently, DNA-based typing for HLA class I became available. This allowed us to determine the correlation of CTLp frequencies directed against incompatibilities at the HLA-A, -B, and -C locus in 211 donor-recipient pairs. HLA class I incompatibilities are significantly (p < 0.001) associated with high CTLp frequencies. Exceptions did occur, high CTLp frequencies are seen in 14% of the HLA-A, -B, and -C allele matched pairs, whereas in 7% of the pairs mismatched for HLA-A or -B a low CTLp frequency occurred. The successful outcome of transplants performed in the latter cases suggest that the CTLp test can be used as a tool to detect permissible mismatches when no fully matched donor is available. The influence of HLA-C mismatches on the CTLp outcome was less clear. Although in the majority of mismatched pairs (64%) the CTLp frequency was high, in 36% of the pairs the CTLp frequency was low. Analysis of HLA amino acid sequences was performed on the HLA-C allele mismatched group. An amino acid difference was always found at five polymorphic positions 97, 99, 113, 114, and 116 situated at the peptide binding groove in the high CTLp frequency group, whereas in the low CTLp frequency group this was observed in only 9 of 17 combinations (p < 0.001). However, this is mainly due to Cw&ast;0303-0304 mismatches. In conclusion, although there is a highly significant correlation between the outcome of the CTLp frequency test and HLA allele class I typing, exceptions occur. It is unclear whether they are all clinically relevant but they certainly provide additional insight in allograft recognition. [Copyright &y& Elsevier]

To examine the genetic diversity in Morocco, the polymorphism at the HLA-DRB1 locus was investigated in two populations: the Metalsa group consisting of Berbers from north Morocco (who speak the Tarifit language and live in the Nador area), and the Chaouya group who are Arabic-speaking people from west Morocco (Atlantic coast) living in the Settat area. The DRB1 alleles of 197 healthy unrelated individuals were identified by direct DNA sequencing of exon 2 using fluorescently-labeled primers. A total of 28 and 29 alleles at DRB1 locus were identified in the Metalsa and Chaouya groups, respectively. The most frequent alleles in the Metalsa group are DRB1&ast;03011 (20.2%), DRB1&ast;0701 (12.12%), and DRB1&ast;1302 (11.11%). In the Chaouya group, DRB1&ast;0701 (16.33%), DRB1&ast;15011 (12.76%), and DRB1&ast;03011 (11.73%) are most common. Each population exhibits some specific variants and some uncommon alleles. The frequency of the DRB1&ast;03011 allele differs significantly between the two populations (p = 0.0311). The DRB1 frequency distributions in the two groups suggest the effects of balancing selection. The interpopulation analysis highlighted a strong relatedness, based on genetic distances, between the two Moroccan groups and the other north Africans (the Moroccans from El Jadida area, Moroccan Souss Berbers, Algerians, and Tunisians), and to a lesser extent with the Iberians, French, and Ethiopians. [Copyright &y& Elsevier]

Abstract: Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 polymorphisms were examined in Madeira Island populations. The data was obtained at high-resolution level, using sequence-based typing (SBT). The most frequent alleles at each loci were: A*020101 (24.6%), B*5101 (9.7%), B*440201 (9.2%), and DRB1*070101 (15.7%). The predominant three-loci haplotypes in Madeira were A*020101–B*510101–DRB1*130101 (2.7%) and A*010101–B*0801–DRB1*030101 (2.4%), previously found in north and central Portugal. The present study corroborates historical sources and other genetic studies that say Madeira were populated not only by Europeans, mostly Portuguese, but also sub-Saharan Africans due to slave trade. Comparison with other populations shows that Madeira experienced a stronger African influence due to slave trade than Portugal mainland and even the Azores archipelago. Despite this African genetic input, haplotype and allele frequencies were predominantly from European origin, mostly common to mainland Portugal. [Copyright &y& Elsevier]

A novel HLA-B*07 allele, B*0740, has been identified by sequence-based typing (SBT) in the Chinese Han population. This new allele is identical to B*0705 and B*0706 for exons 2, 3, and 4, except for a single nucleotide at position 605 of codon 202 in exon 3 (AAG→ATG) leading to an amino acid change from lysine to methionine. SBT was performed following allele separation using the Haploprep® method. The serological equivalence of B*0740 to the B7 antigen did not change. [ABSTRACT FROM AUTHOR]

In this study, we aimed to associate the molecular typing of Legionella isolates with a culture technique during routine Legionella hospital environmental surveillance in hot water distribution systems (HWDSs) to develop a risk map able to be used to prevent nosocomial infections and formulate appropriate preventive measures. Hot water samples were cultured according to ISO 11731:2017. The isolates were serotyped using an agglutination test and genotyped by sequence-based typing (SBT) for Legionella pneumophila or macrophage infectivity potentiator ( mip ) gene sequencing for non- pneumophila Legionella species. The isolates' relationship was phylogenetically analyzed. The Legionella distribution and level of contamination were studied in relation to temperature and disinfectant residues. The culture technique detected 62.21% of Legionella positive samples, characterized by L. pneumophila serogroup 1, Legionella non- pneumophila , or both simultaneously. The SBT assigned two sequence types (STs): ST1, the most prevalent in Italy, and ST104, which had never been isolated before. The mip gene sequencing detected L. anisa and L. rubrilucens . The phylogenetic analysis showed distinct clusters for each species. The distribution of Legionella isolates showed significant differences between buildings, with a negative correlation between the measured level of contamination, disinfectant, and temperature. The Legionella molecular approach introduced in HWDSs environmental surveillance permits (i) a risk map to be outlined that can help formulate appropriate disinfection strategies and (ii) rapid epidemiological investigations to quickly identify the source of Legionella infections.

KIR2DL1*030 differs from KIR2DL1*00302 by a single non-synonymous mutation in exon 4. [ABSTRACT FROM AUTHOR]

KIR2DL1*00602 differs from KIR2DL1*00302 by a non-synonymous mutation in exon 7. [ABSTRACT FROM AUTHOR]

The full‐length genomic sequence of KIR3DL1*0040103 differs from KIR3DL1*0040101 at three nucleotide positions. [ABSTRACT FROM AUTHOR]

KIR3DS1*084 allele differs from the closest allele KIR3DS1*01301 at nucleotide 308 C>T in exon 3. [ABSTRACT FROM AUTHOR]

KIR3DS1*085 allele differs from the closest allele KIR3DS1*01301 at nucleotide 934 C>T in exon 5. [ABSTRACT FROM AUTHOR]

The novel KIR3DL1*01505 allele differs from the closest allele KIR3DL1*0150201 by a single silent mutation. [ABSTRACT FROM AUTHOR]