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Identification of a novel frequent RHCE*ce308T variant allele in Chinese D- individuals, resulting in a C+c- phenotype.

BACKGROUND: The RHCE allele is highly polymorphic; more than 60 variants have been described leading to diminished expression of C, c, E, and e antigens. Not much is known about the prevalence of RHCE variants in the Chinese population. Individuals carrying a variant are at risk to develop alloantibodies in response to mismatched pregnancy or transfusion. In this study, phenotyping and genotyping of the RHCE allele in Chinese donors revealed a new clinically relevant mutation. STUDY DESIGN AND METHODS: Blood samples from 200 D- and 200 D+ Chinese donors were analyzed by the RH multiplex ligat

[CALR gene mutation detection and clinical observation of 150 essential thrombocythemia patients].

OBJECTIVE: To explore the prevalence of CARL gene mutations and the mutation types in patients with essential thrombocythemia (ET), and to compare the patients clinical characteristics of CALR mutation with JAK2 V617F, MPL W515K mutation patients and triple negative group. METHODS: The mutations of CALR gene at extron 9 and MPL W515K in 150 ET patients were detected by PCR amplification followed by direct sequencing of genomic DNA, the JAK2 V617F mutation by using allele specific PCR. RESULTS: (1)The CALR mutations were found in 38 patients (25.3%) of 150 ET patients. A total of 4 types of C

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

BACKGROUND: Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gene and it is difficult to identify BH4-responsive genotypes. We seek here to improve prediction of BH4-responsiveness through comparison of genotypes, BH4-loading test, predictions of responsiveness according to the literature and types and locations of mutations. METHODS: A total of 364 French patients among which, 9 % had mild hyperphenylalaninemia, 17.7 % mild phenylketo

The first report of Cryptosporidium bovis, C. ryanae and Giardia duodenalis sub-assemblage A-II in roe deer (Capreolus capreolus) in Spain.

The aim of the present study was to identify the species and/or genotypes of Cryptosporidium and Giardia duodenalis infecting roe deer (Capreolus capreolus) in Galicia (NW Spain). The presence of both enteropathogens was investigated in 212 faecal samples from roe deer shot in diverse game preserves in three different areas of Galicia. The samples were analyzed by immunofluorescence microscopy and PCR amplification, and fragments of the 18S SSU rRNA gene of Cryptosporidium and the β-giardin gene of G. duodenalis were sequenced. In total, 9 samples (4.2%) were positive for Cryptosporidium and 1

[Cloning and expression of metalloprotease gene from Schistosoma japonicum and its immunoprotective efficiency].

OBJECTIVE: To clone and express a metalloprotease gene of Schistosoma japonicum, purify the expressed protein, and investigate the induced immune response in mice and its localization in the parasite. METHODS: Specific primers were designed according to the EST sequence and used for amplification of the encoding sequence from the S. japonicum cDNA clone containing S. japonicum metalloprotease. The gene was subcloned into pET-28a plasmid and expressed, and the recombinant protein was purified with HisoTag affinity chromatography. Western blotting was used to analyze the immunogenicity. Eightee

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.

BACKGROUND: Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1 as a critical gene in the pathogenesis of the syndrome. The aim of study was to determine the incidence of the 22q11.2 deletion in Chinese patients with CTDs and the possible mechanism for pathogenesis of CTDs. METHODS: We enrolled 212 patients with CTDs and 139 unrelated healthy controls. Both karyotypic analysis and multiplex ligation-depe

Diagnostic implications of 16S ribosomal assay for gonorrhoea.

OBJECTIVES: In the absence of a single nucleic acid amplification test (NAAT) that is both highly specific and sensitive for gonorrhoea, many have put forward the 16S-based assay as a confirmatory test for Neisseria gonorrhoeae. This study was undertaken to evaluate the performance of PCR based on 16S ribosomal gene in comparison with a porA pseudogene-based assay. METHODS: The specificity of both the porA pseudogene-based PCR and 16S ribosomal gene PCR was checked against a panel of strains comprising of non N gonorrhoeae Neisseria sp (NgNS) and other gram-negative and gram-positive bacteria

Confirmation of two major polyarticular osteoarthritis (POA) phenotypes--differentiation on the basis of joint topography.

OBJECTIVES: Previous studies of patients with primary hand and ankle osteoarthritis (OA) have suggested the presence of two major polyarticular OA (POA) phenotypes, designated Type 1 and Type 2. The former, characterised by sentinel distal interphalangeal (IP) (DIP) or proximal IP (PIP) joint OA resembles generalised OA (GOA), whereas the latter characterised by sentinel metacarpophalangeal (MCP)2,3 OA, resembles the arthropathy associated with hereditary haemochromatosis (HH). The aim of this study was to validate these putative phenotypes and to further investigate their clinical and genetic

Occurrence and molecular characterization of Cryptosporidium and Giardia in captive wild ruminants in Belgium.

Both Cryptosporidium and Giardia are frequently found in the stool of domestic ruminants, especially young animals. Wild ruminants are also host to these protozoa, but the prevalence of these parasites in both free-ranging and captive nondomesticated ruminants needs to be further investigated. Moreover, the role of wild ruminants serving as reservoirs for these zoonotic parasites remains unclear. Therefore, a cross-sectional survey was conducted to estimate the occurrence of Cryptosporidium and Giardia in captive wild ruminants younger than 6 mo and to determine the potential of these animals

Association of endothelin-beta receptor (EDNRB) gene variants in anorectal malformations.

Animal models have demonstrated the role of genetic influences in anorectal malformations (ARM), although the pathogenetic mechanism remains uncertain. A body of collateral evidence points to possible connection with the endothelin-beta receptor (EDNRB) gene and the endothelin system. This study investigates the EDNRB gene in patients with ARM. Resected surgical specimens of terminal colonic tissue were obtained from 14 children (6 males and 8 females) undergoing surgery for ARM correction with ethical permission. DNA samples were screened for mutations in EDNRB. Polymerase chain reaction ampl

Intrauterine inflammation and the onset of peri-intraventricular hemorrhage in premature infants.

INTRODUCTION: Non-Hodgkin lymphoma (NHL) represents a diverse spectrum of lymphoid malignancies, which are defined by abnormal proliferation of lymphocytes and the absence of Reed-Sternberg cells. Both genetic and epigenetic mechanisms play critical roles in the etiology of this group of cancers. In this context, the present study aimed to assess the potential relationship between three specific single nucleotide polymorphisms (SNPs) in the MALAT1 gene namely rs619586 A>G, rs664589 C>G, and rs3200401 C>T and their association with susceptibility to NHL in a population sample from Zahedan, Iran

Conjunctival chlamydial 16S ribosomal RNA expression in trachoma: is chlamydial metabolic activity required for disease to develop?

BACKGROUND: Nucleic acid amplification testing frequently detects conjunctival Chlamydia trachomatis infection in subjects without clinical signs of trachoma. It is unclear whether such subjects are actually infected. We measured chlamydial 16S ribosomal RNA (rRNA) expression, a marker of chlamydial metabolic activity, in comparison with the quantitation of a chlamydial DNA target in subjects exposed to trachoma. METHODS: Subjects from 2 Gambian villages where trachoma was endemic were examined. Conjunctival samples were tested for the presence of C. trachomatis DNA using a quantitative real-

Sex identification of normal persons and sex reverse cases from bloodstains using FISH and PCR.

UNLABELLED: Sex identification of dry blood is of crucial importance in forensic medicine. SUBJECTS AND METHODS: Sixty normal (with matching phenotypic and genotypic sex) persons (36 males and 24 females), and 7 cases of sex reverse, i.e., persons with one genotypic sex and ambiguous or external genitalia of the opposite sex (3 phenotypic females with Swyer syndrome and the 46,XY karyotype, and 4 phenotypic Klinefelter-like males with the 46,XX karyotype) were subjected to sex identification by FISH and PCR using bloodstains. RESULTS: The FISH technique using an X/Y cocktail probe (DXZI & DY

Обнаружение герпеса с простейшим вирусом типа 1 в ревматической вальвулярной ткани.

РЕМАТИЧЕСКАЯ сердечная болезнь (RHD) является наиболее важным следствием ревматической лихорадки (RF): свидетельства того, что страптококковая инфекция является аэтологической, являются заметными, но иногда противоречивыми. Острая инфекция HSV-1 у мыши приводит к кардииту и вальвулиту, в то время как повторяющаяся инфекция приводит к провокационным грануломатным повреждениям, похожим на тела Асчоффа. Клетки, содержащие HSV-1, или инфицированные вирусом гигантские клетки, похожи на клетки Анитчкова или клетки Асчоффа, соответственно. Мы предположили, что инфекция HSV-1 может быть также включена

Совпадение в аннотации оригинала
BACKGROUND: Rheumatic heart disease (RHD) is the most important sequela of rheumatic fever (RF): evidence that streptococcal infection is ae … olyclonal antibodies. HSV-1 glycoprotein D gene sequences were amplified by nPCR, using beta-globin gene amplification in the same samples as internal control. Valvular tissue from 5 cases of sudden death and 3 cases died of neisseria meningitis without a history of valvular disease was used for comparison. HSV-1-infected lung tissue was used as positive control. R …

Molecular studies on Babesia, Theileria and Hepatozoon in southern Europe. Part I. Epizootiological aspects.

Molecular epizootiology of piroplasmids (Babesia spp., Theileria spp.) and Hepatozoon canis was studied in mammals from southern Europe (mainly from Spain, but also from Portugal and France). Partial amplification and sequencing of the 18s rRNA gene was used for molecular diagnosis. In some particular cases (B. ovis and B. bovis) the complete 18s rRNA gene was sequenced. Blood samples were taken from domestic animals showing clinical symptoms: 10 dogs, 10 horses, 10 cows, 9 sheep and 1 goat. In addition, DNA samples were isolated from blood of 12 healthy dogs and from spleen of 10 wild red fox

Organization of human papillomavirus productive cycle during neoplastic progression provides a basis for selection of diagnostic markers.

The productive cycle of human papillomaviruses (HPVs) can be divided into discrete phases. Cell proliferation and episomal maintenance in the lower epithelial layers are followed by genome amplification and the expression of capsid proteins. These events, which occur in all productive infections, can be distinguished by using antibodies to viral gene products or to surrogate markers of their expression. Here we have compared precancerous lesions caused by HPV type 16 (HPV16) with lesions caused by HPV types that are not generally associated with human cancer. These include HPV2 and HPV11, whic

[A new method of molecular testing in the differential diagnosis of hereditary hemochromatosis].

Hereditary hemochromatosis is an autosomal, recessive disorder of the iron metabolism. The hemochromatosis gene (HFE) was previously located on chromosome 6 and recently identified by positional cloning. A point mutation, C282Y, was found to be present in the HFE gene in homozygous form in 64 to 100% of patients with established hemochromatosis. The relationship of a second polymorphic variant of the HFE gene, H63D to the formation of iron overload is debated. Although hemochromatosis is one of the most common inherited disorders among Caucasians, in the absence of specific signs it is rarely

Distinct ongoing Ig heavy chain rearrangement processes in childhood B-precursor acute lymphoblastic leukemia.

Acute lymphoblastic leukemia (ALL) is thought to arise from the clonal expansion of a single transformed precursor cell. However, an oligoclonal Ig heavy chain (IgH) rearrangement pattern has been observed in 30% of ALL patients and was shown to be the result of ongoing rearrangement events. The extent and nature of these ongoing rearrangement processes in individual patients has so far remained obscure. We performed a detailed analysis of leukemic VHDJH rearrangements in three children with B-precursor ALL at diagnosis and one B-lymphoid blast crisis of a child with Ph+ chronic myeloid leukem

trans activation of an Epstein-Barr viral transcriptional enhancer by the Epstein-Barr viral nuclear antigen 1.

Two regions of the Epstein-Barr virus (EBV) genome together make up an element, oriP, which acts in cis to support plasmid replication in cells that express the EBV nuclear antigen 1 (EBNA-1). The two components of oriP are a region containing a 65-base-pair (bp) dyad symmetry and a region containing 20 copies of a 30-bp direct repeat. Here we show that the 30-bp family of repeats of oriP can function as a transcriptional enhancer that is activated in trans by the EBNA-1 gene product. In either EBV-genome-positive cells or in cells that express EBNA-1, the 30-bp family of repeats, when positio

The quadruplex TaqMan MGB fluorescent quantitative PCR method for simultaneous detection of feline panleukopenia virus, feline herpesvirus 1, feline calicivirus and feline infectious peritonitis virus.

BACKGROUND: Feline panleukopenia, feline calicivirus infection, feline viral rhinotracheitis, and feline infectious peritonitis are significant diseases that threaten feline health. The trend of mixed infections is increasing, and current diagnostic methods are limited in scope and unable to provide rapid, simultaneous detection of these diseases. METHODS: Four groups of primers and probes targeting the VP2 gene of Feline Panleukopenia virus (FPV), the TK gene of Feline Herpesvirus (FHV-1), the ORF2 gene of Feline Calicivirus (FCV), and the N gene of Feline Infectious Peritonitis Virus (FIPV)