bluuebunny/crossref_metadata_2025 huggingface dataset:
BIOCHEMISTRY OF RHESUS (Rh) BLOOD GROUP ANTIGENS
Authors: Gahmberg C. G.
Published: April 2007

Although the molecular nature of several blood group antigens was established in 1950–1980, the identification and characteristics of the Rh‐antigens long remained unsolved. In 1982 two groups were able to conclusively identify the Rh0(D) antigen as a cell surface polypeptide with an apparent molecular weight of about 30 000. This protein has now been relatively well characterized. It seems to lack carbohydrate, it is strongly bound to the membrane skeleton, and it is posttranslationally modified by fatty acid acylation. Its NH2‐terminal amino acid sequence has been determined. It is relatively hydrophobic, and its absence or decrease results in fragile erythrocytes or spherocytes. Its wide distribution in erythrocytes of various animals indicates that it plays an important physiological role.
GENETIC CONTROL OF THE FUCOSYLATION OF ABH PRECURSOR CHAINS. EVIDENCE FOR NEW EPISTATIC INTERACTIONS IN DIFFERENT CELLS AND TISSUES
Authors: Oriol R.
Published: April 2007

The general structure of the ABH antigens is analysed taking into account six possible precursor chains and two α‐2‐fucosyltransferases. The classical genetic model with one structural gene and two regulatory genes for the synthesis of the H antigen and the events which prompted the proposal of the new model with two structural genes for the synthesis of H determinants are discussed.

Three human α‐3‐fucosyltransferases with different acceptor specificity are presented. Myeloid type of α‐3‐fucosyltransferase, which transfers fucose on to H type 2, serum type of α‐3‐fucosyltransferase, which transfers fucose on to H type 2 and sialyl‐N‐acetyl‐lactosamine and Lewis or α‐3/4‐fucosyltransferase, which transfers fucose on to H type 1 and H type 2 and the corresponding sialylated structures.

The presence of different ABH and Lewis antigens in different tissues and the different epistatic interactions needed to account for their synthesis are analysed in terms of new epistatic interactions with either the known fucosyltransferases or with new fucosyltransferases.
FUNCTIONAL ACTIVITY OF HUMAN Rh MONOCLONAL ANTIBODIES (MABS)
Authors: Kumpel B. M.
Published: April 2007

Anti‐D and anti‐c monoclonal antibodies (MABS) were found to be heterogeneous with respect to their activity in five cell‐mediated functional assays. The two IgG3 MABS promoted greater rosette formation of red cells with monocytes than the IgG1 MABS. Discrepant results were obtained by different laboratories for the relative effectiveness of the MARS in promoting monocyte‐mediated red cell phagocytosis and lysis, which may have been due to variations in the assay methods used. The IgG3 anti‐D MAB promoted greater monocyte chemi‐luminescence than the IgG3 anti‐c MAB, but of these two MABs only the anti‐c mediated lysis of red cells in lymphocyte ADCC assays. The majority of the IgG1 anti‐r) MABS were ineffective at promoting red cell lysis by lymphocytes (K cells), but two were active even when diluted 1 in 300. There was no correlation of functional activity with red cell sensitization levels, IgG concentration or D epitope specificity of the MABS.
REPORT OF STUDIES ON MONOCLONAL ANTIBODIES (MABS) TO COMPLEMENT COMPONENTS
Authors: Voak D. , Nilsson U.
Published: April 2007

Twenty‐five monoclonal antibodies (MABS) to complement components were evaluated according to the ISBT/ICSH protocol by twelve laboratories. Seven detected some form of C3c, but one of them, 174, did not react with EiC3b, although it was positive with ‘EC3b’ (Fruitstone). 174 may detect some form of enzyme sensitive C3b antigen, but C3a was not evaluated (present on ‘EC3b’ Fruitstone). Twelve of the antibodies were anti‐C3d, one was an anti‐C3g and five were anti‐C4c.
INCREASED INTERLEUKIN‐2 RECEPTOR AFFINITY IN NORMAL HLA A1 B8 DR3 SUBJECTS
Authors: Pomier G. , Vindimian M. , Healy J. C. , Le Petit J. C.
Published: April 2007

Twenty‐two subjects (11 HLA A1 B8 DR3, 11 non‐A1 B8 DR3) were tested for the capacity of their lymphocytes to express Tac molecules and interleukin‐2 (IL‐2) receptors (quantified using radiolabelled IL‐2) after mitogen stimulation. Ten of these subjects (five Al B8 DR3 and five non‐A1 B8 DR3) were also tested for the ability of their lymphocytes to proliferate under IL‐2 stimulation. Al B8 DR3 subjects express a normal number of high‐affinity IL‐2 receptor sites, but the affinity of these receptors sites is significantly increased. Unexpectedly, Al B8 DR3 lymphoblasts show a lower response to IL‐2 than non‐Al B8 DR3 for high doses of recombinant IL‐2.
DNA‐RFLP METHODS and INTERPRETATION SCHEME FOR HLA‐DR and DQ TYPING
Authors: Bidwell J.L. , Bignon J.D.
Published: April 2007

DNA‐restriction fragment length polymorphism (RFLP) typing is a well established and standard technique for identification of HLA‐DR and DQ allotypes. We present a detailed review of methods for RFLP analysis and a scheme for interpretation of results. This scheme permits the routine identification of HLA‐DR and DO allotypes using the restriction endonucleases Taql and either HindIII or Mspl.
OPTIMIZING PCR CONDITIONS FOR HLA CLASS II SSO TYPING
Authors: Ivinson A. J.
Published: April 2007

The polymerase chain reaction (PCR) has made the technique of sequence‐specific oligoncucleotide (SSO) typing fast, accurate and very sensitive. These combined techniques are an ideal tool for analysing the complex patterns of polymorphism seen throughout the HLA complex. The success of the technique relies heavily on accurate and specific amplification of the DNA under study. This paper considers the principles behind the PCR amplification technique and discusses the factors which lead to optimal amplification. Primer design is discussed and a variety of sources of target DNA considered. Precautions designed to prevent contamination are discussed. Reaction components are considered both in isolation and as part of the complete reaction. Finally, a complete PCR protocol is suggested. The paper is illustrated with examples of HLA class II amplification.
HLA‐DR/Dw MATCHING BY PCR FINGERPRINTING: THE ORIGIN OF PCR FINGERPRINTS AND FURTHER APPLICATIONS
Authors: Wood N.A.P. , Clay T.M. , Bidwell J.L.
Published: April 2007

Polymerase chain reaction (PCR) fingerprinting, a new method for the rapid matching of HLA‐Dr/Dw allotypes, involves the visual comparison of polymorphic HLA‐DRB gene second exon PCR products, resolved in non‐denaturing polyacrylamide gels (Bidwell & Hui, 1990). We show here that the satellite DNA bands within PCR fingerprints originate by heteroduplex formation between heterologous DNAs co‐amplified by a common PCR primer set. We also present two further applications of the technique which permit discrimination between unrelated HLA‐DR/Dw allotypes with similar PCR fingerprints.
A POTENTIAL WEAK ALLELIC DIFFERENCE IN MALE‐SPECIFIC ANTIGEN BETWEEN TWO INBRED STRAINS OF MICE
Authors: Dresser D. W.
Published: April 2007

Differences were detected between male‐specific antigen(s) from BALB/c and C57BL/10 mice. Reciprocal crosses between these strains were analysed by means of a popliteal lymph node assay enumerating cells secreting IgM and IgG in a T‐dependent bystander B‐cell response. The responses, while being indirect, weak and variable, suggested that there are differences in ‘immunogenicity’ coded by Y‐linked (male‐specific) genes. This conclusion was strengthened by the results of experiments carried out in Y‐backcross mice, where spleen cells from male C57BL mice with a BALB/c‐Y (B10.C‐YC) stimulated low popliteal lymph node responses in female littermates in comparison with C57BL mice with their own Y‐chromosome. In contradistinction, male spleen cells from a BALB/c with a C57B1/10‐Y chromosome (C.B10‐YB), injected into a hind footpad of a female littermate, induced a relatively higher popliteal lymph node response.
APPLICATION OF POLYMERASE CHAIN REACTION (PCR) TO HLA‐C LOCUS TYPING
Authors: Sakkas L. I. , Vaughan R. W. , Panayi G. S. , Welsh K. I.
Published: April 2007

Polymerase chain reaction/oligonucleotide typing was used to identify HLA‐Cw*0601 (Cw6) in patients with psoriasis and psoriatic arthritis. The assignment of HLA‐Cw*0601 was established by the concordant presence of codons for alanine (position 73), lysine (position 80) and tryptophan (position 97). The frequencies of all three codons were increased in the patient groups.
HLA DPB1 ALLELES AND SUSCEPTIBILITY TO RHEUMATOID ARTHRITIS
Authors: Sage D.A. , Evans P.R. , Cawley M.I.D. , Smith J.L. , Howell W.M.
Published: April 2007

HLA‐DPB1 genotypic and phenotypic frequencies were investigated in a series of 35 adult rheumatoid arthritis (RA) patients and 42 controls. No significant associations between DPB1 alleles and susceptibility to RA were demonstrated, although some non‐significant differences in DPB1*0301 and 0401 allele frequencies between patients and controls were observed.
EXPRESSION OF A MHC NON‐CLASSICAL CLASS I GENE, 04, IS SIMILAR TO A CLASSICAL CLASS I GENE, Dp
Authors: Badley J.E. , Frelinger J.A.
Published: April 2007

We have investigated the effects of the cell cycle on expression of Q4 mRNA. Q4, the gene encoding the Qb‐1 antigen, is transcribed in a wide variety of tissues, unlike many other non‐classical class I genes. We have compared the pattern of Q4 transcription in the cell cycle to classical class I, β‐2‐microglobulin and actin. We found that the pattern of Q4 RNA levels resembles that of the classical class I genes, consistent with the similarity of the 5′sequences of Q4 and K/D. Thus, Q4 mRNA accumulates during the cell cycle along with the total RNA, but does not show specific transcriptional enhancement. This is consistent with a function for Q4 similar to the classical K/D gene products.
NON‐RADIOACTIVE OLIGOTYPING FOR HLA‐DR1‐DRw10 USING POLYMERASE CHAIN REACTION, DIGOXIGENIN‐LABELLED OLIGONUCLEOTIDES AND CHEMILUMINESCENCE DETECTION
Authors: Nevinny‐Stickel C. , Hinzpeter M. , Andreas A. , Albert E.D.
Published: April 2007

We describe a rapid non‐radioactive DNA typing of the serological types DR1‐DRw10 using polymerase chain reaction (PCR)‐amplified DNA and 15 sequence‐specific oligonucleotides (SSO) which are labelled enzymatically at their 3’end with one digoxigenin (DIG). The hybridized SSOs were detected using anti‐DIG alkaline phosphatase and Fab fragments and visualization was obtained with the chemilumine‐scent substate 3‐(2‘‐spiroadamantan)‐4‐(3′‐phosphoryloxy)‐phenyl‐1,2‐dioxetan (AMPPD). The results were identical with those of the previously used 5‐bromo‐4‐chloro‐3‐indolyl‐phosphate (BCIP)/4‐nitrobluetetrazolium chloride (NBT) system. The use of AMPPD is more rapid and allows the repeated rehybridization of the membrane‐bound DNA.
EXPRESSION OF RABBIT Ig ALLOTYPES IN LITTERS OF MOTHERS IMMUNIZED AGAINST A PATERNAL ALLOTYPE
Authors: Meier D. , Kelus A. S.
Published: April 2007

Sera of successive littermates of mothers producing anti‐allotype antibodies (Ab) were analysed for altered a locus or b locus allotype expression. We measured the allotype concentration in sera of 66 individuals (17 litters) of seven mothers producing anti‐al Ab, and 63 individuals (15 litters) of seven mothers producing anti‐b4 Ab, in an enzyme‐linked immunosorbent assay (ELISA). We confirmed that the ability to induce allotype suppression in utero increases with the number of antigen boosts applied to the mother, even though the Ab titre in the maternal serum may be decreased. All individuals of a litter expressed the allotype in about equal concentration. This contrasts the results we obtained when newborn rabbits were injected with anti‐allotype antiserum. Injection of the same amount of anti‐allotype antiserum into nine offspring of two mothers caused allotype suppression in only five individuals, showing no effect in the others. No suppression was observed when IgG‐depleted antiserum was injected into newborn rabbits. As expected, maternal antibodies to a paternal allotype do not affect the Mendelian distribution of the progeny phenotypes.
IMBALANCE OF MHC CLASS I EXPRESSION IN 3LL TUMOUR CELLS
Authors: Benihoud Karim , Lecerf Jean‐Michel , BoBé Pierre , Kiger Nicole
Published: April 2007

Cell lines and a clone established from the C57BL/6 (H‐2b) Lewis lung (3LL) tumour were previously characterized with respect to tumour growth and metastatic spread in vivo, and to the expression of a 3LL tumour‐specific antigen (3LL TA) using a monoclonal antibody raised in syngeneic mice immunized with 3LL cells. No correlation was observed between the presence of 3LL TA and the prevention of metastatic spread which suggests that the immune recognition of this tumour antigen requires the presence of a self H‐2 molecule absent from these tumour cells. Indeed, radioimmunoassay (RIA) and cytofluorometric analysis using specific monoclonal antibodies have shown that the H‐2Kb molecule was not expressed at the cell surface of all 3LL cell lines and clones, while the H‐2Db molecule was present at normal levels. This defect, which was not the consequence of a lack Of (32m expression, was accompanied by an absence or a marked reduction of the H‐2K mRNA level (which has been reversed in the M4 cell line by in vitro gamma interferon treatment), while the H‐2D class I gene was normally transcribed. Another defective transcription was also observed for a gene in the Tla region (gene 37). This low‘37’phenotype was corrected by in vitro treatment of the M4 cell line with gamma interferon, which indicates that this class I gene of the Qa/Tla region has an interferon response sequence in the promoter.
H‐2 INFLUENCE ON THE PRODUCTION OF REAL BUT NOT OF APPARENT H‐2‐SPECIFIC ANTIBODIES INDUCED BY THE ASSOCIATION OF SYNGENEIC CLASS I HEAVY CHAINS WITH BOVINE β2‐MICROGLOBULIN
Authors: Rocca A. , Samaan A. , Michel C. , Besluau D. , Degos L. , Pla M.
Published: April 2007

Immunogenic properties of class I molecules resulting from the association of mouse class I heavy chains with a xenogeneic β2‐microglobulin (β2‐m) were investigated by studying the antibody response of mice of injections to syngeneic Con A lymphoblasts, induced in conditions allowing the replacement of endogenous β2‐m by exogenously added bovine (β2‐m provided by fetal calf serum (FCS‐Con A blasts). Lymphocyto‐toxic antibodies were regularly produced and according to their specificities they could be divided into two types: antibodies whose reactivity was (1) dependent on and (2) independent of the presence of bovine β2‐m on target cells. Although both types displayed an H‐2 dependent polymorphic reaction pattern, only antibodies recognizing class I molecules without bovine β2‐m can be considered as real H‐2‐specific antibodies. The others are only apparent H‐2‐specific antibodies: their polymorphic reaction pattern is dependent both on the presence of bovine β2‐m on the surface of target cells and on their H‐2 haplotype. A comparison of the antibody response of mice with various H‐2 haplotypes to injections of syngeneic FCS‐Con A blasts showed no significant difference in the induction of bovine β2‐m‐dependent antibodies (apparent H‐2‐specific) among the mice from all strains tested (H‐2b, H‐2p, H‐2q, and H‐2S). Unexpectedly, for most strains more than 60% of the immunized mice produced also β2‐m‐independent antibodies (real H‐2‐specific), with the exception of H‐2q mice, in which only 30% of sera were positive. The real H‐2‐specific antibody response is of two types: some mice (H‐2P and H‐2S) produced antibodies only reactive with allogeneic target cells whereas others (H‐2b and H‐2q) produced in addition antibodies that were reactive with syngeneic cells. Thus H‐2 appears to play an important role in the induction and specificity of the lymphocytotoxic H‐2‐specific antibodies induced upon immunization with cells expressing syngeneic class I heavy chains associated with bovine β2‐m.
AN ADDITIONAL FAMILY OF VH SEQUENCES IN THE CHANNEL CATFISH
Authors: War G. W. , Middleton D. L. , Miller N. W. , Clem L. W. , Wilson M. R.
Published: April 2007

A heavy chain variable region cDNA sequence of the channel catfish (Ictalurus punctatus) prototypical for a new VH family (approximately 20 or more members) is presented. The nucleotide and inferred amino acid sequences differ by 32–52% and 41–68%, respectively, from those for the already described catfish VH families.
HETEROGENEOUS EXPRESSION OF BLOOD GROUP A‐DETERMINANT IN A HUMAN GASTRIC CANCER CELL LINE DERIVED FROM A BLOOD GROUP A INDIVIDUAL
Authors: Kominato Y. , Fujikura T. , Takizawa H. , Hayashi K. , Fujimaki M. , Kishi K. , Suzuki T.
Published: April 2007

The human gastric cancer cell line MKN 45 was derived from the tumour of a blood group A individual, and was known to express large quantities of blood group A‐antigen. Using immunofluorescence we found the MKN 45 cells, donated from the Japanese Cancer Research Resources Bank, consisted of A‐antigen positive cells (18%) and A‐antigen negative cells (82%). After limiting dilution, wild type and mutant cells were cloned with regard to the expression of a cell surface A‐antigen. ELISA was used to detect A‐antigen in the cell extract of the wild type cells, but none was evident in those of the mutant cells. However, blood group A‐gene‐specified transferase activity of the mutant cells was comparable to that of the wild type cells.
IN UTERO SUPPRESSION OF K2 ISOTYPE IN HOMOZYGOUS BAS/BAS RABBITS THROUGH EMBRYO TRANSFER
Authors: Meier D. , Kelus A. S.
Published: April 2007

Allotypes of rabbit Ig provide a useful tool for the study of quantitative expression of alternative allelic forms. In the rabbit, maternal Ig is transmitted to the foetus and protects the immunologically immature newborn during several of the first weeks of life. Induced maternal antibodies directed towards a paternally inherited allotype of the offspring can influence the expression of that allotype drastically. Normal Ig level in heterozygous allotype suppressed animals is provided by increased expression of the alternative allele. On the other hand, allotype suppression in homozygous animals leads to increased expression of non‐allelic alternative gene products. We quantitatively analysed the expression of bas, a marker on the k2 light chain isotype of the mutant strain Basilea, in homozygous bas/bas rabbits which had been fostered in utero of b4/b6 mothers producing anti‐bas. All of the offspring studied expressed the k2 isotype at a very low level at two months of age, and, in some individuals, bas was hardly expressed after 6 to 12 months. A suppressed rabbit, which was immunized to produce auto‐antibodies against bas, continued to do so for at least 2.5 years. The long duration of homozygous bas suppression contrasts with homozygous suppression of other allotypes (CLk1 and VHa) which generally lasts for a much shorter period.
IMMUNOGLOBULIN AND HLA‐DP GENES CONTRIBUTE TO THE SUSCEPTIBILITY TO JUVENILE DERMATITIS HERPETIFORMIS
Authors: Mazzola G. , Berrino M. , Bersanti M. , D'Alfonso S. , Cappello N. , Bottaro A. , Curtoni E. S. , Fusco P. , Vallati M. , Bundino S. , Barbera C. , Amoroso A.
Published: April 2007

HLA‐DQ genes and gluten diet are the main factors involved in the pathogenesis of Dermatitis Herpetiformis (DH), as well as Coeliac Disease (CD). However other genetic factors are probably relevant, since about 10% of the patients with DH and CD lack the DQA1*0501/B1*0201 heterodimer while the majority of individuals presenting this genotype and also being exposed to gluten diets did not suffer from these diseases. To evaluate the role of other genes, 36 Northern Italian children with DH were analysed for DNA polymorphisms at HLA‐DP and immunoglobulin (Ig) heavy chain loci. DPA1*0201 and DPB1*1301 frequencies were higher in patients than in controls (Pc= 0.0357 and Pc= 0.0273). With respect to immunoglobulin heavy chain restriction fragment length polymorphisms (RFLP), the 4.6kb Sad RFLP at the switch α2 gene was more frequent in patients (0.13) than in controls (0.019; Pc= 0.036). Moreover, rare alleles or duplications in the switch regions occurred more frequently in the patients than in the controls. These results support the hypothesis of a multifactorial inheritance of DH, the HLA and Ig constant heavy chain genes being some of the loci contributing to the susceptibility. In accordance with previous CD studies, these data also confirm that DP subregion is probably involved in the pathogenesis of DH.
DETAILED MAPPING OF THE Rfv‐1 GENE THAT INFLUENCES SPONTANEOUS RECOVERY FROM FRIEND RETROVIRUS‐INDUCED LEUKAEMIA
Authors: Miyazawa M. , Nishio J. , Wehrly K. , Jay G. , Melvold R. W. , Chesebro B.
Published: April 2007

Using H‐2 recombinant and mutant mice, the Rfv‐1 gene influencing spontaneous recovery from Friend retrovirus (FV)‐induced leukaemia was mapped in the D locus. Two D b alleles were required for full recovery, and a single Dd transgene did not convey increased susceptibility to FV in the presence of homozygous Db/b genotype. The results suggest that an increase in the expression of Db may lead to more effective stimulation of FV‐specific CTL.
A LIKELIHOOD APPROACH TO HLA SEROLOGY
Authors: Clayton J. F. , Lonjou C. , Bourret P. , Cambon‐Thomsen A. , Ohayon E. , Hors J. , Albert E. D.
Published: April 2007

A likelihood approach to HLA serology has been developed in which the aim is not to define a recognition set for a serum but to describe the serum's ability to react with each and every antigen in the test cells, this ability being quantified in terms of the probability of a positive reaction. For a given set of probabilities, one for each antigen, it is possible to derive the probability of the observed set of reactions (the likelihood of the set of probabilities). The maximum possible value of the likelihood for any possible combination of the probability set can then be sought, but this requires a maximization of likelihood with respect to 60–100 independent parameters. Theoretical considerations of the shape of the likelihood surface prove that, in this particular case, this is a feasible proposition.

This approach allows the recognition of three groups of antigens: those for which there is considerable evidence of a specificity, those for which there is either no specificity or a very weak specificity, and those for which there is insufficient evidence on which to base a conclusion. The existence of a specificity can be tested using a log likelihood ratio as a statistic, but the usual assumption of a χ2 distribution of this statistic cannot automatically be made in this situation. Therefore, the distribution is estimated by simulation.

A serologist using this approach would receive considerably more information as to the serum's reaction patterns and valid statistics for the existence, or not, of a specificity.
MAJOR HISTOCOMPATIBILITY COMPLEX LOCATED COMPLEMENT C4 AND STEROID 21‐HYDROXYLASE GENE REARRANGEMENTS IN COUPLES WITH RECURRENT SPONTANEOUS ABORTIONS
Authors: Laitinen T. , Lokki M.‐L. , Partanen J. , Tulppala M. , Ylikorkala O. , Koskimies S.
Published: April 2007

Major Histocompatibility Complex (MHC) class III located complement C4 and steroid 21‐hydroxylase (21OH) genes, which form various deletion and duplication units, were studied by Taq I Restriction Fragment Length Polymorphism (RFLP) in 58 Finnish couples who suffered recurrent spontaneous abortions (RSA). The gene rearrangements found in the RSA couples did not differ from those in the controls.
STUDIES ON THE STRUCTURE OF COMPLEMENT C3 AND THE STABILITY OF C3 DERIVED PHAGOCYTIC LIGANDS C3b/iC3b IN SJL/J AND BALB/c MICE
Authors: Lynch D.M. , Kay P.H. , Papadimitriou J.M. , Grounds M. D.
Published: April 2007

Female SJL/J mice are more susceptible to development of experimental autoimmune myositis than most other mouse strains. Since complement has been implicated in the pathogenesis of inflammatory muscle disease in humans, quantitative and qualitative studies of complement C3 were undertaken in SJL/J and BALB/c mice to determine whether complement may influence disease susceptibility in SJL/J mice. In accordance with previous studies, mature male and female BALB/c mice were shown to have similar serum C3 concentrations. However, differences were found between mature male and female SJL/J mice. Male SJL/J mice have significantly higher serum C3 concentrations than SJL/J females and both sexes of BALB/c mice suggesting that serum C3 concentration may be variably influenced by sex in some mouse strains. Qualitatively, SJL/J mice were shown to have a different allotypic form of C3 (C3F) compared to the common electrophoretically slow form (C3S) found in BALB/c mice and most other mouse strains. Furthermore, studies on the decay rate of C3 revealed that C3b/iC3b fragments are converted to C3c/d at a faster rate in sera from female SJL/J mice compared to female BALB/c mice. Because removal and solubility of immune complexes is influenced by complement C3, it is possible that the more rapid decay of the phagocytic ligands C3b/iC3b may account for the increased susceptibility to development of autoimmune disease in female SJL/J mice.
HLA CLASS I NUCLEOTIDE SEQUENCES, 1992
Authors: Zemmour J. , Parham P.
Published: April 2007

The HLA Class I sequences included in this compilation are taken from publications listed in the papers: Nomenclature for factors of the HLA system, 1991 (Bodmer et al., 1992), Nomenclature for factors of the HLA system, 1990 (Bodmer et al., 1991) and factors of the HLA system, 1989 (Bodmer et al., 1990). Due to the increased number of sequences we have only included sequences for exons 2, 3, and 4 in this compilation. Where discrepancies have arisen between reported sequences, the original authors have been contacted where possible, and necessary amendments to published sequences have been incorporated into this alignment. Future sequencing may identify errors in this list and we would welcome any evidence that helps to maintain the accuracy of this compilation. In the sequence alignments, identity between nucleotides is indicated by a hyphen (‐). An unavailable sequence is indicated by a period (.). Gaps in the sequence are inserted to maintain the alignment between different alleles showing variation in amino acid number.
GENETIC POLYMORPHISM OF HUMAN PLASMINOGEN (PLG) IN A CHINESE POPULATION
Authors: YIPING H. , QING G. , MEIYUN W.
Published: April 2007

The distribution of phenotypes and gene frequencies of the plasminogen were studied in 203 blood donors of the Han population, Chengdu, China using isoelectric focusing followed by immunofixation. The results were as follows: PLGA=92.12%, PLGAM5=4.39%, PLGAB=1.97%, PLGAB2=0.98%. Their gene frequencies were: PLG*A=0.9606, PLG*M5=0.0246, PLG*B=0.0099, PLG*B2=0.0049. This study implied that PLG*M5 might be the specific genetic marker of the Mongoloids.
T CELL REPERTOIRE SELECTION BY MOUSE MAMMARY TUMOUR VIRUSES
Authors: Simpson E.
Published: April 2007

Mouse mammary tumour viruses (Mtv) are B‐type retroviruses. These can be exogenous, transmitted via maternal milk, or endogenous, as proviral integrations into the mouse genome, transmitted vertically in a Mendelian fashion. A number of different sites of integration of endogenous Mtvs have been reported in various inbred mouse strains. An open reading frame (ORF), within the long terminal repeat (LTR) of Mtv, encodes a type 2 integral membrane glycoprotein. The ORF products are expressed in association with MHC class II molecules at the cell surface and have an affinity for certain T cell receptor (TCR) Vβ chains such that CD4+8+ TCR+ double positive thymocytes expressing these Vβ chains undergo programmed cell death in mice carrying the appropriate endogenous or exogenous Mtvs. This constitutes a measurable part of negative repertoire selection of the T cell repertoire. Some positive selection of the T cell repertoire also appears to be TCR Vβ‐specific, although the involvement of polymorphic ligands other than MHC molecules is not apparent. This minireview summarizes the published work on the TCR Vβ specificity and chromosomal localization of the various mouse mammary tumour proviral integrations leading to negative selection, and discusses the nature of TCR Vβ‐specific positive selection.
HLA CLASS I NON‐CODING NUCLEOTIDE SEQUENCES, 1992
Authors: Summers C.W. , Hampson V.J. , Taylor G.M.
Published: April 2007

We present a compilation of the nucleotide sequences of the non‐coding regions of the human HLA class I genes which complements previously published information on exon sequences. The listing includes the 5’and 3’untranslated (UT) regions, and introns 1–7. The HLA class I loci and their alleles from which non‐coding sequences were derived are listed in Table 1, together with source references. Where possible, locus and allele designations follow the Nomenclature for factors of the HLA system 1991(Bodmer et al.,1992).

In aligning sequences, nucleotides which are conserved between all class I genes are specified only by the consensus sequence, and are indicated by a hyphen (‐). To maintain the alignment between different alleles, an asterisk (*) is inserted where there is a gap in the sequence. An unavailable sequence is indicated by a period (.). Regions of sequence too diverse to be accurately compared are represented by an exclamation mark (!). Sequence motifs previously classified as having an important role in HLA class I regulation or processing, such as enhancer sequences, are identified at the bottom of the sequence comparison.

It is not our intention in this paper to present an analysis of the many features revealed by this compilation. However, we hope that the information will provide important reference material for studies of HLA class I mRNA processing (Cianetti et al., 1989), promoter regulation (David‐Watine et al., 1990) and in the design of allele, locus or region specific PCR primers (Summers et al., 1991).

We hope to update this compilation in due course, and we would welcome sequence information not included in this publication, as well as comments and corrections that help to maintain the accuracy of the information.
SEROLOGICAL AND BIOCHEMICAL DETECTION OF B‐CELL ANTIGENS IN GOATS
Authors: Ruff G. , Joosten I. , Howald M. , Davis W. C. , Lazary S.
Published: April 2007

The production of B‐cell specific alloantisera by lymphocyte transfusion between class I matched, MLR positive goats is described. Furthermore, the usefulness of preceding IEF typing is demonstrated in the selection of immunization pairs. After suitable absorptions and cluster analysis the detected B‐cell specific antigens were designated BeDl‐BeD6. The specificity BeD3 could also be detected by two class II‐specific murine anti‐H2 monoclonal antibodies. IEF class II typing of 34 animals gave concordant results between the two techniques. One additional allelic variant could be detected by IEF typing. The detected products segregated in close linkage to the earlier described caprine class I antigens. One recombinant has been found in 78 offspring. The reactivity of cells in mixed lymphocyte cultures (MLC) was correlated with the compatibility of the test cells for their B‐cell specific antigens. Three of the B‐cell specific sera were characterized by immunoprecipitation. The precipitated antigens corresponded in molecular weight to MHC class II products as described in other species indicating that the here described caprine products are of class II nature.
A 2‐DAY MLR PROCEDURE FOR MARROW DONOR SELECTION FOR ALLOGENEIC BONE MARROW TRANSPLANTATION
Authors: Bishara A. , Kedar E. , Leshem B. , Slavin S. , Cohen I. , Brautbar C.
Published: April 2007

In this report we demonstrate the clinical application of a two‐day mixed leukocyte reaction (MLR) test for bone marrow (BM) donor selection in three patients of aplastic anaemia who needed an urgent bone marrow transplantation (BMT).
Revised nomenclature for human complement component C4*2
Authors:   WHO‐IUIS Nomenclature Sub‐Committee
Published: April 2007

This note describes the recommended designations for allotypes of human complement component C4, which were approved by the Nomenclature Committee of the International Union of Immunological Societies (IUIS).
POLYMORPHISM OF THE 5’ FLANKING REGION OF THE HLA‐DQA1 GENE IN COELIAC DISEASE
Authors: de la Paz Bettinotti M. , Kolek A. , Brünnler G. , Haas P. , Paul C. , Hochberger M. , Bartova A. , Kimura A. , Sasazuki T. , Albert E. D.
Published: April 2007

Coeliac disease (CD) is associated with particular HLA genotypes. The susceptibility gene (or genes) has been mapped to the class II region, most probably to the DQ loci. Polymorphism of the upstream promoter region of the DQA1 gene (QAP) has been recently reported. At least ten variants or QAP alleles have been found, some of which are present in the as‐acting regulatory sequences. Allelic differences in DQ molecule expression may play a role in susceptibility to CD. We investigated the QAP polymorphism in 102 CD patients and 142 unrelated healthy controls of Czech origin using polymerase chain reaction amplification (PCR) of genomic DNA and oligonucleotide probes. We found a significant frequency increase of the alleles QAP 4.1 (RR = 10.3, p.c. = 10‐6) and QAP 2.1 (RR = 2.4, p.c. = 0.017) in patients over controls. An increased susceptibility is provided by the presence of both alleles, as is shown by the higher proportion of QAP 4.1, 2.1 heterozygotes among patients than expected from the Hardy‐Weinberg equilibrium and by the comparison of the odds ratios for these alleles. There is a strong linkage disequilibrium between the QAP alleles and the DQA1, DQB1, and DRB1 loci. Two haplotypes carrying the QAP alleles whose frequency is increased are predominant in this group of CD patients: DQB1* 0201, DQA1* 0501, QAP 4.1, DRB1* 0301 and DQB1* 0201, DQA1* 0201, QAP 2.1, DRB1* 0701. Thus, the QAP variants are increased as part of these haplotypes and we cannot discriminate if they are responsible for the primary association.
HLA CLASS II TYPING IN A MICROTITRE PLATE FORMATE USING DIGOXIGENIN‐LABELLED AMPLIFIED DNA AND BIOTIN‐LABELLED OLIGONUCLEOTIDE PROBES
Authors: Nevinny‐Stickel C. , Albert E. D.
Published: April 2007

We describe a new, non‐radioactive microtitre plate assay for the analysis of genetic variations at the DNA level. The new method combines hybridization of oligonucleotides with PCR amplified DNA in liquid phase with detection in solid phase using an elisa‐reader. Genomic DNA is labelled with digoxigenin during PCR using a nucleotide mix containing DIG‐11‐2′‐deoxy‐uridine‐5′‐triphosphate (DIG‐11‐dUTP) DIG labelled, amplified genomic DNA is hybridized in solution with an oligon de which is labelled with one biotin at its 3′‐end, using biotin‐16,2′,3′‐dideoxy ine‐5′‐triphosphate (BIO‐16‐ddUTP) and DNA deoxynucleotidylexo‐transferase (TdT). The hybridized complex is immobilized in a streptavidin (SA) coated microtitre plate via the biotin and detection of digoxigenin is performed using anti‐digoxigenin horseradish peroxidase, fab fragments (anti‐DIG‐POD), and the colorimetric substrate 2,2′‐Azino‐di‐(3‐ethylbenzthiazolinsulfonat[6]) (ABTS®). The resulting absorbtion of the assay is analysed in a microtitre plate reader. This method results in highly specific and sensitive hybridization signals and with the 15 oligonucleotides chosen, allows the typing of DR1‐DR10.
HLA DR AND DQ RFLP ANALYSIS IN CROHN'S DISEASE
Authors: Wassmuth R. , Eastman S. , Kockum I. , Holmberg E. , Starck M. , Lindhagen T. , Kalden J. R. , Lernmark Å. , Sundkvist G. , Lindgren S.
Published: April 2007

A study of 109 Swedish patients and 85 healthy Swedish controls with Crohn's disease (CD) by HLA class II RFLP genotyping was carried out. There was no significant association for any single DR or DQ specificity or phenotypic combination of DR and/or DO specificities among our study group of Caucasian extraction.
HLA DOA‐DQB HAPLOTYPES IN A SWEDISH POPULATION
Authors: & A. Langö , Lindblom B.
Published: April 2007

Samples from 94 Swedish blood donors were analysed for HLA‐DQA1 and ‐DQB1 alleles by the PCR‐SSO technique used in the XIth Histocompatibility Workshop. Seven DQA1 and 12 DQB1 alleles were identified and a total of 17 haplotype combinations were found deduced from the most probable allele combinations. Frequencies calculated from these haplotypes were compared to those calculated from the phenotypes according to Mattiuz et al. (1970). There was no significant difference in the frequencies of the 17 haplotype combinations deduced. Eight haplotype combinations had exactly the same frequencies and four had approximately the same frequencies independent of the calculation method used. The DQA1*0301‐DQB 1*0302, DQA1*0501‐DQB1*0201, DQA1* 0101‐DQB1* 0501, and DQA1*0102‐DQB1*0602 were the most frequent haplotypes with frequencies over 0.130.
DISCRIMINATION OF HUMAN HLA‐DRB1 ALLELES BY PCR‐SSCP (SINGLE‐STRAND CONFORMATION POLYMORPHISM) METHOD
Authors: Bannai M. , Tokunaga K. , Lin L. , Kuwata S. , Mazda T. , Amaki I. , Fujisawa K. , Juji T.
Published: April 2007

A single‐strand conformation polymorphism (PCR‐SSCP) method has been adopted for discrimination of human HLA‐DRB1 alleles. This method enabled the detection of DN A polymorphisms including point mutations at a variety of positions in the DN A fragments of the HLA‐DRB1 gene. A total of 27 HLA‐DRB1 alleles from 172 healthy donors were analysed using a combination of PCR‐SSCP with group‐specific amplifications. Application of a small amount of amplified and denatured DNA to non‐denaturing electrophoresis followed by silver staining resulted in distinct banding patterns. Samples possessing a single allele in each amplification group showed two‐band patterns which correspond to the sense and antisense strands, while heterozygotes in the same group or a mixture of two single‐type samples showed four‐band patterns. All of the analysed alleles were discriminated in each DRB1 group. The method described here may be somewhat complicated for routine typing of HLA‐DRB1 alleles. However, it is useful in the screening of ‘new’ alleles as well as the donor‐recipient molecular matching of HLA class II genes for various purposes, e.g. selection of bone marrow transplant donors.
RECOMBINATION FRACTIONS IN THE HLA SYSTEM BASED ON THE DATA SET ‘PROVINCES FRANÇAISES’: INDICATIONS OF HAPLOTYPE‐SPECIFIC RECOMBINATION RATES
Authors: Thomsen M. , Neugebauer M. , Arnaud J. , Borot N. , Sevin A. , Baur M. , Cambon‐Thomsen A.
Published: April 2007

In the large genetic survey ‘Provinces Françaises’ the recombination fractions in the HLA system have been estimated by a family analysis programme (FAP). A total of 1332 families were analysed and in general the findings were in agreement with recombination fractions reported previously. The maternal recombination rates were on average 1.8 times higher than the corresponding ones for males. The comparison of the recombination fractions with the corresponding physical distances suggests the existence of hot spots of recombination. The analysis did not show deviations from expected values for HLA‐A and B alleles on HLA‐A/B recombinant haplotypes. However, analysis of HLA‐B/DR recombinant haplotypes showed a skewed distribution of B and DR alleles. The significance of the findings is difficult to evaluate as all results are estimated numbers and frequencies but a manual analysis of the recombinant families confirmed the observations. HLA‐B/DR recombinant haplotypes carried often HLA‐DR3 and DR11 whereas DR2 and DR7 were more rarely present on recombinant haplotypes. DR4 had an increased incidence on BF/DR recombinant haplotypes but not on A/B or B/BF recombinant haplotypes. Some of the haplotypes with the strongest linkage disequilibria as A1, B8, DR3 and A3, B7, DR2 seem to be less frequently involved in recombinations than other haplotypes. Variations of recombination rates depending on certain alleles or haplotypes might partially explain the conservation of some haplotypes or part of haplotypes in Caucasoids.
HLA‐DRB AND ‐DBQ TYPING BY PCR AMPLIFICATION USING SEQUENCE‐SPECIFIC PRIMERS (PCR‐SSP): ASSESSMENT AFTER 1 YEAR OF ROUTINE USE BY THREE LABORATORIES
Authors: Mercier B. , Daccak R. Al , Samaan A. , David F. , Carta A. , Cracco P. , Raguenes O. , Dufosse F. , Ferec C. , Charron D. , Loiseau P.
Published: April 2007

Using sequence‐specific amplifications, a practical and fast technique for DRB and DQB typing has been developed. The primers are chosen in order to amplify groups of alleles corresponding to the same serological specificity. In a second step, precise allelic determination is obtained by studying the restriction fragment length polymorphism of the PCR products.

The experience of three laboratories using this technique in the context of organ or bone marrow transplantation is reported.
TAP GENE ASSOCIATIONS IN UK CAUCASOIDS
Authors: Donn R. P. , Davies E. J. , Thomson W. , Hillarby M. C. , Ollier W. E. R.
Published: April 2007

The authors determined the allele frequencies of the TAP1 and TAP2 transporter genes in a healthy UK Caucasoid population by ARMS‐PCR. TAP1A was the most frequent TAP1 allele by far, being present in 76% of subjects. TAP1 alleles could not be assigned in 24% of subjects, since the combinations TAP 1 A/1B and TAP1C/1D cannot be separated. TAP2A was the most frequent TAP2 alleles (75% of subjects) followed by TAP2B (43%), TAP2C (11%), TAP2D (8%) and TAP2E (6%). The authors also identified an individual with a previously undescribed TAP2 allele, TAP2H (isoleucine at amino acid [aa] 379, alanine at aa 565, alanine at aa 665).

It was not possible to assign unequivocally TAP2 alleles in 15 individuals (9%) as TAP2A/D and TAP2C/E cannot be distinguished from each other.

To address this problem a separate study of families of rheumatoid arthritis (RA) patients selected for this ambiguity were studied. In all five informative families, TAP2A/2D was confirmed as the combination present.

In the population studied no evidence was found for linkage disequilibrium between TAP1 and TAP2 or between the TAP genes and HLA‐DP. There was no evidence for extensive linkage disequilibrium between the TAP genes and HLA‐DQ/DR, although TAP2B was associated with DR1 (Δ= 0.056, correctedP< 0.01) and TAP2D with DR4 (Δ= 0.018). In the RA families studied, TAP2D was found on DRB1 *0401 ‐bearing haplotypes.
A NOVEL HUMAN COMPLEMENT COMPONENT C7 PHENOTYPE DETECTED IN SOUTH AFRICA AND PROPOSED DESIGNATION OF THE ALLELE AS C7*10
Authors: Orren A. , Würzner R. , Lachmann P. J. , Hobart M. J.
Published: April 2007

A novel allotype of the seventh component of human complement was detected by isoelectric focusing. The band pattern showed a complete band‐interval shift towards the cathode compared with the C7 1 allotype and it is proposed that the designation is C7 10. The allele C7* 10 segregated in two South African Cape Coloured families and had a gene frequency of 0.006. It was also found to segregate together with a C6*rare allele.
HLA CLASS II AND SUSCEPTIBILITY AND RESISTANCE TO INSULIN‐DEPENDENT DIABETES MELLITUS IN A POPULATION FROM THE NORTHWEST OF SPAIN
Authors: Baranda F. Setién , Coto E. , Déaz J. Menéndez , Martinez‐Naves E. , Marténez V. Alvarez , López‐Larrea C.
Published: April 2007

The role of HLA class II alleles in genetic predisposition to insulin‐dependent diabetes mellitus(IDDM) was examined using Polymerase Chain Reaction/oligonucleotide probe typing (PCR/SSOs) of eight HLA class II loci in 58 IDDM patients and 50 healthy controls from the Northwest of Spain (Asturias). We compared the distribution of HLA class II alleles, haplotypes and genotypes between IDDM patients and controls, and tested three recently proposed HLA‐IDDM susceptibility theories. By using the aetiologic fraction (δ) as an almost absolute measure of the strongest linkage of disequilibrium of a HLA marker to the putative Type I susceptibility locus, it has been found that the strength of association of the HLA markers may be quantified as follows: DQA1 *03‐DQB1 *0302 or DQA1 *0501‐DQB1 *0201 > DR3 or DR4; presence of more than one dimer DQαβ of the six proposed by Rønningen > non‐Asp57 DQβ and Arg52 DQα > Arg52 DQα > non‐Asp57 DQβ/non‐Asp57 DQβ > DRB1*0301; DQA1*0501‐DQB1*0201 > DQA1*03‐DQB1*0302; DQB1*0302. The presence of at least one Asp57 DQβ allele was the best protection HLA marker to IDDM in our population. Therefore, the above data confirm that IDDM susceptibility to HLA locus is linked more to DQ than DR.
MOLECULAR ANALYSIS OF CYP21 GENE MUTATIONS CARRIED ON HLA‐B14 POSITIVE HAPLOTYPES
Authors: Dondi E. , Cuccia M. , Keller E. , Martinetti M. , Larizza D. , Albert E. D.
Published: April 2007

HLA‐B14 positive haplotypes have increased frequencies in a group of patients with puberty disorders, IgA deficiency and cancer of the ovary. Clinical investigations demonstrated that all these patients have high values of 170H progesteron after the ACTH test which suggests an alterated function of 21 hydroxylase enzyme. In order to investigate whether these B14 positive haplotypes carry the same CYP21 mutation in the various diseases and controls, we have amplified by polymerase chain reaction (PCR) the sections of CYP21B gene which include amino acid positions 172 and 281 where typical mutations are known to occur in 21 hydroxylase deficiency. The presence or absence of the defined mutations was tested by oligonucleotide hybridization using oligonucleotides, labelled with DIG‐ddUTP, designed to hybridize with the mutated or with the normal sequence. It was found that regardless of whether the subject tested was a patient or a healthy control the mutation at position 281 was found in all cases carrying HLA‐B14, DR1 haplotype. Interestingly, this mutation does not seem to be in association with HLA‐B14, DR7 haplotype.

These findings suggest that CYP21 gene plays a role in all these differing diseases although it must be stressed that there may be alternative explanations for the observed data.
DPB1 LOCUS PCR‐RFLP TYPING OF THE FOURTH ASIA‐OCEANIA HISTOCOMPATIBILITY WORKSHOP CELL PANEL REVEALS A NOVEL DPB1 ALLELE
Authors: Naughton M. J. , Limm T. M. , Ashdown M. L. , Simons M. J.
Published: April 2007

DPB1 locus typing of the 155 cell 4AOHW panel was performed using a PCR‐RFLP method. Ambiguity of allele assignment was resolved by amplification using sequence‐specific primers. Of the 150 cells for which typings were achieved, three exhibited unusual restriction enzyme fragment patterns, suggesting the possibility of novel DPB1 alleles. Sequence analysis revealed one allele present in the currently reported 46, one novel allele (4AOHW/107) not present among the 46, and one from a non‐human primate which is being investigated. Twenty‐six (26) of the 34 10IHW cells have been studied previously by cDNA RFLP, and strong haplotypic associations have been demonstrated between DPA1 and DPB1 locus alleles. It is proposed that exploitation of intron polymorphisms marking haplotypes will be an integral part of future DPB 1 typing as a ‘first‐pass’ stratification process to minimize the requirement for sequence‐based methods to definitively assign DPB 1 alleles.