摘要:

SUMMARYTheNcoI polymorphism of theHSP70‐Homgene was investigated in the Finnish population and in two HLA‐B27‐associated autoimmune diseases. The twoHSP70‐Homalleles were shown to be strongly associated to some specific HLA‐B/DR haplotypes in random Finnish population and the segregation of the alleles as a part of these haplotypes was confirmed in 18 families. In addition, theHSP70‐Homalleles of 31 patients with ankylosing spondylitis (AS) and 38 with reactive arthritis (ReA) were compared with each other and with 56 unrelated healthy HLA‐B27 positive individuals. The results indicated that theHSP70‐Hompolymorphic variation is not connected independently to the different pathogenesis of AS and ReA, as no statistically significant differences between the patient groups and/or controls could be found. TheHSP70‐Homstatus was investigated also in 28 homozygous HLA typing cells and when compared with previously published results ofHSP70‐1andHSP0‐2polymorphisms, it appeared that these three MHC Class‐III linkedHSP70genes segregated in fix

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00179.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

SUMMARYHLA‐DPB1 allele frequencies in 181 unrelated control individuals and 70 rheumatoid factor‐positive RA patients from Seville (Spain) were determined using oligonucleotide typing methods. All frequencies shown concern the percentage of individuals positive for a certain allele. HLA‐DPB1*0401 was the most common DPB1 allele in the healthy individuals, possessed by 65.7% of them. In addition to HLA‐DPB1 *0401, only the following alleles were found in normal subjects at frequencies greater than 10%: DPB1*0101 (15.5%), DPB1*0201 (12.2%), DPB1*0301 (16.6), and DPB1*0402 (29.3%). When HLA‐DPB1 allelic frequencies were compared between seropositive RA patients and controls, a negative association for DPB1*0301 and DPB1*0401 was found in RA patients, although it failed to reach statistical significance after correction for the number of comparisons made. The other DPB1 alleles exhibited almost identical frequencies in both groups. However, when only DR4+patients and controls were considered, the decrease in the frequency of the DPB1*0301 and DPB1*0401 alleles lacked statistical significance. On the other hand, when DR4‐RA patients and controls were compared, the frequency of DPB1*0301 was found decreased significantly again, even more than in the whole group

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00180.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

SUMMARYDNA oligotyping was used to determine HLA‐A28 subtypes in 25 unrelated Caucasian individuals living in or around Seville, Spain. Results showed that HLA‐A*6802 was the most frequent allele, found in 14 individuals (53.8%), followed by HLA‐68.3, which was present in eight subjects (30.8%), and both combined represented 84.6% of A28+individuals in the area. The HLA‐A*6801 allele was found in three individuals (11.5%), whereas HLA‐A*6901 was present in one subject only (3.8%). Results indicate that the distribution of HLA‐A28 alleles can vary among different Caucasoid populations. In this way, the high frequency obtained for A*6802 supports previous studies suggesting that the HLA‐A*6802 allele was prevalent in people of the Mediterranean basin, in contrast to A*6801, prevalent in northern Europea

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00181.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

SUMMARYUsing 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 reporte

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00182.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

SUMMARYHuman mannan‐binding protein (MBP) is a serum lectin that participates in the immune defence by mediating phagocytosis and activation of complement. Variant MBP alleles causing dominant low‐serum concentrations have high frequencies in all populations studied, and therefore, low MBP concentrations may confer selective advantages to those individuals carrying the variant alleles.Mycobacterium leprae, the causative agent of leprosy, is an obligate intracellular parasite dependent on phagocytosis to invade host cells. The serum concentrations of MBP in 36 Ethiopian patients (median: 1688μgl‐1) with lepromatous or borderline lepromatous leprosy were significantly (P<0.001) higher than in 26 healthy Ethiopian blood donors (median: 368μgl‐1) Only 17% of the patients vs. 58% of the donors(P =0.0019) had the relatively low MBP concentrations usually associated with variant alleles. Functional studies revealed thatM. lepraeandM. tuberculosissonicates bind MBP as strongly as pure mannan. These observations suggest a role for mycobacteria as a selective force in the positive selection of alleles causing low levels of MBP and warrant genetic studies of patients infected with these

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00183.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

SUMMARYSelective IgM deficiency is found commonly in patients with Bloom's syndrome (BS). Serum IgM concentrations were low though serum IgG and IgA concentrations were normal in both patients with BS included in the study. In a previous study the authors showed that selective IgM deficiency in BS is due to an abnormality in the maturation of surface IgM‐bearing cells into IgM‐secreting cells and a failure of secreted μ (μ s) mRNA synthesis. The membrane‐bound μ (μ m) and μ s mRNA are produced from transcripts of a single immunoglobulin μ gene by alternative RNA processing pathways. The control of μ s mRN A synthesis depends on the addition of poly(A) to μ s C‐terminal segment. The study described here demonstrated that there was no mutation or deletion in the sequence including μ s C‐terminal coding sequence, the RNA splice site (GG/TAAAC) at the 5’ end of μ s C‐terminal segment, and the AATAAA poly(A) signal sequence, and second GT‐rich element immediately down‐stream of the cle

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00184.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:1744-3121    

DOI:10.1111/j.1744-313X.1994.tb00185.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY