Interleukin-18 gene polymorphism,but not interleukin-2 gene polymorphism,is associated with rheumatoid arthritis

To investigate whether polymorphisms of IL-2 and IL-18 genes are associated with rheumatoid arthritis (RA), polymorphisms of IL-2 and IL-18 genes were detected by polymerase-chain-reaction-based restriction analysis in the patients with RA and normal controls. The results for the IL-18 gene revealed a significant difference between the patients and the normal controls (p = 0.000003), but there was no significant difference for the IL-2 gene (p = 0.876). The IL-18 gene 105A allele was associated with RA in Chinese patients. Individuals possessing the 105A allele had a higher incidence of RA. A lack of association of IL-2 gene polymorphism between RA patients and healthy individuals was noted. The results of this study provide genetic evidence that IL-18-105A/C polymorphism may play an effective role in RA.     

HLA-G gene polymorphism in a Japanese population

 Polymorphism of the HLA-G gene in a Japanese population was investigated employing polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) analysis, PCR sequence-specific oligonucleotide (SSO) analysis, and DNA direct sequencing. Nucleotide sequence variations in exons 2, 3, and 4 of the HLA-G gene in 54 healthy Japanese individuals were examined. In addition, seven Japanese samples carrying common HLA haplotypes were analyzed. In total, nine single-base substitutions compared with the sequence of G ^* 01011 were identified: one in intron 1 (nucleotide position 970), one in exon 2 (the third base of codon 57: G → A), three in intron 2 (1264, 1276, and 1292), three in exon 3 (the third base of codon 93: C → T, the third base of codon 107: A → T, and the first base of codon 110: C → A), and one in intron 3 (2334). The substitution at codon 110 was non-synonymous and led to an amino acid substitution from leucine to isoleucine. The other three nucleotide substitutions in exons were synonymous. Through analysis of combinations of the exon 2, 3, and 4 nucleotide sequences we identified four alleles, which we provisionally designated GJ1, GJ2, GJ3, and GJ4. The allele frequencies were estimated to be 0.33, 0.16, 0.45, and 0.06, respectively. Nucleotide sequences of GJ1, GJ2, and GJ4 were identical to G ^* 01011, the clone 7.0E, and G ^* 01013, respectively. GJ3 was a newly observed allele and was officially designated G ^* 0104 by the WHO Nomenclature Committee in January 1996. Strong positive associations were observed between HLA-G alleles and HLA-A, -B, or -DRB1 alleles. Received: 15 February 1996 / Revised: 26 March 1996     

Genetic polymorphism of human urine deoxyribonuclease I

Summary A genetic polymorphism of human urine deoxyribonuclease I (DNase I) has been detected by the technique of polyacrylamide gel isoelectric focusing (IEF-PAGE) followed by immunoblotting with anti-DNase I antibody. Family studies showed that the three common phenotypes —DNASE1 1, 1–2, and 2 — and the other four rare phenotypes — DNASE1 1–3, 2–3, 2–4, and 3–4 — represent homozygosity or heterozygosity for four autosomal codominant alleles, DNASE1 ^* 1, ^* 2, ^* 3, and ^* 4. The frequencies of the DNASE1 ^* 1, DNASE1 ^* 2, DNASE1 ^* 3, and DNASE1 ^* 4 alleles in a studied Japanese population were 0.5453, 0.4396, 0.0117, and 0.0034, respectively.     

Genetic polymorphism of human anodal tear protein

Electrophoresis of human tears on slab polyacrylamide gels showed five phenotypes among anodal tear proteins. These phenotypes are the expression of autosomal codominant alleles. Gene frequencies are as follows: for Caucasians, At ¹=0.99, At ³=0.01; for Negroes, At ¹=0.97, At ²=0.03; for Chinese, At ¹=0.98, and At ⁴ and At ⁵ are both approximately 0.008.This study was supported by a grant from the National Institutes of Dental Research (5-R01-DE-E-03658-10).     

Alcohol dehydrogenase polymorphism in Apis mellifera

A polymorphic system of ADH isozymes is described in the honeybee Apis mellifera. Three and six different electrophoretic patterns were found, respectively, in drone and worker pupae analysis. The data indicate that the ADH isozymes are controlled by three alleles, Adh-1 ¹, Adh-1², and Adh-1 ³. The frequency of the Adh-1 alleles is different in two analyzed subspecies, Apis mellifera adansonii (African bees) and Apis mellifera ligustica (Italian bees). In the African bees, the frequencies are 0.256 and 0.697 for Adh-1 ¹ and Adh-1², respectively. In the Italian bees, these values are shown to be 0.902 and 0.098, respectively. The allele Adh-1 ³ was not detected in the Italian bee population. The effect of NAD on the resolution of this system was investigated, and only one region of ADH activity was obtained in drone pupae analysis when NAD was used in the gels. However, two different regions of activity were observed in the same samples, in the absence of the coenzyme. ADH activity was not detected in young larvae, but it increased to a maximum in prepupal and white-eyed pupal phases. It then declined progressively to total absence in the emerging bees.This work was supported by the Brazilian Research Council (CNPq) and S~ao Paulo State Research Foundation (FAPESP). This study was performed by the senior author in partial fulfillment of the requirements for a master's degree and was directed by Dr. M. A. Mestriner, Genetics Department, University of São Paulo at Ribeirão Preto.     

ESD polymorphism in Norway

Summary ESD phenotype distribution and allele frequencies in 217 Norwegians and 196 Norwegian Lapps are presented. There is good accordance with Hardy-Weinberg distribution, ESD ¹ allele frequencies are 0.887 in the Norwegians and 0.872 in the Lapps.     

Gliadin polymorphism in wild and cultivated einkorn wheats

To study the relationships between different species of the Einkorn group, 408 accessions of Triticum monococcum, T. boeoticum, T. boeoticum ssp. thauodar and T. urartu were analyzed electrophoretically for their protein composition at the Gli-1 and Gli-2 loci. In all the species the range of allelic variation at the loci examined is remarkable. The gliadin patterns of T. monococcum and T. boeoticum were very similar to one another but differed substantially from those of T. urartu. Several accessions of T. boeoticum and T. monococcum were shown to share the same alleles at the Gli-1 and Gli-2 loci, confirming the recent nomenclature that considers these wheats as different subspecies of the same species, T. monococcum. The gliadin composition of T. urartu resembled that of the A genome of polyploid wheats more than did T. boeoticum or T. monococcum, supporting the hypothesis that T. urartu, rather than T. boeoticum, is the donor of the A genome in cultivated wheats. Because of their high degree of polymorphism the gliadin markers may help in selecting breeding parents from diploid wheat germ plasm collections and can be used both to search for valuable genes linked to the gliadin-coding loci and to monitor the transfer of alien genes into cultivated polyploid wheats. Received: 8 July 1996 / Accepted: 12 July 1996     

Peptidase B polymorphism in cattle erythrocytes

Starch gel electrophoresis and histochemical staining withl-leucylglycyl-glycine revealed genetic polymorphism in peptidase B in cattle erythrocytes. Genetic analysis of 164 full families indicated that the three phenotypes observed are the product of an autosomal locus with two codominant alleles,PepB ¹ andPep B ², A sample consisting of 2630 individuals representing 5 Zebu, 13 European, and 2 crossbred breeds was studied. This polymorphism was observed in all Zebu and crossbred breeds. The frequency of thePep B ¹ allele was 0.89, 0.83, 0.59, 0.82 and 0.62 in the Nellore, Gyr, Guzerat, Indubrazil, and Tabapuan breeds, respectively. ThePep B ² allele appears to be fixed in the European breeds, except Marchigiana and Chianina. This work was supported by the Brazilian Research Council (CNPq).     

Chromosomal polymorphism in the yeast species Debaryomyces hansenii

Pulse field gel electrophoresis karyotypes of 41 strains of the genus Debaryomyces, including 35 strains confirmed as D. hansenii species by D1/D2 ribosomal DNA sequence analysis, were performed. Electrophoretic karyotypes of the 41 strains exhibited 4 to 10 chromosomal bands ranging between 0.7 Mb and 4.2 Mb. Among D. hansenii species, the patterns of strains obtained from the CBS collection and cheese isolates differed strongly from D. hansenii var. hansenii CBS767^T. Both D. hansenii var. hansenii and D. hansenii var. fabryii showed chromosome length polymorphism. Electrophoretic karyotypes of the D. hansenii strains were analyzed by Southern hybridization with various species-specific probes isolated from D. hansenii var. hansenii CBS767^T. Repeated sequences including the F01pro, M18pro, the Ty1-copia retrotransposon Tdh5 and hypothetical telomeric sequence hybridized to several chromosomal bands, while a D1/D2 probe derived from the large ribosomal sub-unit hybridized only to the largest chromosome. Unique probes such as those hybridizing to actin ACT1, glycerol-3-phosphate dehydrogenase GPD1 and β-glucosidase LAC4 encoding genes were assigned to specific chromosomal bands of D. hansenii var. hansenii CBS767^T. These probes failed to hybridize to D. hansenii var. fabryii strongly suggesting that strains of this variety actually represent a different taxon. This revised version was published online in August 2006 with corrections to the Cover Date.     

Chromosomal polymorphism in the yeast species Debaryomyces hansenii

Pulse field gel electrophoresis karyotypes of 41 strains of the genus Debaryomyces, including 35 strains confirmed as D. hansenii species by D1/D2 ribosomal DNA sequence analysis, were performed. Electrophoretic karyotypes of the 41 strains exhibited 4 to 10 chromosomal bands ranging between 0.7 Mb and 4.2 Mb. Among D. hansenii species, the patterns of strains obtained from the CBS collection and cheese isolates differed strongly from D. hansenii var. hansenii CBS767^T. Both D. hansenii var. hansenii and D. hansenii var. fabryii showed chromosome length polymorphism. Electrophoretic karyotypes of the D. hansenii strains were analyzed by Southern hybridization with various species-specific probes isolated from D. hansenii var. hansenii CBS767^T. Repeated sequences including the F01pro, M18pro, the Ty1-copia retrotransposon Tdh5 and hypothetical telomeric sequence hybridized to several chromosomal bands, while a D1/D2 probe derived from the large ribosomal sub-unit hybridized only to the largest chromosome. Unique probes such as those hybridizing to actin ACT1, glycerol-3-phosphate dehydrogenase GPD1 and β-glucosidase LAC4 encoding genes were assigned to specific chromosomal bands of D. hansenii var. hansenii CBS767^T. These probes failed to hybridize to D. hansenii var. fabryii strongly suggesting that strains of this variety actually represent a different taxon. This revised version was published online in June 2006 with corrections to the Cover Date.     

Purine nucleoside phosphorylase polymorphism in sheep erythrocytes

A polymorphism of purine nucleoside phosphorylase is described in sheep erythrocytes. Two isozymes were distinguished electrophoretically, one with high activity (NP-1) and one with low activity (NP-2). Breeding data suggest that the two isozymes are the product of two codominant alleles, NP ¹and NP ². The K _m 's for inosine did not differ between NP-1 and NP-2; however, NP-2 had a lower pH optimum and was relatively unstable when incubated at 48 C.Contribution No. 421-J, from the Department of Pathology, Kansas Agricultural Experiment Station, Manhattan, Kansas. Supported in part by USPHS Grants HL-70119 and HL 12072.     

Trans-species origin of Mhc-DRB polymorphism in the chimpanzee

Trans-specific evolution of allelic polymorphism at the major histocompatibility complex loci has been demonstrated in a number of species. Estimating the substitution rates and the age of trans-specifically evolving alleles requires detailed information about the alleles in related species. We provide such information for the chimpanzee DRB genes. DNA fragments encompassing exon 2 were amplified in vitro from genomic DNA of ten chimpanzees. The nucleotide sequences were determined and their relationship to the human DRB alleles was evaluated. The alleles were classified according to their positioni in dendrograms and the presence of lineage-specific motifs. Twenty alleles were found at the expressed loci Patr-DRB1,-DRB3, -DRB4, -DRB5, and at the pseudogenes Patr-DRB6, -DRB7; of these, 13 are new alleles. Two other chimpanzee sequences were classified as members of a new lineage tentatively designated DRBX. Chimpanzee counterparts of HLA-DRB1 ^* 01 and ^* 04 were not detected. The number of alleles found at individual loci indicates asymmetrical distribution of polymorphism between humans and chimpanzees. Estimations of intra-lineage divergence times suggest that the lineages are more than 30 million year old. Predictions of major chimpanzee DRB haplotypes are made.The nucleotide sequence data reported in this paper have been submitted to the GenBank nucleotide sequence database and have been assigned the accession numbers M94937-M94954.     

Limited MHC polymorphism in whales

Little is known about disease and genetic variation in aquatic mammalian species such as whales. In this paper human HLA class I and class 11 probes were used to study major histocompatibility complex (MHC) genes from two species of whale: Fin (Balaenoptera physalus) and Sei (B. borealis). Stronger signals were obtained on whale than on equivalent concentrations of mouse DNA. Evidence was obtained for severalDRB-related genes, aDNA gene, oneDQA gene, and multiple class I genes in whales. Interestingly, the whale genes, from the small panel studied, were less polymorphic than those of humans or mice. The aquatic environment of this mammalian species may be a unique factor in shaping its immune response through the MHC.     

Adaptive significance of amylase polymorphism in Drosophila

Laboratory populations of D. busckii flies were kept for one generation on media containing different carbohydrate sources (maltose and rice, potato or maize starch). The flies maintained on standard potato medium served as a control. Progeny were analyzed for -amylase activity and Amy-electromorph frequencies.Spectrophotometrically assayed amylase activity was highest in the flies cultured on potato starch medium and lowest in specimens kept on maltose. Carbohydrate source in some substrates affected both frequencies of Amy-alleles and Amy-genotypes. Phenotypic differences at a biochemical level, i.e. in -amylase activity, might be connected to Amy-structural gene polymorphism in the examined Drosophila species.     

Ribosomal DNA repeat unit polymorphism in 25 Hordeum species

Summary Tandemly repeated DNA sequences containing structural genes encoding ribosomal RNA (rDNA) were investigated in 25 species of Hordeum using the wheat rDNA probe pTA71. The rDNA repeat unit lengths were shown to vary between 8.5 and 10.7 kb. The number of length classes (1–3) per accession generally corresponded to the number of nucleolar organizing regions (NORs). Intraspecific variation was found in H. parodii, H. spontaneum and H. leporinum, but not in H. bulbosum. Restriction analysis showed that the positions of EcoRI, SacI and certain BamHI cleavage sites in the rRNA structural genes were highly conserved, and that repeat unit length variation was generally attributable to the intergenic spacer region. Five rDNA BamHI restriction site maps corresponded to the following groups of species: Map A — H. murinum, H. glaucum, H. leporinum, H. bulbosum, H. marinum, H. geniculatum; Map B — H. leporinum; Map C — H. vulgare, H. spontaneum, H. agriocrithon; Map D — H. chilense, H. bogdanii; and Map E — remaining 14 Hordeum species. The repeat unit of H. bulbosum differed from all other species by the presence of a HindIII site. The closer relationship of H. bulbosum to H. leporinum, H. murinum and H. glaucum than to H. vulgare was indicated by their BamHI restriction maps.Contribution No. 1169, Plant Research Centre     

TAP1 and TAP2 polymorphism in coeliac disease

Coeliac disease is strongly associated with HLA-DQ2, but it is possible that additional major histocompatibility complex genes also confer disease susceptibility. Encoded close to HLA-DQ are two genes, TAP1 and TAP2, whose products are believed to transport antigenic peptides from the cytoplasm into the endoplasmic reticulum. Comparison of 81 coeliac disease patients with caucasoid controls revealed an increased frequency of the alleles TAP1A and TAP2A in the patient population. However, no significant difference was found when patients were compared with HLA-DR and -DQ matched controls, indicating linkage disequilibrium between TAP1A, TAP2A, and HLA-DQ2. The TAP gene products do not have a major influence on susceptibility or resistance to coeliac disease in a Northern European Caucasoid population. Correspondence to: S. H. Powis.     

Genetic polymorphism of the complement C2 in Japanese

Summary Genetic polymorphism of the second component of human complement (C2) was investigated in 521 unrelated healthy adult Japanese using isoelectric focusing in polyacrylamide gel followed by a specific hemolytic overlay method. Besides the phenotypes reported previously (C, AC and BC), a relatively infrequent double-banded phenotype (tentatively named A'C) was observed. Moreover, a homozygous variant (A) and a heterozygous double variant (AB) were observed. The estimated frequencies for the common allele. C2 ² (=C2 ¹ ), and the variant alleles, C2 ^A , C2 ^B (=C2 ² ) and C2 ^A were 0.939, 0.034, 0.022, and 0.006, respectively.The results of further typing for HLA-A,-B,-C specificities indicated the presence of significant associations of C2 ^A with HLA-B15 and with A26, and of C2 ^B with HLA-Bw61. These findings support our previous observation that in Japanese there are allelic combinations showing linkage disequilibrium between C2 and HLA loci which are different from those in Caucasians, and that the C2 structural locus is more closely linked to HLA-B than to HLA-A.C2 hemolytic activities of each phenotypes were assayed. The mean activity of type AC sera was significantly higher than that of type C or type BC, while there were no differences in the activities among the types C, BC or A'C.Also presented are two pedigrees demonstrating the segregation of C2 with HLA alleles in which a homozygous C2A or C2B individual was observed.     

Phosphoglycerate kinase polymorphism in Drosophila

A polymorphism for electrophoretic mobility of phosphoglycerate kinase is found in natural populations of Drosophila melanogaster. The gene for the enzyme is located on chromosome II at 0.075 ± 0.002 on the proximal side of al.This work was supported by a La Trobe University graduate scholarship to G.K.C. and by an Australian Research Grants Committee grant to D.W.C.     

Genetic polymorphism of complement component C8

Summary Extensive genetic polymorphism of complement component C8 was demonstrated by isoelectric focusing of serum or plasma samples followed by immunoblotting procedures. Using these methods, we could detect both - (C81) and (C82) chain polymorphisms in the same gel. Two-dimensional (2D) electrophoresis of C8 immunoprecipitates was used to obtain further information of the C8 patterns. Evidence was obtained that the C81 polymorphism resides in the structural gene of the C8 chain. Both C8 systems show autosomal, chiefly codominant inheritance, and the distribution of phenotypes agrees with the Hardy-Weinberg equilibrium. Our findings suggest at least five different alleles in the C81 system; the gene frequencies of the two most common ones, C81 ^*A and C81 ^*B being 0.59 and 0.39, respectively. In C82 we found evidence for at least three codominant alleles, the gene frequencies for the two most common ones, C82 ^*B and C82 ^*A being 0.94 and 0.05, respectively. In addition, family studies disclosed the existence of a null allele, C82 ^* Q0.     

Genetic polymorphism of ferula mushroom growing on Ferula sinkiangensis

Mating tests, internal transcribed spacer (ITS) sequence analysis, intergenic spacer 1–restriction fragment length polymorphism (IGS1-RFLP), IGS1 sequence analysis, and IGS2-RFLP analysis were carried out on isolates of 17 morphologically different Pleurotus mushrooms collected on Ferula sinkiangensis. The isolates were divided, based on mating tests and ITS sequence analysis, into two groups identical to P. eryngii var. ferulae and P. nebrodensis, respectively. Single spores from these two groups were incompatible, but those from P. eryngii var. ferulae and P. eryngii were compatible and combined to produce 56.25% dikaryon mycelia with clamp connections. The ITS of P. eryngii var. ferulae and P. nebrodensis (GenBank accession no. AY311408) were both 638 bp in size but differed by 3% in sequence. P. eryngii var. ferulae and P. eryngii (GenBank accession no. AY368658) were identical in ITS size and sequence. P. nebrodensis was the dominant population of Pleurotus mushroom growing on F. sinkiangensis. It exhibited genetic diversity. The two species could also be distinguished by IGSI-RFLP, similar to identification by mating tests and ITS sequence analysis. Difference in IGS1-RFLP existed between P. eryngii var. ferulae and P. nebrodensis. The sequence difference reached 2.28%. Both IGS1 size and IGS1-RFLP were similar among the different samples of P. nebrodensis. The 17 isolates were separated into five types based on IGS2 size and IGS2-RFLP, with both interspecies and extraspecies differences. P. nebrodensis exhibited polymorphism and was divided into four types. These results agreed with macroscopic differences. IGS2 might be the effective domain of genetically polymorphic ribosomal DNA in P. nebrodensis mushrooms found in Xinjiang, China.