Search results for "Allele"
showing 10 items of 1006 documents
Interleukin-10 promoter polymorphism in sporadic Alzheimer's disease.
2003
Proinflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their high production have been shown to be associated with AD. Thus, AD patients display a proinflammatory genotype and the control of inflammation might play a protective role in AD development. By sequence-specific probes, we have evaluated the role of anti-inflammatory cytokine interleukin(IL)-10 in AD, by analysing in 132 AD patients and 213 healthy controls the prevalence of three different haplotypes, involving three single-nucleotide polymorphisms (SNPs) at -1082 (G--A), -819 (C--T) and -592 (C--A) nucleotides of IL-10…
Report of the European DNA profiling group (EDNAP)-an investigation of the hypervariable STR loci ACTBP2, APOAI1 and D11S554 and the compound loci D1…
1999
This paper describes the results of three collaborative exercises which continues the EDNAP theme to explore whether uniformity of DNA profiling results could be achieved between European laboratories using STRs. In an earlier exercise, complex hypervariable AAAG-repeat STR loci were investigated, but reproducibility was found to be poor because of the variation of techniques used by participating laboratories. In the exercise reported here, an internal allelic ladder composed of ACTBP2 and D11S554 fragments was distributed. This ladder was used to size ACTBP2 analysed by a "singleplex" PCR amplification and D11S554 combined with APOAI1 in a separate "duplex" reaction. Laboratories were ask…
Towards a Physical Map of the HLA Complex
1989
The human major histocompatibility (HLA) complex is located on the short arm of chromosome 6 in the 6p21.31→6p21.33 region (1,2). There are three clusters of genes, the HLA class I, II, and III regions. Whereas the class III loci are only moderately polymorphic (see (3) for review), the class I and II genes which encode cell surface glycoproteins show an extreme degree of polymorphism. There are a minimum of 17 class I loci (4) and at least 15 genes for class II alpha and beta chains (5). In addition, we (6) and others (7) have recently demonstrated that also the loci for tumor necrosis factor (TNFA) and lymphotoxin (TNFB) are part of the HLA complex [see also Ragoussis et al., this volume]…
The TaqIB and −629C>A polymorphisms at the cholesteryl ester transfer protein locus: associations with lipid levels in a multiethnic population. T…
2002
The Singapore population comprises Chinese, Malays and Asian Indians. Within this population, Asian Indians have the highest rates of coronary heart disease, whereas Chinese have the lowest. Conversely, Indians have the lowest high-density lipoprotein cholesterol (HDL-C) concentrations, followed by Malays and Chinese. We studied the TaqIB and -629C>A polymorphisms at the CETP locus in 1300 Chinese, 364 Malay and 282 Asian Indian men, and in 1558 Chinese, 397 Malay and 306 Asian Indian women, to determine whether these polymorphisms are responsible for the ethnic difference in HDL-C concentration. The frequency of the B2 allele in Chinese, Malays and Indians was 0.384, 0.339 and 0.449 in men…
Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature
1997
(1) The nomenclature of any STR follows from comparison with a control allelic ladder; availability of reference allelic ladders is central to any scheme. The components of an allelic ladder should be sequenced. (2) The DNA commission recommended a nomenclature based upon the number of repeat sequences present in an allele. Whereas this method is suitable for typing simple STRs, complex hypervariable repeats such as ACTBP2 do not conform to a simple repeating structure. We propose that designation of complex STR repeats such as ACTBP2, D11S554 and APOAI1 follows from the size of specific alleles. Because the size is dependant upon the primers utilised, the size is not definitive (it may als…
Axolotl MHC class II β chain: predominance of one allele and alternative splicing of the β1 domain
2001
The axolotl MHC is composed of multiple polymorphic class I loci linked to class II B loci. In this report, evidence of the existence of one class II B locus (Amme-DAB) that codes for two different transcripts is given. A 2.1-kb transcript is translated to a complete β chain and a shorter transcript of 1.8 kb encodes a molecule lacking the β1 domain. For two complete class II B mRNA synthesized, up to one mRNA devoid of the β1 domain is synthesized. Alternative splicing involving a peptide binding domain at a class II B locus evidenced in axolotl (Ambystoma mexicanum) is also observed for A. trigrinum, the tiger salamander. Very little variability is found among various axolotl MHC class II…
On the genetics of the pi serum proteins.
1970
The authors report family studies (51 families with 134 children) on the inheritance of the Pi phenotypes. Combining these data with a Norwegian family material (77 families with 323 children) published by Fagerhol and Gedde-Dahl (1969) a total of 128 families with 457 children is now available, which allows the following conclusion: The Pi phenotypes are inherited by a simple codominant mode of heredity and they are determined by a set of (at least nine) alleles. As up to now no exception to the role of inheritance has been observed, the application of the Pi system in cases of disputed paternity seems to be discussible. Some methodological problems in connection with this are shown.
Serumprotein polymorphisms in Iran.
1968
The results of a population genetic investigation on Iranians are given and compared to the results obtained on other populations from Southwestern and Southern Asia. Our total material from Iran comprises n=1020 nonrelated male and female individuals of different age. The following serum groups have been typed: Hp, Gc, Gm, and Inv. In general there exist no remarkable age or sex differences in the distribution of phenotypes and alleles (the only exception: sex differences in the distribution of the Gm (7)-phenotype). The regional distribution of phenotypes and alleles yield no marked differences, too, apart from the Invphenotypes, however. For the total material of Iran the following allel…
The transcriptomes of columnar and standard type apple trees (Malus x domestica) - a comparative study.
2011
Columnar apple trees (Malus x domestica) provide several economic advantages due to their specific growth habit. The columnar phenotype is the result of the dominant allele of the gene Co and is characterized by thick stems with short internodes and reduced lateral branching. Co is located on chromosome 10 and often appears in a heterozygous state (Co/co). The molecular explanation of columnar growth is not well established. Therefore, we studied the transcriptomes of columnar and standard type apple trees using 454 and Illumina next generation sequencing (NGS) technologies. We analyzed the transcriptomes of shoot apical meristems (SAMs) because we expect that these organs are involved in f…
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.
1997
IVS10nt546 (IVS10nt-11g→a) is the most common molecular defect of the phenylalanine hydroxylase gene causing phenylketonuria in Mediterranean populations. Previous studies have proposed various and alternative hypotheses concerning the geographical origin and pattern of diffusion of this mutation in this area. In this study, this issue was re-examined on a large sample (149) of “Mediterranean” IVS10nt546 mutant alleles analysed with multiallelic intragenic polymorphisms. The analysis of intragenic microsatellite (STR) and minisatellite (VNTR) polymorphisms shows allelic heterogeneity of the IVS10nt546 mutation. Eight STR and three VNTR alleles were found in association with the splicing def…