Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.2.8 (hypoxanthine-guanine phosphoribosyltransferase)
 2,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A protocol for simultaneous amplification of the tetrameric STR loci HUMVWA, HUMTH01, D21S11 and HPRT has been developed in this study. Fluorescent amplified alleles were detected by laser scanning on the ALF DNA sequencer, and identified with locus specific allelic ladders. A sequencing survey of these STR loci was performed in 40 selected individuals from three major ethnic groups and confirmed the data reported previously. At the D21S11 locus, a new allele of 207 bp, was found in a Belgian Caucasian individual and designated as allele 25.2. Sequence analysis of this allele revealed that it contained a 14 bp deletion of (TCTA)3 TA at the beginning of the constant region. A nonconsensus allele of 245 bp, described and designated as allele 33.2.3(2x) by Brinkmann et al. (1996), was identified in an individual of central African origin. In addition, three new sequence variants of the allele 29, 30 and 32 were observed at D21S11.
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PMID:Quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT) with sequence-defined allelic ladders identification of a new allele at D21S11. 967 Apr 82

Abstract DNA typing of four tetrameric repeat loci (HUMVWA, HUMTH0I, D21SII and HPRT) was carried out in a Chinese Han population from Shanghai (East China) and one from Guangzhou (South-East China) using a quadruplex PCR amplification and detection of the fluorescent-labeled alleles on the ALF DNA sequencer. All loci were in accordance with Hardy-Weinberg equilibrium except for D21S11 in the Guangzhou population. A test for population differentiation showed no statistical difference in the allele frequency distribution between the two populations. Comparison of the allele frequency data with other Chinese Han populations from North and South-West China for the STR loci HUMVWA and HUMTH01 revealed heterogeneity between Northern Chinese Han and Southern Chinese Han, which is in accordance with previous studies on the basis of protein markers.
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PMID:Genetic data obtained for two Chinese Han populations with a quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT). 982

Previously, we designed a chromosomal vector (CV) and reported germline transmission of the vector by mice and regulated expression of the human tissue factor (F3) gene present on the CV. Further characterization and development of the CV are presented here. Mice could be bred with one to four copies of the CV per cell, and it is shown that F3 expression is proportional to the CV copy number. The insertion of large sequences into the CV was investigated by the insertion of a PAC, carrying 62.5 kb of human genomic DNA containing the CSN2 and STATH genes, into the CV by means of Cre/loxP recombination (CV(PAC)). Retrofitting the PAC with a cytomegalovirus (CMV)-5'HPRT/loxP cassette in Escherichia coli allowed efficient selection of CVs with PAC insert. Mitotic loss rates of the CV(PAC) were similar to the original CV. Furthermore, germline transmission efficiency and mitotic stability of the CV(PAC) in mice were not compromised. The human CSN2 and STATH genes were not expressed in the transchromosomal mice. In contrast, F3, already present on the CV, was expressed in CV(PAC)(+) F(1) mice similar to in CV(+) mice, suggesting that the insertion of large sequences does not interfere with transcription of genes present on the CV.
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PMID:Controlled transgene dosage and PAC-mediated transgenesis in mice using a chromosomal vector. 1461 1

We examined polymorphism of the TCTA tetranucleotide sequence in the 3rd intron of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in the Han population of Ningxia Province in China. We also looked for a possible relationship between STR polymorphism in the 3rd intron of the HPRT gene and primary hyperuricemia. We used Chelex-100 to extract DNA, then PCR, PAGE and silver staining for allele genotyping and DNA sequencing to obtain the distribution of the alleles. We found, for the first time, that there is high STR polymorphism in the 3rd intron of the HPRT gene. We detected 5 STR alleles in this intron in the Han population of Ningxia Province, with 15 genotypes in females; significant differences were observed in the distribution of alleles and genotypes between control and patient groups for both males and females. Alleles of the TCTA repeat in the 3rd intron of the HPRT gene were found to be associated with primary hyperuricemia; consequently, these alleles may be considered risk factors for primary hyperuricemia.
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PMID:A study on the relationship between TCTA tetranucleotide polymorphism of the HPRT gene and primary hyperuricemia. 2219 67