title: A study on the relationship  between TCTA tetranucleotide polymorphism of the HPRT gene and primary  hyperuricemia.
abstract: 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.
authors.affiliation: Key Laboratory of Ministry of Public Health for Forensic Science, Xi'an Jiaotong University, Xi'an, China.
authors.forename: Y S
authors.initials: YS
authors.lastname: Zhu
authors.forename: S G
authors.initials: SG
authors.lastname: Wei
authors.forename: R F
authors.initials: RF
authors.lastname: Sun
authors.forename: J L
authors.initials: JL
authors.lastname: Feng
authors.forename: W J
authors.initials: WJ
authors.lastname: Kuang
authors.forename: J H
authors.initials: JH
authors.lastname: Lai
authors.forename: S B
authors.initials: SB
authors.lastname: Li
mesh_terms: D000483:Alleles; D044466:Asian People; D001483:Base Sequence; D002681:China; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007438:Introns; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase