Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan

Journal of Rheumatology

Volumn 34, Issue 4, 2007, Pages 794-797

  Wu, Chien Hui ^a   Lai, Han Ming ^a   Yang, Ming Chi ^a   Liaw, Chih Chuang ^b,c   Chang, Shun Jen ^d   Ko, Ying Chin ^d,e   Chen, Chung Jen ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b CHIA NAN UNIVERSITY OF PHARMACY AND SCIENCE   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

Author keywords

Gout; HPRT; Mutation; Taiwan

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ARTICLE; DNA DETERMINATION; ENZYME ACTIVITY; EXON; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GOUT; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; OUTPATIENT; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TAIWAN;

ADULT; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CROSS-SECTIONAL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GOUT; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TAIWAN;

EID: 34247394668     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Chou CT, Pei L, Chang DM, Lee CF, Schumacher HR, Liang MH. Prevalence of rheumatic diseases in Taiwan: a population study of urban, suburban, rural differences. J Rheumatol 1994;21:302-6.
2. Chang SJ, Ko YC, Wang TN, Chang FT, Cinkotai FF, Chen CJ. High prevalence of gout and related risk factors in Taiwan's Aborigines. J Rheumatol 1997;24:1364-9.
3. Tsou) from a Taiwanese aboriginal family with severe gout. J Rheumatol 1999;26:1802-7.
4. Sakuma R, Nishina T, Kitamura M, Yamanaka H, Kamatani N, Nishioka K. Screening for adenine and hypoxanthine phosphoribosyltransferase deficiencies in human erythrocytes by high-performance liquid chromatography. Clin Chim Acta 1987;170:281-9.
5. Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 1992;90:379-84.
6. Hennessy LK, Teare J, Ko C. PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations. Clin Chem 1998;44:879-82.
7. Jinnah HA, Harris JC, Nyhan WL, O'Neill JP. The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids 2004;23:1153-60.
8. Yu TF, Balis ME, Krenitsky TA, et al. Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. Ann Intern Med 1972;76:255-64.
9. Lee WJ, Lee HM, Chi CS, Yang MT, Lin HY, Lin WH. Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family. Zhonghua Yi Xue Za Zhi (Taipei) 1995;56:359-66.
10. Mak BS, Chi CS, Tsai CR, Lee WJ, Lin HY. New mutations of the HPRT gene in Lesch-Nyhan syndrome. Pediatr Neurol 2000;23:332-5.