Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

European Journal of Human Genetics

Volumn 8, Issue 12, 2000, Pages 933-938

  Olsson, Charlotta ^a   Waldenström, Erik ^a   Westermark, Kerstin ^a   Landegren, Ulf ^a   Syvänen, Ann Christine ^a,b  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

ATP7B gene; DNA pools; Minisequencing; Single nucleotide polymorphisms; Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER; DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOACCUMULATION; BRAIN; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; ION TRANSPORT; LIVER; MUTANT; PREVALENCE; PRIORITY JOURNAL; QUANTITATIVE GENETICS; SAMPLE; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ALLELES; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; HEPATOLENTICULAR DEGENERATION; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; REFERENCE STANDARDS; SWEDEN;

EID: 0034500466     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200566     Document Type: Article

References (22)

1. Wilson disease and Menkes disease: New handles on heavy-metal transport
2. The metabolic basis of inherited disease
3. Wilson disease in 1998: Genetic, diagnostic and therapeutic aspects
4. Long range restriction mapping of 13q14.3 focused on the Wilson disease region
5. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
6. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
7. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
8. Efficient detection of mutations in Wilson disease by manifold sequencing
9. ATP7B (WND) protein
10. The Wilson disease gene: Spectrum of mutations and their consequences
11. Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing
12. A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation
13. Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes
14. A 4-Mb high-density single nucleotide polymorphism-based map around human APOE
15. Analysis of the p53 tumor suppressor gene by pyrosequencing
16. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
17. From gels to chips: 'Minisequencing' primer extension for analysis of point mutations and single nucleotide polymorphisms
18. A consortium plans free SNP map of human genome
19. Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: Studies of the HLA class II loci
20. Quantitative trait locus mapping in dairy cattle by means of selective milk DNA pooling using dinucleotide microsatellite markers: Analysis of milk protein percentage
21. Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples
22. Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes