A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males

Human Mutation

Volumn 18, Issue 2, 2001, Pages 157-162

  Santos, C B ^a   Costa Lima, M A ^a   Pimentel, M M G ^a  

^a STATE UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

FMR2; Fragile sites; FRAXE; Mental retardation, X linked; PCR diagnosis; Triplet repeat

Indexed keywords

ALLELE; AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME XQ; CONTROLLED STUDY; CPG ISLAND; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FRAGILE X SYNDROME; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; METHYLATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

ALLELES; BLOTTING, SOUTHERN; CPG ISLANDS; FRAGILE X SYNDROME; GENETIC SCREENING; HUMANS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; TRANS-ACTIVATORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0034897807     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1165     Document Type: Article

References (22)

1. Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: Analysis of four FRAXE families with mild mental retardation in males
2. The FRAXE syndrome: Is it time for routine screening?
3. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population
4. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
5. Cloning of FMR2: A gene associated with FRAXE mental retardation
6. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
7. A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males
8. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic and molecular data
9. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
10. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap
11. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom
12. A simple salting out procedure for extracting DNA from human nucleated cells
13. Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
14. The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission
15. Fragile X syndrome: The molecular picture comes into focus
16. A simple multiplex FRAXA, FRAXE and FRAXF PCR assay convenient for wide screening programs
17. Characterization of a new rare fragile site easily confused with the fragile X
18. A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci
19. The effect of temperature and oligonucleotide primer length on the specificity and efficacy of amplification by the polymerase chain reaction
20. FRAXA and FRAXE: The results of a five year survey
21. A survey of FRAXE allele sizes in three populations