Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes

Genetic Testing

Volumn 4, Issue 4, 2000, Pages 351-358

  Ward, C P ^a   Fensom, A H ^a   Green, P M ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TAQ POLYMERASE;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA PROBE; EXON; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; INTRON; JEW; SEQUENCE ANALYSIS; TAY SACHS DISEASE;

ALLELES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA PROBES; EXONS; FLUORESCENT DYES; GENETIC SCREENING; GENOTYPE; HUMANS; INTRONS; JEWS; MUTATION; TAQ POLYMERASE; TAY-SACHS DISEASE;

EID: 0034496216     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065700750065081     Document Type: Article

References (14)

1. Automated detection of prevalent mutations in BRCA1 and BRCA2 genes using a fluorogenic PCR allelic discrimination assay
2. Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type 1a and medium-chain acyl-CoA dehydrogenase deficiency
3. Tay-Sachs disease: Carrier screening, prenatal diagnosis, and the molecular era
4. Frequency of Tay-Sachs disease splice site and insertion mutations ih the Ashkenazi Jewish population
5. β-Hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs carriers from the British Isles
6. Further investigation of the Hex A gene intron 9 donor slice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles
7. Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization
8. High-throughput single nucleotide polymorphism genotyping by fluorescent 5′ exonuclease assay
9. Splice junction mutation in some Ashkenazi Jews with Tays-Sachs disease: Evidence against in a single defect within this ethnic group
10. The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease
11. Semi automated fluorogenic PCR assays (TaqMan) for rapid detection of Escherichia coli 0157:H7 and other Shiga toxigenic E. coli
12. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
13. Screening for carriers of Tay-Sachs among Ashkenazi Jews - A comparison of DNA based and enzyme based tests
14. Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain