Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: Still a challenge [15]

Clinical Chemistry

Volumn 52, Issue 8, 2006, Pages 1621-1622

  Costa, Catherine ^a   Goossens, Michel ^a   Girodon, Emmanuelle ^a  

^a HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; AGENESIS; ALLELE; CFTR GENE; CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS; CYSTIC FIBROSIS; DNA DETERMINATION; EXON; GENE; GENOTYPE; HAPLOTYPE; HUMAN; HYBRIDIZATION; LABORATORY DIAGNOSIS; LETTER; MALE INFERTILITY; PENETRANCE;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HAPLOTYPES; HUMANS; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE PROBES; POLY G; POLY T;

EID: 33746620823     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.065383     Document Type: Letter

References (4)

1. Millson A, Pont-Kingdon G, Page S, Lyon E. Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes. Clin Chem 2005;51:1619-23.
2. Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004;74: 1322-5.
3. Costa C, Pissard S, Girodon E, Huot D, Goossens M. A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination. Mol Diagn 2003;7:45-8.
4. Lyon E. Discovering rare variants by use of melting temperature shifts seen in melting curve analysis. Clin Chem 2005;51:1331-2.