Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: Simultaneous detection of SMN1 and SMN2 deletion

Molecular and Cellular Probes

Volumn 24, Issue 3, 2010, Pages 138-141

  Baris, Ibrahim ^a   Etlik, Ozdal ^b   Koksal, Vedat ^b   Arican Baris, S Tugba ^b  

^a KOÇ UNIVERSITY   (Turkey)

^b BURC Molecular Diagnostic Laboratories   (Turkey)

Author keywords

SMA; SMN1; SMN2; Spinal muscular atrophy; Tetra primer ARMS PCR

Indexed keywords

CYTOSINE; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TYROSINE;

ACCURACY; AMINO ACID SUBSTITUTION; AMNION FLUID; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DEATH; DIAGNOSTIC VALUE; DISEASE SEVERITY; EXON; GENE DELETION; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY; SPINAL MUSCULAR ATROPHY;

DNA; DNA PRIMERS; ELECTROPHORESIS, AGAR GEL; FAMILY HEALTH; FEMALE; FETAL DISEASES; GENE DELETION; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

TETRA;

EID: 77952237145     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2009.12.001     Document Type: Article

References (21)

1. Ogino S., Wilson R.B. Genetic testing and risk assessment for spinal muscular atrophy. Hum Genet 2002, 111:477-500.
2. Feldkotter M., Schwarzer V., Wirth R., Wienker T.F., et al. Quantitative analyses of SMN1 and SMN2 based on real-time Light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002, 70:358-368.
3. Hendrickson B.C., Donohoe C., Akmaev V.R., Sugarman E.A., et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 2009, 46:641-644.
4. Munsat T., Davies K. International SMA consortium meeting. Neuromuscul Disord 1992, 2:423-428.
5. Lorson C.L., Hahnen E., Androphy E.J., Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999, 96:6307-6311.
6. Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000, 15:228-237.
7. Van der Steege G., Grootscholten P.M., Van der Vlies P., et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995, 345:985-986.
8. Pieri Pde C., Nogueira Jde A., Marques-Dias M.J., et al. A duplex allele-specific amplification PCR to detect SMN1 deletion. Genet Test Mol Biomarkers 2009, 13:205-208.
9. Lefebvre S., Burglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
10. Arkblad E.L., Darin N., Berg K., et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 2006, 16:830-838.
11. Anhuf D., Eggermann T., Rudnik-Schoneborn S., Zerres K. Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat 2003, 22:74-78.
12. Passon N., Pozzo F., Molinis C., et al. A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. Genet Test Mol Biomarkers 2009, 13:37-42.
13. Chen W.J., Dong W.J., Lin X.Z., et al. Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis. BMC Med Genet 2009, 10:45.
14. Wang C.C., Chang J.G., Ferrance J., et al. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis 2008, 29:2904-2911.
15. Kao H.Y., Su Y.N., Liao H.K., et al. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. Clin Chem 2006, 52:361-369.
16. Su Y.N., Hung C.C., Li H., et al. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum Mutat 2005, 25:460-467.
17. Ye S., Dhillon S., Ke X., et al. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 2001, 29:E-88.
18. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
19. Chang J.G., Jong Y.J., Lin S.P., et al. Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum Genet 1997, 100:577-581.
20. Koksal V., Etlik O., Arican-Baris S.T., Baris I. A tetra-primer polymerase chain reaction approach for the detection of JAK2 V617F mutation. Genet Test 2007, 11:463-466.
21. Etlik O., Koksal V., Arican-Baris S.Tugba, Baris I. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Mol Cell Probes 2008, 22:71-75.