Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction

Genetic Testing and Molecular Biomarkers

Volumn 17, Issue 5, 2013, Pages 438-442

  Jiang, Wenting ^a,b   Ji, Xing ^a,b   Xu, Yan ^a,b   Qu, Xiaoxing ^a,b   Sun, Wei ^a,b   Yang, Zujing ^a,b   Tao, Jiong ^a,b   Chen, Yingwei ^a,b  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Institute for Pediatric Research   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; HUMAN; MICROSATELLITE MARKER; MOLECULAR DIAGNOSIS; MOTONEURON; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT TANDEM REPEAT; SPINAL MUSCULAR ATROPHY;

ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; PRENATAL DIAGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84876940754     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2012.0481     Document Type: Article

References (18)

1. Brzustowicz LM, Lehner T, Castilla LH, et al. (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344:540-541.
2. Cusco I, Barcelo MJ, del Rio E, et al. (2001) Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homo-zygous and compound heterozygous cases. Hum Genet 108: 222-229.
3. D'Amico A, Mercuri E, Tiziano FD, et al. (2011) Spinal muscular atrophy. Orphanet J Rare Dis 6:71.
4. Donnelly EM, Boulis NM (2012) Update on gene and stem cell therapy approaches for spinal muscular atrophy. Expert Opin Biol Ther 12:1463-1471.
5. Essawi ML, Al-Attribi GM, Gaber KR, et al. (2012) Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs). Gene 509:120-123.
6. Essawi ML, Effat LK, Shanab GM, et al. (2007) Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy. Bratisl Lek Listy 108:133-137.
7. Lee TM, Kim SW, Lee KS, et al. (2004) Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. J Korean Med Sci 19:870-873.
8. Lefebvre S, Burglen L, Reboullet S, et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165.
9. Melki J, Sheth P, Abdelhak S, et al. (1990) Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet 336: 271-273.
10. Ogino S, Leonard DG, Rennert H, et al. (2002) Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn 4:53-58.
11. Scheffer H, Cobben JM, Matthijs G, et al. (2001) Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet 9:484-491.
12. Sheng-Yuan Z, Xiong F, Chen YJ, et al. (2010) Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. Eur J Hum Genet 18:978-984.
13. Su YN, Hung CC, Lin SY, et al. (2011) Carrier screening for spinal muscular atrophy (SMA) in 107, 611 pregnant women during the period 2005-2009: a prospective population-based cohort study. PLoS One 6:e17067.
14. Sugarman EA, Nagan N, Zhu H, et al. (2012) Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72, 400 specimens. Eur J Hum Genet 20:27-32.
15. Sun W, Shen JW, Long F, et al. (2010) Selection of short tandem repeats and their application in linkage analysis for prenatal diagnosis of spinal muscular atrophy. J Shanghai Jiaotong Univ (Med Sci) 30:707-712.
16. van der Steege G, Draaijers TG, Grootscholten PM, et al. (1995) A provisional transcript map of the spinal muscular atrophy (SMA) critical region. Eur J Hum Genet 3:87-95.
17. Vitte J, Fassier C, Tiziano FD, et al. (2007) Refined characterization of the expression and stability of the SMN gene products. Am J Pathol 171:1269-1280.
18. Wirth B (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15:228-237.