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Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
Am J Hum Genet 2002; 70(2):358-68AJ

Abstract

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future. We present a new, fast, and highly reliable quantitative test, based on real-time LightCycler PCR that amplifies either SMN1 or SMN2. The SMN1 copies were determined and validated in 329 carriers and controls. The specificity of the test is 100%, whereas the sensitivity is 96.2%. The quantitative analysis of SMN2 copies in 375 patients with type I, type II, or type III SMA showed a significant correlation between SMN2 copy number and type of SMA as well as duration of survival. Thus, 80% of patients with type I SMA carry one or two SMN2 copies, and 82% of patients with type II SMA carry three SMN2 copies, whereas 96% of patients with type III SMA carry three or four SMN2 copies. Among 113 patients with type I SMA, 9 with one SMN2 copy lived <11 mo, 88/94 with two SMN2 copies lived <21 mo, and 8/10 with three SMN2 copies lived 33-66 mo. On the basis of SMN2 copy number, we calculated the posterior probability that a child with homozygous absence of SMN1 will develop type I, type II, or type III SMA.

Authors+Show Affiliations

Institute of Human Genetics, University Clinic, Rheinische Friedrich-Wilhelms University Bonn, Bonn, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11791208

Citation

Feldkötter, Markus, et al. "Quantitative Analyses of SMN1 and SMN2 Based On Real-time lightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy." American Journal of Human Genetics, vol. 70, no. 2, 2002, pp. 358-68.
Feldkötter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002;70(2):358-68.
Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T. F., & Wirth, B. (2002). Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. American Journal of Human Genetics, 70(2), pp. 358-68.
Feldkötter M, et al. Quantitative Analyses of SMN1 and SMN2 Based On Real-time lightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy. Am J Hum Genet. 2002;70(2):358-68. PubMed PMID: 11791208.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. AU - Feldkötter,Markus, AU - Schwarzer,Verena, AU - Wirth,Radu, AU - Wienker,Thomas F, AU - Wirth,Brunhilde, Y1 - 2001/12/21/ PY - 2001/09/27/received PY - 2001/11/07/accepted PY - 2002/1/16/pubmed PY - 2002/2/28/medline PY - 2002/1/16/entrez SP - 358 EP - 68 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 70 IS - 2 N2 - Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future. We present a new, fast, and highly reliable quantitative test, based on real-time LightCycler PCR that amplifies either SMN1 or SMN2. The SMN1 copies were determined and validated in 329 carriers and controls. The specificity of the test is 100%, whereas the sensitivity is 96.2%. The quantitative analysis of SMN2 copies in 375 patients with type I, type II, or type III SMA showed a significant correlation between SMN2 copy number and type of SMA as well as duration of survival. Thus, 80% of patients with type I SMA carry one or two SMN2 copies, and 82% of patients with type II SMA carry three SMN2 copies, whereas 96% of patients with type III SMA carry three or four SMN2 copies. Among 113 patients with type I SMA, 9 with one SMN2 copy lived <11 mo, 88/94 with two SMN2 copies lived <21 mo, and 8/10 with three SMN2 copies lived 33-66 mo. On the basis of SMN2 copy number, we calculated the posterior probability that a child with homozygous absence of SMN1 will develop type I, type II, or type III SMA. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/11791208/Quantitative_analyses_of_SMN1_and_SMN2_based_on_real_time_lightCycler_PCR:_fast_and_highly_reliable_carrier_testing_and_prediction_of_severity_of_spinal_muscular_atrophy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63951-2 DB - PRIME DP - Unbound Medicine ER -