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Carrier incidence for spinal muscular atrophy in southern Chinese

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Abstract.

A real time quantitative PCR (QPCR) method using TaqMan technology was used to assess the copy number of the two survival motor neuron genes (SMN1 and SMN2) on chromosome 5q13. This allows the accurate determination of carriers for spinal muscular atrophy (SMA), with one copy of SMN1. Analysis of 569 normal southern Chinese individuals revealed a carrier incidence of 1.6%, similar to that found in the western society. Study of 42 obligatory carriers showed a (2 + 0) genotype in two (4.8 %). In 27 SMA patients with homozygous deletion of the SMN1 gene, the number of SMN2 gene correlated with disease phenotype, with 68% of type II and III patients carrying three or more SMN2 genes, whilst the incidence of three or more SMN2 genes in the normal population was 1.57%.

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Authors and Affiliations

  1. University Department of Medicine, Queen Mary Hospital, Pokfulam Road, Hong Kong

    Vivian Chan, Ben Yip, Irene Yam, Patrick Au & Tai-Kwong Chan

  2. Department of Paediatrics & Adolescent Medicine, Queen Mary Hospital, Hong Kong

    Virginia Wong

  3. Hong Kong Red Cross Blood Transfusion Service, Hong Kong

    Che-Kit Lin

Authors
  1. Vivian Chan
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  2. Ben Yip
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  3. Irene Yam
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  4. Patrick Au
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  5. Che-Kit Lin
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  6. Virginia Wong
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  7. Tai-Kwong Chan
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Correspondence to Vivian Chan.

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Chan, V., Yip, B., Yam, I. et al. Carrier incidence for spinal muscular atrophy in southern Chinese. J Neurol 251, 1089–1093 (2004). https://doi.org/10.1007/s00415-004-0487-z

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  • DOI: https://doi.org/10.1007/s00415-004-0487-z

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