ISSN:
1432-1459
Keywords:
Key words Spinal muscular atrophy
;
Survival motor neuron gene
;
cBCD541 gene
;
Competitive oligonucleotide priming polymerase chain reaction
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Most spinal muscular atrophy (SMA) patients lack the survival motor neuron gene (SMN). However, the patients retain at least one copy of the c BCD541 gene (BCD), which is highly homologous with SMN. Here, we determined the SMN/BCD copy number ratios (the S/B ratios) of 12 parents of Japanese SMA patients with a homozygous SMN deletion, using competitive oligonucleotide priming polymerase chain reaction. We identified an S/B ratio of 2 in 25% of the parents examined, whereas less than 2% of parents of SMA patients in Western populations have an S/B ratio of 2. The high incidence of an S/B ratio of 2 in Japanese parents of SMA patients may reflect the characteristic genetic background of SMA in Japan.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004150050305
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