Reports summarize spinal muscular atrophy genetics research from L. Alias and co-authors
2007 NOV 5 -- A new study, 'Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy,' is now available. According to recent research published in the European Journal of Human Genetics, "Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterised by degeneration and loss of the motor neurons of the anterior horn of the spinal cord. The absence of SMN1 is determinant to have SMA and parents of SMA patients are regarded as carriers of the disease." "We compared the segregation ratio of the mutated allele and the wild-type allele of all the confirmed carrier parents assuming Mendelian proportions. Results of transmissions in 235 prenatal tests and in 128 unaffected siblings showed a statistically significant deviation in favour of the wild-type SMN1 allele. The number of affected foetuses and carriers were lower than that expected. No significant differences in the sex ratio or in the progenitor origin of the transmitted allele to the carriers were found. One hypothesis that has been advanced to account for the distortion observed in affected foetuses is the negative postzygote selection due to early miscarriage," wrote L. Alias and colleagues, . The researchers concluded: "However, given that the number of carriers in our series was lower than expected, prezygote events such as meiotic drive, survival of gametes or preferential fertilisation should also be considered." Alias and colleagues published their study in European Journal of Human Genetics (Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy. European Journal of Human Genetics, 2007;15(10):1090-3). For additional information, contact L. Alias, Hospital de Sant Pau, Dept. of Genetics, Barcelona, Spain. The publisher's contact information for the European Journal of Human Genetics is: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England. Keywords: Spain, Barcelona, Spinal Muscular Atrophy Genetics, Charcot-Marie-Tooth Disease, Genetics, Neurology, Spinal Muscular Atrophy. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
|
