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Rett syndrome and genetic drift.
Journal article

Rett syndrome and genetic drift.

  • 1999-06-18
Published in:
  • Brain & development. - 1999
Alleles
Female
Gene Frequency
Genes, Recessive
Genetic Carrier Screening
Genomic Imprinting
Genotype
Humans
Male
Models, Genetic
Rett Syndrome
X Chromosome
English An X chromosome gene is assumed to be responsible for the cause of Rett syndrome (RS). However, new genealogical observations suggest involvement of autosomal recessive gene(s) as well, at least in familial cases. To account for these and other recent observations, the theoretical model presented in 1990 by the authors of this paper is applied to the calculation of gene frequencies. Observed frequencies of sporadic and familial cases of RS are used, taking into account genetic drift in inbreeded areas. Moreover, an attempt is made to use the proportion of RS variants in familial and sporadic cases for the explanation of so called 'formes frustes', and as evidence for the existence of female as well as male carriers. The estimated frequency of the recessive autosome mutation, or possibly a frequent polymorphism, is 22.5%.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/45415
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