• male premutation carriers
  • We used proton magnetic resonance spectroscopy to compare neuronal integrity of a number of brain metabolites including N-Acetyl Aspartate, Creatine + Phosphocreatinine, Choline, myoInositol, and Glutamate containing substances (Glx) in 17 male premutation carriers of FraX and 16 male healthy control individuals. (biomedcentral.com)
  • FMRP
  • the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. (jci.org)
  • FXTAS
  • But while we do not know what causes most cases of Parkinson's or Alzheimer's, we do know the specific trigger for all cases of FXTAS, since it is linked to the fragile X gene. (ucdavis.edu)
  • symptoms
  • It is not possible to look at a person's repeat number and predict at what age he or she will begin to have symptoms or how the condition will progress. (healthofchildren.com)
  • recessive
  • An autosomal recessive trait (disease) is expressed only when the mutant gene is present in a double dose (homozygous state). (glowm.com)
  • A recessive trait controlled by a gene on the X chromosome will be expressed in all males carrying the allele. (glowm.com)
  • traits
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • predominant
  • In two cases, iPSC clones contained predominant CGG-repeat lengths shorter than measured in corresponding input population of fibroblasts. (nih.gov)
  • molecular
  • With this exponential expansion of knowledge regarding the molecular basis for disease have come novel patterns of inheritance that challenge the basic principles of inheritance that have been taught for years. (glowm.com)
  • A growing number of molecular genetic studies aimed at identifying disease genes is now being added to this foundation of classical genetics. (acnp.org)
  • known
  • The letters stand for three nucleotides (complex organic molecules) known as cytosine, thymine, and guanine, and are repeated a certain number of times. (thefreedictionary.com)
  • Although
  • Although the transfer of a number of genes from these organelles to the nucleus prevents them from living independently, each still possesses genetic material in the form of double stranded DNA. (wikipedia.org)
  • Congenital myotonic dystrophy can also be inherited via the paternal gene, although it is said to be relatively rare. (wikipedia.org)
  • female
  • and (3) one-half the sons and daughters of a heterozygous female receive the mutant gene. (glowm.com)
  • disease
  • Widespread DNA polymorphism has been exploited through the use of restriction enzymes and, more recently, the polymerase chain reaction to create genetic markers and detect linkage to a growing list of human disease genes. (acnp.org)
  • Collaboration efforts are underway to collect pedigrees, bank cell lines, and search for genes contributing to schizophrenia, bipolar illness, alcoholism, and Alzheimer's disease. (acnp.org)
  • found
  • Indeed, a gene appeared to have been found when linkage was reported between bipolar illness and two DNA markers (HRAS and INS) on the short arm of chromosome 11 (21). (acnp.org)
  • region
  • Congenital myotonic dystrophy has been linked to a region on chromosome 7 that contains a muscle chloride channel gene. (thefreedictionary.com)
  • The RNA from the expanded trinucleotide repeat region forms intranucleoplasmic hairpin loops due to the extensive hydrogen bonding between C-G base pairs, and it has been demonstrated that these sequester the splicing regulator MBNL1 to form distinctive foci by labelling it with GFP and a probe oligonucleotide with the red-fluorescent dye Cyanine5 (Cy5) DM2 is caused by a defect of the CNBP gene on chromosome 3. (wikipedia.org)
  • numbers
  • Genes expressed in the brain are being cloned in large numbers and will ultimately be placed on the linkage map. (acnp.org)
  • typically
  • Such genetically isolated populations are ideal for linkage studies because their gene pools are typically more homogeneous than those of the general population. (acnp.org)