what is FMR1 ?

FMR1: A gene on the X chromosome that encodes instructions for building the Fragile X Mental Retardation Protein (FMRP). A mutation in this gene causes the Fragile X syndrome.

what is CGG repeat ?

CGG repeat: A string of 3 bases that are usually repeated seven to 55 times in a row at the beginning of the FMR1 gene. The inactivation of this gene causes Fragile X. In people with Fragile X, the CGC triplet is repeated 200 times or more.

fragile x syndrome glossary

Fragile x syndrome glossary, terms and keywords:

Adenine: One of the four bases that make up DNA. Abbreviated with an 'A'.
Carrier: A person that carries a gene that causes a disorder, but does not show symptoms.
Chromosome: Chromosomes are packages of DNA found in the nucleus of cells. Humans have 46 chromosomes.

Cytosine: One of the four bases that make up DNA. Abbreviated with a 'C'.

DNA: Short for deoxyribonucleic acid, DNA is the molecule that carries genetic information.

Full mutation: A mutation in the FMR1 gene with 200 or more CGG repeats.

FMRP: A protein involved in the maturation of neurons in the brain. People with Fragile X lack this protein.

Gene: A portion of DNA that contains instructions for making a protein.

Genotype: The genetic composition of a person. Usually used when considering one gene or chromosome (eg males have a XY genotype, females have a XX).

Guanine: One of the four bases that make up DNA. Abbreviated with a 'G'.

Methyl group: A small molecule that turns off the FMR1 gene in people with Fragile X.

Mutation: A change in the sequence of a gene.

PCR test: A genetic test used to detect pre-mutations in a person's DNA.

Punnett square: A method of showing the potential offspring of two parents.

Sex chromosome: Chromosomes (X and Y) that determine an individual's gender.

Southern blot test: A genetic test that detects full mutations in a person's DNA.

Thymine: One of the four bases that make up DNA. Abbreviated with a 'T'.

Transmitting male: With reference to Fragile X, a transmitting male has a pre-mutation that he has passed to his daughter.

X-inactivation: A process in female mammals in which one of the two X chromosomes is "turned off."

fragile x syndrome and autism

Do You Know What Fragile X Is?
this is good video about fragile x
difference and ties between fragile x syndrome autism..

fragile x syndrome filetype pdf

fragile x syndrome filetype pdf: more information about fragile x sydrome there is a pdf online e-book on this site: please click here to download pdf document type of book now

Fragile X Documentary

fragile x syndrome

Created by Justin S., Julie and Brianna, students at the University of Missouri - Columbia for Genetic Diseases, Bio 2002, WS07