Question 1

What is the Meaning of FMR1 Gene?

Accepted Answer

The FMR1 gene, or Fragile X Mental Retardation 1 gene, provides critical instructions for creating a protein known as FMRP, which is essential for normal brain development and function. FMRP plays a regulatory role in the production of other proteins within brain cells.

Question 2

What is the Context of FMR1 Gene?

Accepted Answer

This gene primarily operates within the central nervous system, particularly in neuronal cells, where its protein product, FMRP, is involved in transporting messenger RNA (mRNA) and regulating protein synthesis at synaptic connections. FMRP influences synaptic plasticity, a fundamental biological process underlying learning and memory formation.

Question 3

What is the Significance of FMR1 Gene?

Accepted Answer

Clinically, variations in the FMR1 gene hold substantial significance as they are the direct cause of Fragile X Syndrome, recognized as the most common inherited form of intellectual disability. Moreover, specific FMR1 premutation expansions are associated with Fragile X-associated primary ovarian insufficiency (FXPOI) in females and Fragile X-associated tremor/ataxia syndrome (FXTAS) in older adults, impacting reproductive and neurological health outcomes.

Question 4

What is the Mechanism of FMR1 Gene?

Accepted Answer

The FMR1 gene exerts its effect primarily through the number of CGG trinucleotide repeats located in its 5' untranslated region. An abnormal expansion of these repeats, typically exceeding 200, leads to hypermethylation of the gene's promoter, effectively silencing the FMR1 gene and preventing FMRP production. Premutation alleles, containing 55-200 CGG repeats, do not silence the gene but can result in elevated FMR1 mRNA levels, contributing to distinct clinical manifestations.

Question 5

What is the Application of FMR1 Gene?

Accepted Answer

In clinical practice, FMR1 gene testing is routinely applied for diagnostic confirmation in individuals presenting with developmental delays, intellectual disability, or autism spectrum disorder. It is also utilized for carrier screening in families with a known history of Fragile X conditions and for evaluating the genetic basis of unexplained primary ovarian insufficiency or late-onset neurological symptoms consistent with FXTAS.

Question 6

What is the Metric of FMR1 Gene?

Accepted Answer

The primary metric for assessing the FMR1 gene involves molecular genetic testing to precisely determine the number of CGG repeats. Polymerase chain reaction (PCR) is frequently employed for initial screening of repeat sizes, while Southern blot analysis provides definitive sizing for larger expansions and assesses the gene's methylation status. These tests quantify the repeat length, classifying alleles as normal, intermediate, premutation, or full mutation for diagnostic and prognostic purposes.

Question 7

What is the Risk of FMR1 Gene?

Accepted Answer

Genetic testing for FMR1 gene variations inherently carries the risk of revealing sensitive genetic information that can have significant implications for an individual's health and family planning. Misinterpretation of results or inadequate genetic counseling can lead to undue anxiety or inappropriate medical decisions regarding reproductive choices or future health management. Identifying a premutation carrier status necessitates careful consideration of potential health risks for the individual and their offspring.

FMR1 Gene

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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