Question 1

What is the Meaning of CAG Repeat Score?

Accepted Answer

The CAG Repeat Score quantifies a specific trinucleotide sequence, cytosine-adenine-guanine (CAG), within a gene's coding region. This genetic marker denotes the polyglutamine tract's length in the resulting protein, influencing its function. Its measurement offers insight into genetic predispositions impacting physiological systems.

Question 2

What is the Context of CAG Repeat Score?

Accepted Answer

This genetic characteristic functions within human genetics, concerning gene expression and protein structure. CAG repeats are present in numerous genes, including the androgen receptor (AR) gene, crucial for hormonal signaling. The length of these repeats in the AR gene modulates an individual's sensitivity to androgens, affecting endocrine function and overall health.

Question 3

What is the Significance of CAG Repeat Score?

Accepted Answer

Clinically, the CAG Repeat Score, particularly for the androgen receptor gene, is crucial for understanding individual hormonal response variability. Longer CAG repeats often correlate with reduced androgen receptor activity, impacting prostate health, male fertility, and androgen-related symptoms in females, like those in polycystic ovary syndrome. This score supports personalized diagnostic and therapeutic strategies.

Question 4

What is the Mechanism of CAG Repeat Score?

Accepted Answer

At a molecular level, the CAG trinucleotide sequence codes for glutamine. An expansion in these repeats leads to an elongated polyglutamine tract within the protein. For the androgen receptor, this extended region can alter conformational stability, impair its ability to bind androgens, and reduce its efficiency in regulating target gene transcription. This impacts the entire signaling cascade.

Question 5

What is the Application of CAG Repeat Score?

Accepted Answer

The CAG Repeat Score is determined through specialized genetic testing, typically utilizing DNA from blood or saliva samples. This test is applied in clinical practice to assess an individual's genetic susceptibility to conditions influenced by androgen signaling. Results guide clinicians in evaluating potential causes for hormonal imbalances, male infertility, or specific prostate conditions, informing tailored patient management.

Question 6

What is the Metric of CAG Repeat Score?

Accepted Answer

The measurement of the CAG Repeat Score is quantitative, yielding a precise numerical value representing the exact number of CAG repeats within the gene of interest. Techniques like polymerase chain reaction (PCR) followed by fragment analysis or direct DNA sequencing ascertain this count. The reported number directly indicates the polyglutamine tract's length.

Question 7

What is the Risk of CAG Repeat Score?

Accepted Answer

While the CAG Repeat Score itself poses no inherent physical risk, its interpretation carries important considerations. Misunderstanding the clinical significance of the score without appropriate genetic counseling can lead to undue anxiety or potentially misdirected medical interventions. Furthermore, genetic information has implications for family members, necessitating careful communication and ethical considerations in its application and disclosure.

CAG Repeat Score

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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