Question 1

What is the Meaning of XPA Gene?

Accepted Answer

The XPA gene, or Xeroderma Pigmentosum complementation group A, provides instructions for making a protein essential for DNA repair. This protein plays a critical role in safeguarding the genome from damage induced by environmental agents. Its proper function is fundamental for maintaining cellular integrity.

Question 2

What is the Context of XPA Gene?

Accepted Answer

Within the cellular machinery, the XPA gene product is a key component of the Nucleotide Excision Repair (NER) pathway. This robust DNA repair system primarily addresses bulky DNA lesions, such as those caused by ultraviolet (UV) radiation from sunlight or certain chemical carcinogens. It operates across various cell types, serving as a universal cellular defense mechanism.

Question 3

What is the Significance of XPA Gene?

Accepted Answer

Clinically, the XPA gene holds substantial importance due to its direct link to Xeroderma Pigmentosum, a rare autosomal recessive disorder. Individuals with mutations in this gene exhibit extreme photosensitivity, experiencing severe sunburns and a drastically elevated lifetime risk of developing skin cancers, including melanoma, at an early age. Understanding its status informs patient management and risk assessment.

Question 4

What is the Mechanism of XPA Gene?

Accepted Answer

The XPA protein functions as an initial damage recognition factor within the NER pathway. It selectively binds to damaged DNA sites that cause distortions in the double helix, acting as a crucial sensor. Following this binding, XPA facilitates the recruitment of other repair proteins, initiating the excision of the damaged DNA segment and subsequent accurate resynthesis of the missing nucleotides.

Question 5

What is the Application of XPA Gene?

Accepted Answer

In clinical practice, genetic testing for XPA gene mutations confirms the diagnosis of Xeroderma Pigmentosum, guiding appropriate medical interventions. For affected individuals, diligent sun protection, regular dermatological surveillance, and prompt treatment of any suspicious skin lesions are paramount. This knowledge aids in developing personalized preventative strategies and improving patient outcomes.

Question 6

What is the Metric of XPA Gene?

Accepted Answer

Assessment of XPA gene function or mutation status typically involves molecular genetic testing. This includes sequencing the XPA gene to identify pathogenic variants. Beyond genetic analysis, cellular assays like unscheduled DNA synthesis (UDS) can quantify the overall DNA repair capacity in patient cells, providing a functional measure of NER pathway integrity.

Question 7

What is the Risk of XPA Gene?

Accepted Answer

Impaired function or absence of the XPA protein, resulting from gene mutations, leads to a profound deficiency in DNA repair. This deficiency leaves cells vulnerable to accumulated DNA damage, particularly from UV exposure. Consequently, individuals face an extraordinarily high risk of developing multiple skin cancers and, in some cases, progressive neurological abnormalities, necessitating vigilant clinical monitoring.

XPA Gene

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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