Analysis of Xp22.31q27.1 Region Variation Detection based on SNP Array Technology.

Area of Science:

• Genetics
• Prenatal Diagnostics
• Molecular Biology

Background:

• Traditional chromosome karyotype analysis has limitations in detecting subtle genetic variations.
• The Xp22.31q27.1 region is a critical area for genetic variations.
• Advancements in molecular technologies are crucial for improving prenatal diagnostic accuracy.

Purpose of the Study:

• To evaluate the diagnostic utility of single nucleotide polymorphism array (SNP array) technology in prenatal diagnosis.
• To compare the detection capabilities of SNP array technology versus chromosome karyotype analysis.
• To identify chromosomal abnormalities in the Xp22.31q27.1 region using SNP array technology.

Main Methods:

• SNP array technology was employed to analyze variants in the Xp22.31q27.1 region of 13 fetuses.
• Chromosome karyotype analysis was performed on the fetuses and their parents for comparative assessment.
• Analysis included identifying gene content (OMIM genes) and inheritance patterns (maternal, paternal, de novo).

Main Results:

• Chromosome karyotype analysis revealed no obvious abnormalities at 400-band resolution.
• SNP array technology identified mutations in the Xp22.31q27.1 region in all 13 fetuses.
• The majority of mutations were Xp22.31 lesions (61.5%), involving 2-5 OMIM genes, with both deletions and duplications detected. Inheritance patterns included maternal, paternal, and de novo variants.

Conclusions:

• SNP array technology significantly enhances the detection of chromosomal microdeletions and microduplications compared to traditional karyotyping.
• SNP array technology serves as a powerful supplementary diagnostic method in clinical cytogenetics.
• This technology improves the accuracy and comprehensiveness of prenatal genetic screening.