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Genetic analysis and expression of SURF1 gene variants in Case 2. (A) The probands 2 (P2) intronic variant c.515 + 3G > C caused abnormal splicing of the SURF1 gene, leading to the deletion of exon 5. (B) The expression level of the SURF1 gene in probands 2 (P2) was significantly lower than those in their parents. (C) PCR results of <t>cDNA</t> from the nuclear family of probands 2 (P2), the amplicon in the proband was shorter than the corresponding bands in the parents.
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Genetic analysis and expression of SURF1 gene variants in Case 2. (A) The probands 2 (P2) intronic variant c.515 + 3G > C caused abnormal splicing of the SURF1 gene, leading to the deletion of exon 5. (B) The expression level of the SURF1 gene in probands 2 (P2) was significantly lower than those in their parents. (C) PCR results of cDNA from the nuclear family of probands 2 (P2), the amplicon in the proband was shorter than the corresponding bands in the parents.

Journal: Frontiers in Neurology

Article Title: Study on Leigh syndrome caused by SURF1 gene mutations and its mechanisms

doi: 10.3389/fneur.2026.1793054

Figure Lengend Snippet: Genetic analysis and expression of SURF1 gene variants in Case 2. (A) The probands 2 (P2) intronic variant c.515 + 3G > C caused abnormal splicing of the SURF1 gene, leading to the deletion of exon 5. (B) The expression level of the SURF1 gene in probands 2 (P2) was significantly lower than those in their parents. (C) PCR results of cDNA from the nuclear family of probands 2 (P2), the amplicon in the proband was shorter than the corresponding bands in the parents.

Article Snippet: Total RNA was extracted from patients and their parents using the Qiagen RNA Preparation Kit, and complementary DNA (cDNA) was synthesized by reverse transcription using the PrimeScriptTM Strand cDNA Synthesis Kit/RT Master Mix (TAKARA).

Techniques: Expressing, Variant Assay, Amplification