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Figure 2 | Journal of Biomedical Science

Figure 2

From: In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum

Figure 2

The XP family pedigree and DNA sequence analysis. (A) A multi-generation consanguineous Pakistani family in which XP is segregating as an autosomal recessive trait. Three affected individuals (IV-1, IV-2, IV-3) and two carrier parents (III-1, III-2 were analysed. (B) Direct sequencing of the PCR product amplified from exon 5 of XPA gene, revealed an adenine base deletion at position 654 (c.654 del A). The affected individuals are homozygous for this deletion (arrow), while the parents are heterozygous (carriers) having a normal allele as well as a mutant allele. (C) ARMS-PCR analysis also showed a heterozygous condition of both normal carrier parent and homozygous condition of all 3 affected individuals.

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