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. 2001;1(3):114–121. doi: 10.1155/S1110724301000250

Figure 3.

Figure 3

Detection of mutations in Tunisian LAD patients CD18 and cDNA. The DNA sequences shown were performed on cloned PCR products obtained by RT/PCR of the patients PBMC total RNA. (a) Nucleotide sequence showing the deletion of a single G (1920delG) in the glycine codon at position 640 causing a frame shift introducing a stop codon 16 residues downstream. The mutated CD18 protein ends as following: GPFGFS RTAARRVRPCSCRTTP• (b) Detection of the G (1497delG) in the aspartic acid at position 500, causing a frame shift and a stop codon 28 residues downstream. The CD18 protein is truncated as following: SCRKFS TTTPSS AQGWRTVSAG SACATPATSPAS• (c) The C to T transition causing the substitution Arg 593 by Cyst detected in patient K is indicated by an asterisk. (d) Nucleotide sequence showing the missense mutation that affects residue 284 of the Cd18 in patients S and S changing a C into a G. FS = frame shift.