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[Detection and analysis of Fas gene (exon 1-6) mutations in keloids]
Yong-Bo Liu1, Jian-Hua Gao, Hong-Jie Duan
1Department of Plastic Surgery, Nanfang Hospital, First Military Medical University, Guangzhou 510515, China.
Objective:
To detect Fas DNA mutations (exon 1-6) in the fibroblasts of patients with keloids, thereby to understand the clinicopathological implications of altered structure of the keloids.
Methods:
PCR followed by single-strand conformational polymorphism analysis and direct DNA sequencing were used to detect Fas gene mutations in 15 patients with keloids.
Results:
Insertion and point mutations were identified on the boundary between intron 5 and exon 6 in two patients, while no Fas mutations were found in the fibroblasts derived from normal skin samples of any of the patients.
Conclusion:
Nonfunction of Fas protein may be related to aberrant gene structure that codes for the transmembrane domain.