[Detection and analysis of Fas gene (exon 1-6) mutations in keloids].
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.


CONCLUSIONS
Nonfunction of Fas protein may be related to aberrant gene structure that codes for the transmembrane domain.
Liu
Yong-Bo
YB
Department of Plastic Surgery, Nanfang Hospital, First Military Medical University, Guangzhou 510515, China.
Gao
Jian-Hua
JH
Duan
Hong-Jie
HJ
D000328:Adult; D004247:DNA / Q000032:analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007627:Keloid / Q000235:genetics*; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D019014:fas Receptor / Q000032:analysis / Q000235:genetics*
D019014:fas Receptor; D004247:DNA