[Experimental study on fas gene death domain mutations in keloid pedigrees].
OBJECTIVE
To detect gene mutations of Fas gene death domain (exons 79) in 2 Chinese keloid pedigrees and to investigate the significance of Fa gene mutations in the keloid formation.


METHODS
The samples were selected from keloid pedigrees A and B in 2005. The polymerase chain reaction and DNA sequencing analysis technique were used to detect the sequence of exons 7-9 of Fas gene from keloid tissues of 2 male patients in pedigree A, their peripheral vein blood and their surrounding normal skin served as their own contrast, their spouses' peripheral vein blood served as normal contrast, the peripheral vein blood of 2 patients in pedigree B served as a contrast between different keloid pedigrees.


RESULTS
No gene mutations and single nucleotide polymorphism in Fas gene exons 7, 8 were found in all samples from pedigrees A and B. But point mutations and single nucleotide polymorphism in Fas gene exon 9 were identified in 11 bp and 53 bp in 2 keloid tissue samples from Chinese keloid pedigree A.


CONCLUSIONS
Fas gene point mutations maybe indicate some relations in Fas protein function and keloid formation.
Liu
Xiaojun
X
lxjun_ok@126.com
Gao
Jianhua
J
Li
Xuelei
X
D016923:Cell Death / Q000235:genetics; D004247:DNA / Q000032:analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007627:Keloid / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D019014:fas Receptor / Q000032:analysis / Q000235:genetics*
D019014:fas Receptor; D004247:DNA