Mutation analysis of BrCA1, BrCA2, and p53 versus soluble HLA class I and class II in a case of familial endometriosis.
OBJECTIVE
To investigate possible correlation(s) between mutations of BrCA1, BrCA2, and p53 genes versus soluble HLA expression in familial endometriosis.


METHODS
Mutation analysis.


METHODS
University teaching departments and hospital.


METHODS
A family with seven women in two generations with familial endometriosis.


METHODS
Mutation analysis of BrCA1, BrCA2, and p53 genes.


METHODS
A point mutation of the BrCA1 gene appears to inhibit soluble HLA secretion.


RESULTS
Among the three genes examined, only the BrCA1 gene showed a T to A mutation at position 3232 that correlates with total abolishment of both class I and class II antigen release.


CONCLUSIONS
A possible correlation between a BrCA1 mutation and soluble HLA expression appears to exist. The mutation is not stage dependent and seemingly influences the secretion of both class I and class II antigens that are totally absent from the serum of only one family member.
Goumenou
Anastasia G
AG
Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece.
Vassiliadis
Simon
S
Matalliotakis
Ioannis M
IM
Koumantakis
Evgenios G
EG
Lembessis
Panayiotis
P
Koutsilieris
Michael
M
D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004715:Endometriosis / Q000235:genetics*; D005091:Exons; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D016158:Genes, p53; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008285:Major Histocompatibility Complex; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D015395:Histocompatibility Antigens Class I; D000949:Histocompatibility Antigens Class II