Alpha 1-antitrypsin and sex chromosome abnormalities

ABSTRACT

Serum levels of Alpha-I-antitrypsin were determined in 63 individuals 14 cases of Turner syndrome, 16 cases with Klinefelter syndrome [all our cases had normal mentality], 10 normal age-matched females and 10 normal age-matched males. A group of parents of the cases was studied [10 mothers and 3 fathers]. A statistically high significant decrease of alpha-I -antitrypsin was detected in cases with sex chromosome abnormalities as compared to the control group [P < 0.001]. No significant difference was detected in our study in serum level of alpha-I-antitrypsin in parents as compared to control group [P > 0.05]. No significant difference was found between serum level of alpha-I- antitrypsin in both Turner and Klinefelter syndrome cases. We conclude that alpha-I-antitrypsin may have a role in the development of sex chromosomal abnormalities. Experimental approach on the molecular and cytogenetic level may be needed to prove the underlying mechanism during cell division