Premium
Alpha‐1‐antitrypsin protease inhibitor (Pi) phenotypes in Down's syndrome patients and their parents
Author(s) -
Bufton Linda,
Magenis R. Ellen,
Lovrien Everett W.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb02073.x
Subject(s) - phenotype , protease inhibitor (pharmacology) , pi , genetics , protease , biology , microbiology and biotechnology , medicine , enzyme , biochemistry , gene , virus , antiretroviral therapy , viral load
Alpha‐1‐antitrypsin was examined in the serum from 121 Down's syndrome families. Variant phenotypes (non‐M) were increased in frequency in parents (15 %) and in their affected children (19 %) compared to frequencies of 8–10 % in two control groups (p < 0.001). Variant parental Pi phenotypes were found in 19 mothers and 10 fathers of Down's patients. Parental origin of the extra chromosome 21 was known in 34 families and was maternal in 26 instances. In seven families where parental origin of the extra chromosome was known, a variant Pi phenotype was inherited from the parent contributing the extra chromosome in four families and from the parent not contributing the extra chromosome in three families, indicating that there is no simple correlation between the Pi variant and nondisjunction. The increase in Pi variants in Down's syndrome families was independent of maternal age.