In contrast to the fact that alpha1-antitrypsin (alpha1-AT) deficiency is one of the most common hereditary disorders of Caucasians, deficient variants among Orientals have been recognized to be extremely rare.
Only 12 cases of alpha1-AT deficiency have been reported in Japan, including five cases in which the genetic defects have already been elucidated.
We examined five of seven available families for which the genetic defects causing alpha1-AT deficiency have not yet been explored.
When the allele-specific polymerase chain reaction (PCR) was performed with a pair of oligonucleotide primers having the mutated base sequence of the alpha1-AT Siiyama allele at the 3'end, all eight cases of alpha1-AT deficiency among five unrelated families turned out to be homozygous carriers of the alpha1-AT Siiyama mutation.
Furthermore, haplotype analyses based on the amino acid substitutions noted in the normal alpha1-AT variants revealed the amino acid sequence Arg101-Val213-Glu376, indicating that these families share a common deficient haplotype.
Thus, seven of 10 families examined so far (five in the present study, one in a previous study, and one additional case analyzed by another group) carry the alpha1-AT Siiyama deficient variant.
To date, only the Z and S variants are known to show the same clustering as alpha1-AT Siiyama.
Furthermore, Siiyama is the first prevalent alpha1-AT deficient variant identified in a human race other than the Caucasian race.
Mots-clés Pascal : Déficit, alpha1-Antitrypsine, Japon, Asie, Epidémiologie, Déterminisme génétique, Homme, Ethnie, Mongoloïde, Glycoprotéine, Métabolisme pathologie, Maladie héréditaire, Enzymopathie
Mots-clés Pascal anglais : Deficiency, alpha1-Antitrypsin, Japan, Asia, Epidemiology, Genetic inheritance, Human, Ethnic group, Mongoloid, Glycoproteins, Metabolic diseases, Genetic disease, Enzymopathy
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0030902
Code Inist : 002B22D04. Création : 01/03/1996.