ALLELIC FREQUENCIES FOR ALA213/VAL213 POLYMORPHISM OF THE PI (ALPHA-1-ANTITRYPSIN) LOCUS IN A MOUNTAINOUS REGION OF MÉRIDA–VENEZUELA. ESTIMATION OF THE CAUCASOID CONTRIBUTION

Resumen

The Ala213/Val213 polymorphism of the PI locus was studied using PCR-RFLP in a sample of 33 genetically independent homozygous M1M1 individuals, with four grandparents, born in the Apartaderos geographic focus, a mountainous region of Mérida, Venezuela. The genotypic frequencies found were: Ala213/Ala213 homozygotes; 3% (one individual), Ala213/Val213 heterozygotes; 21% (7 individuals) and Val213/Val213 homozygotes; 76% (25 individuals). The allelic frequencies found were: 13.6% for the PI*M1(Ala213) allele and 86.4% for the PI*M1(Val213) allele. The reported frequencies for the PI*M1(Ala213) allele vary worldwide according to the ethnic group: 0.0% in Amerindians, 16.4 to 34.1% in Caucasoids and 54.0 to 73.1% in Negroids. The Caucasoid contribution to the sample studied was estimated at 40%.

KEY WORDS: Ala213/Val213, PI Locus, Alpha-1-antitrypsin, AAT, AAT Venezuela