ABSTRACT
La ley del equilibrio Hardy-Weinberg es la piedra angular de la genética de poblaciones y la genética cuantitativa; sin embargo, para su cálculo en autopoliploides hay que tener en cuenta que las frecuencias alélicas y gaméticas son diferentes, caso contrario que los diploides donde son iguales. Esto ocasiona que el cálculo de esta fórmula deba hacerse con las frecuencias alélicas o las gaméticas basadas en las alélicas, de otra forma se puede romper el equilibrio de la población y el sesgo que esto conlleva en cálculos de otras pruebas como los estadísticos F de Wright, la GST de Nei o modelos bayesianos que se basan en los desequilibrios que presentan las poblaciones. Por eso este ensayo desarrolla los modelos de un locus con dos alelos en genotipos autotetraploides y autooctoploides para poder realizar una generalización de la ley del equilibrio en poblaciones autopoliploides.
The law of equilibrium Hardy-Weinberg is the cornerstone of the population genetics and of the quantitative genetics; however, for its calculation in autopolyploids it is necessary take in account that the allelic and gametic frequencies are different, contrary to the diploids where they are the same. This causes that the calculations must be done with the allelic frequencies or gametic based on allelic frequencies. Otherwise the equilibrium is broken in the population and the bias that this entails in the calculation of other genetical test like Wright's F statistics, the Nei's GST or Bayesian models that are based on the disequilibrium that populations show. That is why in this work they developed models of one locus with two alleles in autotetraploid and autooctoploid genotypes to make a generalization of the law of equilibrium in autopolyploid populations.
ABSTRACT
BACKROUND: Polymorphism of glycoprotein IIIa on human platelets is one of the factors in alloimmunization that causes neonatal alloimmune thrombocytopenia (NATP), and the granulocyte antigens NA1 and NA2 are often targets of granulocytes antibodies causing neonatal alloimmune neutropenia (NANP). Currently, serotyping relies on the properties of the typing sera or antibodies and technique used. Genotyping circumvents the problems associated with serotyping. METHODS: The genomic DNA of 200 unrelated pregnant women admitted to Taegu Fatima Hospital was typed for three platelet glycoprotein IIIa-specific antigens (HPA-1, HPA-4, and HPA-6w) and granulocyte antigens (NA1 and NA2). Allele specific amplification test using primer designed to study HPA-1 and HPA-4, restriction fragment length polymorphism to study HPA-6w, and sequence specific primers for NA1 and NA2 were used for genotyping. RESULTS: The genotype frequencies were HPA-1(a+b-) 100%, HPA-4 (a+b-) 97.5%, HPA-4(a+b+) 2.5%, HPA-6w(a+b-) 97%, and HPA-6w(a+b+) 3%. These frequencies are similar to Japanese but different from Caucasian. The gene frequencies of NA1 and NA2 were 0.56 and 0.44 respectively. There are no cases of alloimmune thrombocytopenia and neutropenia in newborns from the 200 studied women. CONCLUSIONS: The differences in genotype frequencies among platelet glycoprotein IIIa-specific antigens and in the gene frequencies of NA in Koreans are shown as compared with other ethnic groups. Therefore it is needed to find the proper screening target antigens and antibodies for Korean NATP and NANP patients.