[Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis].
BACKGROUND
In Mexico, Hereditary Spherocytosis (HS) is the main cause of hereditary hemolytic anemia, due to mutations of one or more genes involved in the erythrocyte membrane, making it difficult to identify the primary gene.


OBJECTIVE
With the purpose of estimating the use of the polymorphisms G199A and NcoI of ANK1 gene, and Memphis I of SLC4A1 gene, as genetic markers to screen this disease, we searched the allelic and genotypic frequencies in 45 DNA samples of HS patients and 28 from healthy individuals.


RESULTS
Allelic and genotypic frequencies were similar in both studied groups for the G199A and Memphis I polymorphisms, with low frequency of heterozygosis showing its limited use as a genetic marker. The allelic and genotypic frequencies of the NcoI polymorphism were also similar in both groups, however a higher heterozygote frequency was observed (0.49 and 0.43 in patients and healthy individuals), a feature that may turn it into a useful genetic marker.


CONCLUSIONS
Since there are other genes implicated in the molecular pathology of the HS, we consider it necessary to continue analyzing other polymorphisms of the genes involved in Hereditary Spherocytosis among the Mexican population.
Camacho-Torres
Ana Luisa
AL
División de Genética Humana, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., México.
Sánchez-López
Josefina Yoaly
JY
Mesa-Cornejo
Viviana Matilde
VM
Ibarra
Bertha
B
Perea-Díaz
Francisco Javier
FJ
D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics* / Q000378:metabolism; D017487:Ankyrins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000032:analysis; D004912:Erythrocytes / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D008800:Mexico; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013103:Spherocytosis, Hereditary / Q000235:genetics* / Q000378:metabolism
C110202:ANK1 protein, human; D001457:Anion Exchange Protein 1, Erythrocyte; D017487:Ankyrins; C454201:SLC4A1 protein, human; D004247:DNA