Camacho-Torres AL, Sánchez-López JY, Mesa-Cornejo VM, Ibarra B, Perea-Díaz FJ

Language: Spanish
References: 8
Page: 435-437
PDF size: 127.45 Kb.

ABSTRACT

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,

REFERENCES

1. Sánchez-López JY, Camacho AL, Magaña MT, Ibarra B, Perea FJ. Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis. Blood Cells Mol Dis 2003;31:357-359.

2. Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ; Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol 2004;126:455-474.

3. Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 1996;13:214-218.

4. Gallagher PG, Tse WT, Forget BG. Polymerase chain reaction analysis of an NcoI polymorphism of the human erythrocyte ankyrin gene. Blood 1992;80:1856-1857.

5. Jarolim P, Rubin HL, Zhai S, Sahr KE, Liu SC, Mueller TJ, Palek J. Band

6. 3 Memphis: a widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG→GAG (Lys→Glu) in codon 56. Blood 1992;80:1592-1598.

7. Ranney HM, Rosenberg GH, Morrison M, Mueller TJ. Frequencies of Band 3 variants of human red cell membranes in some different populations. Br J Haematol 1990;75:262-267.

8. Online Mendelian Inheritance in Man, OMIMTM. Johns Hopkins University, Baltimore, MD. MIM Number: 109270: Date last edited 01/04/2006. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/