2008, Number 2
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Gac Med Mex 2008; 144 (2)
Evaluación del patrón de inactivación del cromosoma X en portadoras sintomáticas y mujeres con hemofilia
Mundo-Ayala JN, Jaloma-Cruz AR
Language: Spanish
References: 10
Page: 171-174
PDF size: 147.95 Kb.
ABSTRACT
X chromosome inactivation is a stochastic event that occurs early in female embryo development to achieve dosage compensation with males. Certain genetic mechanisms affect the normal process causing a skewed X inactivation pattern which has clinical relevance in female carriers of X-linked recessive disorders, like haemophilia. The most commonly used assay to evaluate the X inactivation pattern is the PCR amplification of the human androgen receptor gene (HUMARA). The use of this technique in bleeding carriers and women with haemophilia allows identifying if their hemorrhagic symptoms are due to an unfavourable lyonization. Furthermore, these studies are important for understanding the X chromosome inactivation process in humans.
REFERENCES
McKusick VA. Mendelian inheritance in man. Catalog of autosomal dominant, autosomal recessive and X-linked phenotypes. 11th edition. Baltimore, EUA: Johns Hopkins University Press; 2001.
Favier R, Lavergne JM, Costa JM, Caron C, Mazurier C, Viémont M, et al. Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 2000;96:4373-4375.
Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz Ch, Longshore J, et al. X chromosome inactivation patterns of 1005 phenotypically unaffected females. Am J Hum Genet 2006;79:493-499.
Ng Karen, Pullirsch D, Leeb M, Wutz A. Xist and the order of silencing. EMBO Rep 2007;8:34-39.
Bicocchi M, Migeon B, Pasino M, Lanza T, Bottini F, Boeri E, et al. Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. Eur J Hum Genet 2005;13:635-640.
Belmont JW. Genetic control of X inactivation and processes leading to Xinactivation skewing. Am J Hum Genet 1996;58:1101-1108.
Casey G. Rodgers S, Hall J, Lloyd J, Rudzki Z. Phenotypic expression of hemophilia A in female carriers. Haemophilia 2004:10(Suppl 3):2.
Orstavik KH, Scheibel E, Ingerslev J, Schwartz M. Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B. Thromb Haemost 2000;83:433-437.
Gale RE, Mein CA, Linch DC. Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay. Leukemia 1996;10:362-367.
Allen C, Zoghbi H, Moseley A, Rosenblatt H, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgenreceptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-1239.