Abstract

YAIXA, Piloto-Roque et al. Factor VIII gene haplotype in the haemophilia a molecular dagnosis: A family study. Rev haban cienc méd [online]. 2010, vol.9, n.1, pp. 0-0. ISSN 1729-519X.

Hemophilia A is a coagulation disorder congenital disease which consist in a recessive disorder linked to X chromosome. HA is cause by heterogeneous mutations in factor VIII gen, that´s why, the study was carry out by indirect studies. We studied one family afected; we were determinated of carrier status of pregnancy woman and later we relizated of prenatal diagnosis. The DNA extraction from the three blood samples and one amniotic fluid was obtained by the saline precipitation procedure (Salting Out). We studied the polymorphisms St14, Hind III and Bcl1. The determination of fetal sex was studied of AMXY gen. The technique used was Polymerase Chain Reaction. The Bcl I marker analysis showed that the mother was a carrier of haemophilia A but being homozygous was not informative, ST14 polymorphism alone did not provide information on the condition of the mother but to be heterozygous for it and knowing beforehand information of being a carrier prenatal diagnosis was possible thanks to joint analysis of the markers. Hind III polymorphism was not informative. The male fetus was found to be healthy.

Keywords : Haemophilia A; Bcl I; St14; Hind III; factor VIII..

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