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HAEMOPHILIA [2 records]

Record 1 2007-10-15

English

Subject field(s)
  • Genetics
  • Reproduction (Medicine)
DEF

The determination of the sex of an embryo, typically by means of PCR [polymerase chain reaction] involving amplification from a small sample of embryonic tissue, using primers specific for a locus on the Y chromosome.

CONT

FISH [fluorescent in situ hybridisation] is used for the analysis of chromosomes and is the preferred method of embryo sexing for patients at risk of transmitting X-linked diseases.

CONT

It is now possible to detect some genetic diseases in very early embryos by a procedure known as preimplantation genetic diagnosis(PGD). [...] PGD has primarily been used to determine the sex of embryos for couples who carry a sex linked disease, such as haemophilia or muscular dystrophy,(which affect only boys). Embryo sexing is achieved by subjecting the biopsied cells to fluorescent in situ hybridisation(FISH) where the X-and Y-chromosomes in the cells are labelled red and green.

French

Domaine(s)
  • Génétique
  • Reproduction (Médecine)
CONT

Sexage d'embryon. Détermination du sexe d'un embryon avant la naissance. Généralement accomplie par la réaction de polymérisation en chaîne de l'ADN extrait d'un échantillon de tissu embryonnaire. Elle dépend de la disponibilité de marqueurs fiables pour différencier les chromosomes sexuels.

CONT

La réalisation du caryotype foetal doit être proposée en cas de diagnostic prénatal de maladie génique récessive liée au sexe comme la myopathie de Duchenne ou l'hémophilie, la détermination du sexe de l'embryon est nécessaire pour évaluer un premier risque ; seul les garçons sont atteints (un sur deux).

Key term(s)
  • détermination du sexe des embryons

Spanish

Campo(s) temático(s)
  • Genética
  • Reproducción (Medicina)
DEF

Localización de algunos factores que determinan el sexo biológico [del embrión], por ejemplo, los cromosomas sexuales presentes en las células del individuo.

CONT

Sexaje de embriones. Determinación del sexo del embrión antes del nacimiento. Generalmente se realiza aplicando la reacción en cadena de la polimerasa para amplificar el ADN extraído de una muestra del tejido embrionario. Depende de la disponibilidad de marcadores fiables para el cromosoma sexual diferencial.

Save record 1

Record 2 2004-12-03

English

Subject field(s)
  • Blood
DEF

A hereditary hemorrhagic diathesis characterized by haemarthrosis and deep tissue bleeding, due to deficient generation of intrinsic thromboplastin.

Key term(s)
  • haemophilia

French

Domaine(s)
  • Sang
DEF

Maladie génétique et héréditaire de la coagulation caractérisée par une propension aux hémorragies.

Spanish

Campo(s) temático(s)
  • Sangre
DEF

Padecimiento hereditario caracterizado por una coagulación inadecuada, por ausencia de los factores VIII ó IX en la sangre.

Save record 2

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