Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.

Détails

ID Serval
serval:BIB_9B640472CA16
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.
Périodique
European Journal of Human Genetics
Auteur(s)
Girardet A., Lien S., Leeflang E.P., Beaufrère L., Tuffery S., Munier F., Arnheim N., Claustres M., Pellestor F.
ISSN
1018-4813
Statut éditorial
Publié
Date de publication
1999
Peer-reviewed
Oui
Volume
7
Numéro
2
Pages
239-242
Langue
anglais
Résumé
In this study, single sperm typing has been used for high-resolution recombination analysis between the retinoblastoma gene and two closely linked extragenic microsatellites (D13S284 and D13S1307). The analysis of 1198 single sperm from three donors allowed the determination of recombination fractions between RB1.20 and D13S284 and RB1.20 and D13S1307 of 0.022 and 0.033, respectively. These results show that RB1 gene and the two microsatellites are closely linked, which validates their potential use in indirect genetic diagnosis of retinoblastoma.
Mots-clé
Humans, Linkage (Genetics), Male, Microsatellite Repeats, Recombination, Genetic, Retinoblastoma Protein/genetics, Spermatozoa
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/01/2008 13:54
Dernière modification de la notice
20/08/2019 16:02
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