title: Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.
abstract: 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.
authors: Laboratoire de Biochimie Génétique, CHU de Montpellier, France. girardet@igh.cnrs.fr
authors: A
authors: A
authors: Girardet
authors: S
authors: S
authors: Lien
authors: E P
authors: EP
authors: Leeflang
authors: L
authors: L
authors: Beaufrère
authors: S
authors: S
authors: Tuffery
authors: F
authors: F
authors: Munier
authors: N
authors: N
authors: Arnheim
authors: M
authors: M
authors: Claustres
authors: F
authors: F
authors: Pellestor
mesh_terms: D008040:Genetic Linkage; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D011995:Recombination, Genetic; D016160:Retinoblastoma Protein / Q000235:genetics*; D013094:Spermatozoa
chemical_list: D016160:Retinoblastoma Protein