A PREVIOUSLY UNKNOWN POLYMORPHISM LOCATED WITHIN THE RB1 LOCUS ONLY PRESENT IN ASIAN INDIVIDUALS

Authors
SCHUBERT EL HANSEN MF
Citation
El. Schubert et Mf. Hansen, A PREVIOUSLY UNKNOWN POLYMORPHISM LOCATED WITHIN THE RB1 LOCUS ONLY PRESENT IN ASIAN INDIVIDUALS, Human heredity, 46(2), 1996, pp. 118-120
Citations number
4
Categorie Soggetti
Genetics & Heredity
Journal title
Human heredity → ACNP
ISSN journal
00015652
Volume
46
Issue
2
Year of publication
1996
Pages
118 - 120
Database
ISI
SICI code
0001-5652(1996)46:2<118:APUPLW>2.0.ZU;2-0
Abstract
Although the retinoblastoma susceptibility locus (RB1) spans some 180 kb in the human and has been fully sequenced, few polymorphisms within the locus have been identified and none have been shown to vary in al lelic frequency in different populations. We have identified a previou sly unknown polymorphism within intron 18 of the retinoblastoma suscep tibility gene that is present in Asians but not in the other ethnic gr oups examined. This polymorphism eliminates a Tsp5091 restriction enzy me site, making it easily detectable for use in linkage analysis and g enetic population studies.