Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1

Autor: M A, Spence, R S, Sparkes, J R, Heckenlively, J T, Pearlman, D, Zedalis, M, Sparkes, M, Crist, S, Tideman
Rok vydání: 1977
Předmět:
Zdroj: American journal of human genetics. 29(4)
ISSN: 0002-9297
Popis: A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since the AMY2 locus has been placed on the short arm of 1. Lod scores are reported for four other loci on chromosome 1; none of these achieve statistical significance. Analyses are reported for 23 additional autosomal markers and close linkage with RP can be excluded for a number of these.
Databáze: OpenAIRE