-transparent.png){kind=logo}
The gene responsible for Krabbe disease, an autosomal recessive disorder caused by deficiency of galactocerebrosidase (GALC), was localized by multipoint linkage analysis on chromosome 14. Eight mapped dinucleotide repeat polymorphisms were tested for linkage to GALC. Two-point linkage analysis demonstrated close linkage of GALC and D14S48, with Z = 13.69 at theta = 0. Multipoint analysis yielded strong support for this finding, with maximum likelihood for GALC located within 1 cM of D14S48. This analysis also identified markers that clearly flank the GALC locus, as the map order of D14S53-GALC-D14S45 is favored by odds greater than 10(6):1. Additional support for close linkage of GALC and D14S48 comes from the apparent linkage disequilibrium between these two loci in a consanguineous Druze community in Israel. These data localize GALC to 14q24.3-q32.1.
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
October 2008,
Human genetics,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
July 1990,
American journal of human genetics,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
July 2020,
Gene,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
December 2010,
Human mutation,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
November 1995,
Nature genetics,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
October 2021,
Translational pediatrics,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
May 2013,
Gene,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
January 1986,
Genetic epidemiology,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
January 1997,
Genetic testing,
R Oehlmann, and
J Zlotogora, and
D A Wenger, and
R G Knowlton
June 2012,
Orphanet journal of rare diseases,
