Refined Assignment of the Infantile Neuronal Ceroid Lipofuscinosis
(INCL, CLN1) Locus at 1p32: Incorporation of Linkage Disequilibrium
in Multipoint Analysis
E. Hellsten, J. Vesa, M.C. Speer, T.P. Makela, I. Jarvela,
K. Alit, J. Ott, L. Peltonen
Genomics , 16(3), 720--725 (1993 Jun)
Abstract
Infantile neuronal ceroid lipofuscinosis, INCL, CLN1, is an
autosomally inherited progressive neurogenerative disorder. The
disease results in the massive death of cortical neurons, suggesting
an essential role for the CLN1 gene product in the normal neuronal
maturation during the first years of life. Identification of new
multiallelic markers has now made possible the construction of a
refined genetic map encompassing the CLN1 locus at 1p32. Strong
allelic association was detected with a new, highly polymorphic
HY-TM1 marker. We incorporated this observed linkage disequilibrium
into multipoint linkage analysis, which significantly increased the
informativeness of the limited family material and facilitated
refined assignment of the CLN1 locus.
