Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

H Eiberg; R M Gardiner; J Mohr

doi:10.1111/j.1399-0004.1989.tb03193.x

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

Clin Genet. 1989 Oct;36(4):217-8. doi: 10.1111/j.1399-0004.1989.tb03193.x.

Authors

H Eiberg¹, R M Gardiner, J Mohr

Affiliation

¹ University Institute of Medical Genetics, Panum, Copenhagen, Denmark.

PMID: 2805379
DOI: 10.1111/j.1399-0004.1989.tb03193.x

Abstract

In a material of 26 Caucasian families, 23 with at least 2 children affected with Batten disease, we found a lod score of 3.00 at theta = 0.00 in males and theta = 0.26 in females with haptoglobin (HP), and assign the locus for Batten disease to 16q22.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 16*
Female
Genetic Linkage*
Haptoglobins / genetics*
Humans
Lod Score*
Male
Neuronal Ceroid-Lipofuscinoses / genetics*

Substances

Haptoglobins