Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.

Abstract:

:A search for the defective gene causing torsion dystonia has been carried out in a family manifesting an autosomal dominant mode of inheritance of this movement disorder. Complete neurologic examination and establishment of lymphoblast lines have been carried out for over 50 members. Linkage analysis, using cloned DNA sequences and restriction fragment length polymorphisms, was evaluated by the LOD score method with requisite assumptions for mode of inheritance, age-of-onset and incomplete gene penetrance. Genes for pro-opiomelanocortin and glutamic acid decarboxylase, which have been implicated in the etiology of the disease in rat models, were excluded as being responsible for the disease state in this family. Other regions of the genome were also excluded using DNA probes for other genes and random "unique" sequences.

journal_name

J Neurogenet

journal_title

Journal of neurogenetics

authors

Breakefield XO,Bressman SB,Kramer PL,Ozelius L,Moskowitz C,Tanzi R,Brin MF,Hobbs W,Kaufman D,Tobin A

doi

10.3109/01677068609106846

subject

Has Abstract,Author List Incomplete

pub_date

1986-05-01 00:00:00

pages

159-75

issue

3

eissn

0167-7063

issn

1563-5260

journal_volume

3

pub_type

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