Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.

Abstract:

:Linkage of the gene responsible for an X-linked early onset parkinsonism disorder with mental retardation (McKusick 311510) to DNA probes that detect restriction fragment length polymorphisms is described. The disease gene is linked to the F8C gene, and to DNA probes detecting polymorphic loci DXS52, DXS15, DXS134, and DXS374 with maximum lod scores at theta = 0 of 5.08, 5.19, 5.00, 5.03, and 4.46, respectively. Multipoint linkage analysis gives a maximum multipoint lod score of 6.75 at the F8C gene. This places the disease gene in chromosomal region Xq27.3-qter.

journal_name

Genomics

journal_title

Genomics

authors

Gregg RG,Metzenberg AB,Hogan K,Sekhon G,Laxova R

doi

10.1016/0888-7543(91)90363-j

subject

Has Abstract

pub_date

1991-04-01 00:00:00

pages

701-6

issue

4

eissn

0888-7543

issn

1089-8646

journal_volume

9

pub_type

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