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| DYSTONIA-PARKINSONISM SYNDROME (XDP) LOCUS - FLANKING MARKERS IN XQ12-Q21.1 |
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| Author(s): KUPKE KG, GRAEBER MB, MULLER U |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 50 Issue: 4 Pages: 808-815 Published: APR 1992 |
| Times Cited: 31 References: 52 |
| Abstract: The study of rare genetic forms of dystonia and parkinsonism permits positional cloning of genes potentially involved in more common, multifactorial forms of these disease. One movement disorder amenable to molecular genetic analysis is the X-linked dystonia-parkinsonism syndrome (XDP). This disease is endemic to the Philippines where it originated by a genetic founder effect. Linkage analysis was performed with DNA from 14 XDP kindreds by using 12 polymorphic DNA sequences in Xp11-Xq22. Two-point analysis demonstrated maximum lod scores of 5.45, 4.95, 4.28, and 5.99 for DXS106, DXS159, PGK1, and DXS72, respectively, at recombination fractions of zero (DXS106 and DXS159), .01 (PGK1), and .04 (DXS72). Multipoint analysis resulted in a maximum-likelihood score (Z(max)) of 8.41 with a (Z(max) - 1) support interval of 9 cM between DXS159 and DXS72 (Xq12-q21.1). In 19 XDP kindreds significant linkage disequilibrium was found for loci DXS72 (DELTA = .47), PGK1 (DELTA = .36), DXS95 (DELTA = .30), DXS106 (DELTA = .28), and DXS159 (DELTA = .26). These data indicate that the gene mutated in XDP (locus DYT3) is located in Xq12-q21.1. |
| Document Type: Article |
| Language: English |
Addresses:
1. CHILDRENS HOSP MED CTR, DIV GENET, 300 LONGWOOD AVE, BOSTON, MA 02115 USA
2. CHILDRENS HOSP MED CTR, DIV NEWBORN MED, BOSTON, MA 02115 USA
3. HARVARD UNIV, SCH MED, DEPT PEDIAT, BOSTON, MA 02115 USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: HL848 |
| ISSN: 0002-9297 |
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